NY Times [italicized extract below] — On the findings that Sarah Tishkoff and her team found, as have others too, showing that the C−13.9kbT allele which is determined to be a predictor of lactose tolerance in Europe, has not been effective in predicting lactose tolerance in Africa, even though this is a continent where lactose tolerance amongst various groups, particularly those that practice pastoralism, has been well documented. The reason for this phenomenon is 'convergent evolution', wherein several distinct alleles different from the European examples appear to be promoters of lactose tolerance...
Geneticists wondered if the lactose tolerance mutation **in Europeans**, identified in 2002, had arisen among pastoral peoples elsewhere.
But it seemed to be largely absent from Africa, even though pastoral peoples there generally have some degree of tolerance...
After testing for lactose tolerance and genetic makeup among 43 ethnic groups in East Africa, she and her colleagues have found three **new** mutations **all independent of one another** and **of the European mutation**, that keep the lactase gene permanently switched on.
Meanwhile, what needs to be understood when considering lactose tolerance situations in Africa, courtesy Mulcare et al. 2004…
—1) Lactase persistence varies widely in frequency among different human populations, both between and within continents.
Examples of within continents variations...
*E.g. 1 - in Europe itself variation is apparent - Almost all Dutch people and 99 percent of Swedes are lactose tolerant, but the mutation becomes **progressively** less common in Europeans who live at increasing distances from the ancient Funnel Beaker region - NY Times, an article on Sarah Tishkoff's 2004 findings on lactase phenotypes in African samples.
*E.g. 2 - Southern Europeans generally showed lower lactose tolerance phenotypes than regions to their north.
*E.g 3 - After testing for lactose tolerance and genetic makeup among 43 ethnic groups in East Africa, she and her colleagues have found three **new** mutations **all independent of one another
Example of between continents variation:
*E.g. - After testing for lactose tolerance and genetic makeup among 43 ethnic groups in East Africa, she and her colleagues have found three **new** mutations **all independent of one another** and **of the European mutation**, that keep the lactase gene permanently switched on.
—2) To date [as of 2003], there have been no reports of allele frequencies for the C−13.9kbT polymorphism in populations living in Africa.
[as of 2004] The frequency of −13.9kb*T type was low or zero in most of the African groups tested. In relation to this, we have the following examples:
*E.g. 1 - In the African populations, the −13.9kb*T allele was only found in a few individuals; all but one of these individuals were from Cameroon, [and these were in the main, ancestral or paraphyletic R1*-M173 carriers]
*E.g. 2 - It is noteworthy that −13.9kb*T was not found in East Africa at all, even though the data sets included many known pastoralists and groups with a high frequency of lactase persistence.
—3) Previous studies of African populations showed variation in the frequency of lactase persistence among population groups, as well as a complex pattern of distribution (reviewed in Flatz 1987; Holden and Mace 1997; Swallow and Hollox 2000).
African populations display multiple lifestyles, with milk-drinking and non–milk-drinking groups often living in close proximity, and have complex demographic histories. Some examples below:
* E.g. 1 - Pastoralists, such as the Fulbe in Nigeria, typically have higher frequencies of lactase persistence than nonpastoralists in the same country—for example, the Yoruba and Igbo
* E.g. 2 - The lactase-persistence phenotype is usually observed at low frequencies in Bantu- and Khoisan-speaking groups (<20%); Comparisons of the predicted frequencies of lactase persistence, deduced from the frequency of −13.9kb*TT and −13.9kb*CT genotypes, with the reported frequencies obtained from lactose-tolerance testing, showed these were significantly different in all of the African populations except the Fulbe and the Hausa.
—4) Why it is misleading to use reports for African American candidates as representative of lactose tolerance phenotypes amongst Africans:
*Although the −13.9kb*T allele frequency in Americans with African ancestry is consistent with their lactase-persistence frequency (Enattah et al. 2002), there is known to be substantial admixture between African Americans and European Americans (Parra et al. 1998)
So, African American examples of the C-13.9kbT alleles could represent introgression from European Americans, since as already noted above, at the time of Mulcare et al.’s study, “To date, there have been no reports of allele frequencies for the C−13.9kbT polymorphism in populations living in Africa” and Mulcare et al. themselves found that “the frequency of −13.9kb*T is too low to explain the observed frequency of lactase persistence.”
*In relation to point 3 at the top - Though African American gene pool are largely reflective of those of their ancestral African populations, it doesn’t represent the overall gene pool of Africa, and it may well have been subjected to some micro-evolutionary processes, however low, since the time of separation from source African populations, including — as noted above — bidirectional genetic introgression with populations that are otherwise rarely geographically proximate to African populations.
*African American lifestyles may not necessarily parallel those of their respective ancestral populations and other African populations.
And as already noted, but not the least…
—5) While the C−13.9kb*T allele has been proclaimed to be a predictor of lactose tolerance in Europeans [see Enattah and colleagues (2002)], Mulcare et al.’s results show that the −13.9kb*T allele cannot be causal of lactase persistence in most Africans [although it could possibly explain lactase persistence in some Cameroonians].
Other reading:
More on R1*-M173 bearers
Timeline indexing, as well as covering topics around mtDNA and Y-DNA segments, microsatellite sequences and other DNA loci, not sparing Linguistics.
Pages
▼
Tuesday, September 30, 2008
Monday, September 29, 2008
More on R1*-M173 bearers
Earlier here, the issue of R1*-M173 ancestry was examined by way of distribution patterns, and other areas of the genome outside of the Y chromosome, like in say an allele on the X chromosome [See R1*-M173 bearing chromosomes in Cameroon (clickable) - for review]. Well, now we will look at another correlation made between Y haplotype and lactose tolerance [which will be revisited here in the future] promoting alleles; to this end, we examine Mulcare et al.'s 2004 study, The T Allele of a Single-Nucleotide Polymorphism 13.9 kb Upstream of the Lactase Gene (LCT) (C−13.9kbT) Does Not Predict or Cause the Lactase-Persistence Phenotype in Africans:
The authors write...
We typed this polymorphism in 1,671 individuals from 20 distinct cultural groups in seven African countries. It was possible to match seven of the groups tested with groups from the literature for whom phenotypic information is available. In five of these groups, the published frequencies of lactase persistence are 25%. We found the T allele to be so rare that it cannot explain the frequency of the lactase-persistence phenotype throughout Africa.
They go onto say...
By use of a statistical procedure to take phenotyping and sampling errors into account, the T-allele frequency was shown to be significantly different from that predicted in five of the African groups. Only the Fulbe and Hausa from Cameroon possessed the T allele at a level consistent with phenotypic observations (as well as an Irish sample used for comparison). We conclude that the C−13.9kbT polymorphism is not a predictor of lactase persistence in sub-Saharan Africans.
This is the point of examination, wherein the authors find that C−13.9kbT polymorphism cannot be a predictor of lactose tolerance in sub-Saharan Africans, though the few exceptions wherein it seems to be predictor, appears to be amongst Fulbe and Housa groups of Cameroon; rather, alleles different from European [ where the −13.9kb*T marker appears to be the main predictor of lactose tolerance] variants seem to play the role of promoting lactase persistence. In any case, the seemingly anomalous presence of C−13.9kbT allele in Cameroonian groups, and given that they say that the European C−13.9kbT alleles seem to be common on the A haplotype of the LCT region [other haplotypes are B, C and U]—in particular, the extended A haplotype which seems to be most common in northern Europeans —while it isn't as common on many other A haplotype chromosomes, not to mention the "high expression of mRNA bearing the LCT transcription unit" encoded by LCT genes on non-A haplotype chromosomes also bearing single nucleotide polymorphism characterizing a C—>T transition at −13.9kb — thereby "suggesting that there may be heterogeneity of the cause of lactase persistence in Europe (Poulter et al.)", may have likely compelled the authors to make this reckoning:
It seems probable that the C-to-T transition at −13.9 kb occurred in a non–sub-Saharan African population that contributed to the current population of Europe. If this were the case, then its presence in Cameroon, and especially in people of Fulbe cultural identity or with Fulfulde-speaking ancestry, could be explained by introgression from outside sub-Saharan Africa.
Hence, the authors look to Y DNA for any possible clues to the possible "non-sub-Saharan African" source, wherein they typed in nucleotide sequences corresponding to haplogroup R. This is what they found in doing so:
The 92R7-derived haplogroup was extremely rare in the sub-Saharan African populations sampled. Most 92R7-derived chromosomes were found in Cameroon, with 8/42 in the Fulbe, 1/110 in Mambila, 1/65 Kwanja, and 5/113 “others.” Outside Cameroon, we found five 92R7-derived chromosomes in northern Sudan (3/11 Shaigi, 2/29 Ga’ali) and one in southern Sudan (1/72 “others”). The microsatellite haplotype diversity of 92R7-derived chromosomes in Cameroon was high, with 10 haplotypes observed among 15 individuals (h = 0.933, SE = 0.0449, average repeat size variance = 0.224).
And they point out that their finding is consistent with R1*-M173 chromosomes findings by Cruciani et al. in their 2002 study:
Our Y-chromosome data corroborate the results of Cruciani and colleagues (2002) in finding high frequencies in our Cameroonian samples of a haplogroup that is generally absent from sub-Saharan Africa. Phylogeographic arguments suggest that this haplogroup (R1*, by use of the nomenclature of the Y-Chromosome Consortium [2002]) has a non-African origin. Cruciani and colleagues (2002) found R1* Y chromosomes at an average frequency of 40% in several northern Cameroonian groups, including one Fulbe group.
With this in mind, they go onto point out that:
We found evidence for the same haplotype (typed by use of a marker that appears phylogenetically identical in this part of Africa) in our samples from central Cameroon, with a particularly high frequency (19%) in the Fulbe group that was tested.
It doesn't take much imagination to notice that the authors seemed rather eager to examine the Y DNA marker from only one of two possibilities—that is "non–sub-Saharan African population's contribution" [the alternative of course, being "African"], a role which they apparently assumed would be desirably played by the R1*-M173 chromosomes, but what the authors appear to brush aside, as noted before, is the virtual rarity of these undifferentiated R1* chromosomes outside of Africa, with the only other region with noticeable frequencies being in the Dead Sea region of Jordan; fairly low frequencies were found in an Omani sample, which is not surprising, considering that their Nile Valley neighbor [Egypt] have these undifferentiated R1*-M173 chromosomes. As a previous posting [link posted above] on this issue examined, R1*-M173 in the Dead Sea could very well likely represent African ancestry, given the geographical clines observed in its distribution therein, along with other markers indicative of African ancestry. On the other hand, the authors are apparently aware that Europe is not the source of these chromosomes, which prompts them to reckon in this manner: It seems probable that the C-to-T transition at −13.9 kb occurred in a non–sub-Saharan African population that contributed to the current population of Europe.
*Being aware of the prospect that Europe could well not be the source of the Y DNA, the authors applied the wording "non–sub-Saharan" source, rather than otherwise just assume that it was a "European source".
For a moment there, it would appear that the authors saw a correlation between R1*-M173 bearers and the prevalence of the −13.9kb*T allele. However, they run into this:
However, haplogroup R1* is also found at high frequencies in several non-Fulbe groups in the Extreme North Province of Cameroon, where the −13.9kb*T allele is found at low frequencies
And they write:
Thus, the demographic processes leading to the presence of the −13.9kb*T allele in Cameroon may not be the same as those leading to the Y-chromosome introgression but could instead relate more specifically to Fulbe migration history
The authors are right when they reckon that demographic processes, which were likely responsible for the relative prevalence of the lactose promoting allele in one segment of African R1*-M173 bearers and its absence or rarity in another segment, were distinct. However, this finding compelled the authors to re-examine the pattern of the highest prevalence of the −13.9kb*T allele in the Fulbe samples vs. its low prevalence in other high-frequency bearing R1*-M173 Cameroonians, and reconsider the role of Y DNA in explaining the presence of the C-T 13.9kb allele in the said few African groups in which it was identified.
Because of this preconceived eagerness to only explore a possible non-African ultimate source of R1*-M173 chromosomes, which as their own wording makes clear—is still tenuous and debatable, they overlooked the possibility that the mutation had originally occurred in R1*-M173 bearing Africans who were probably a highly mobile bunch, as one with think in terms of nomads, before finally settling in certain locales. Given this, the relatively low prevalence of the −13.9kb*T allele in other groups—which share high frequencies of R1*-M173 with the authors' Fulani sample—versus that of said Fulani sample, could well be explained by the possibility that the African R1*-M173 bearers with none to low −13.9kb*T are remnants of the ancestral R1*-M173 population, wherein the mutation associated with the −13.9kb*T allele had not yet occurred! Hence, if only a segment of this population—wherein the new mutation occurred and started off at low frequencies—were to migrate elsewhere and then expand, the chance of the −13.9kb*T allele (or precursor allele) bearing members rising within the population thereof, would be greater. Alternatively, if the non-Fulbe Hg R-bearing bunch in the extreme North Province of Cameroon had subsequently lost the allele type upon situating themselves due to lack of lactose-rich diet, along with gene flow from groups with weak lactose-tolerance, and assuming that said locus was/is under some other form of natural selection in the latter or other genetic contributors as well, then it is conceivable that through the act of genetic drift that allele numbers went considerably down. This latter scenario would have to be envisioned in a time frame postdating the earliest signs of cattle domestication. Remember, these are considerations only if one were examining an unequivocal or a strong correlation between the presence of Hg R bearing Y-chromosomes and the C-T 13.9kb allele.
It seems that the explanation the authors thought was most plausible to them, was to build a storyline around Fulani/Fulbe migration, as the agent for spreading the relatively limited frequencies −13.9kb*T alleles that they were able to come across in their overall African sample:
Thus, the demographic processes leading to the presence of the −13.9kb*T allele in Cameroon may not be the same as those leading to the Y-chromosome introgression but could instead relate more specifically to Fulbe migration history. Further studies on the distribution of the −13.9kb*T allele and of other genetic markers in this part of Africa are required to resolve this question.
Apparently, the authors are well aware of the fairly tenuous nature of their hypothesis, hence thereby acknowledging the need for further DNA studies to "resolve this issue". The fact that they aren't too confident about specific Fulani geographic-origins either, plays no small role in giving their theory its tenuous character...
The origins of the Fulbe are the subject of debate, but the group is thought to be from outside Cameroon; on the basis of ethnic traditions and linguistic similarities between Fulbe languages and Tukulor (Toucouleur), an origin in the Futa Toro region of the Senegal river basin has been proposed (Newman 1995).
Why Fulani origins would be a subject of debate, is beyond the present author of this blog. Both their oral traditions and primary gene pool is consistent with west African origin, as any other west African group.
There are two possible ways of looking at the origin of the situation, if one is to correlate it to the shared R1*-M173 Y DNA marker between the two African camps: a) “Convergent evolution” amongst geographically distant R1 bearing populations which had adopted a pastoral lifestyle and became lactose digesters, or b) a UEP in one geographical locale, which would imply genetic introgression ultimately from the source population to a recipient population, in which case, any correlation to the shared Y DNA R1*-M173 marker between the two tested camps, could well weaken; and if this mutation didn’t necessarily occur in some R1* bearing population, then the question arises: could it be better correlated to another marker(s)?!
And now, delving into an area with some degree of speculation...
This lactose tolerance promoting allele would not have been prominent in the original R1*-M173 bearers in their early geographical spheres of influence, even in the "Near East", through which they would have had to ultimately enter Europe. The beginning of their [R1*-M173 bearers] most outstanding expansions likely came along in or around Asian Minor, wherein those that then headed to the west would expand to give rise to R1b bearers, and those that proceeded to eastern Europe-central Asia, would eventually—at a latter time than the expansion in western Europe—give rise to R1a bearers. By this time, the −13.9kb*T allele would still not have gained any prominence, presuming that it is strongly linked to lactose tolerance promotion, as no cattle domestication had yet occurred. However, not only after cattle domestication and dairy farming, but also as a result of the persistence thereof in applying milk as a significant source of nutrition, the mutation in western Europe underwent a selective sweep that would make the type very frequent in north Europe, particularly around the Funnel Beaker region. If one were to assume that the C−13.9kbT allele occurred in R1 bearing populations, and that Europe could not have been the source of the allele in the few Africans wherein the above mentioned authors had found it, then it [the C−T 13.9kb allele] would have to have been the product of convergent evolution in geographically distant pastoral populations which descend from the same MRCA. However, if one were to absolutely rule out convergent evolution, and given that ancestral R1*-M173 chromosomes in Africa are virtually absent in Europe, then one would have to come to the conclusion that the above author's had come to—in that, the emergence of −13.9kb*T allele doesn't correlate with R1* ancestry:
Thus, the demographic processes leading to the presence of the −13.9kb*T allele in Cameroon may not be the same as those leading to the Y-chromosome introgression but could instead relate more specifically to Fulbe migration history. Further studies on the distribution of the −13.9kb*T allele and of other genetic markers in this part of Africa are required to resolve this question.
If there was only one source of the distribution of the −13.9kb*T allele found in the African samples as a product of UEP, and this happened to be of north European origin, then some other ancestry, aside from R1*-M173 of the said African groups has to be accounted for, to explain the occurrence in said African populations; if so, could this be learned from mtDNA? It certainly won't hurt to examine the prospect, given the said conditional premise. In any examination to learn whether or not the C−T 13.9kb allele—as the precise examples found in the few African samples, and in any correlation with R1*ancestry—could have been a product of convergent evolution, it would also serve to test the few R1*-M173 bearers of the Dead Sea region, and other haplogroup R1 (xR1b) bearing lactose digesters for that matter [it wouldn't be unreasonable to include even R1 (xR1b) bearing groups which are not known to have lactose-rich diet in the screening process, which one would assume, should have already been done to some degree or another at this point], to see if said −13.9kb*T allele is prevalent. What is clear from all this, is that the C−13.9kbT sequence is low to rare in the African landscape, and hence, all these guessing games on the provenance of the source of the few C−13.9kbT polymorphisms that have been found in African samples. Furthermore, the tenuous character of this whole affair about −13.9kb*T transition model being an unequivocal causal agent and/or one presumably of UEP or yet, a monophyletic lineage, is related by observations like these:
— contrasting observations, and deviations from expected results...
In a series of 48 London patients of various ancestry, from whom intestinal biopsies were obtained, the correlations of lactase activity and sucrase/lactase ratio with −13.9kb*CT and −13.9kb*TT genotype were not as tight as might have been expected for a cis-acting causal change. In contrast to this, in a recent Finnish study, the 13.9kb*CT heterozygotes did have activity intermediate between the 13.9kb*CC and 13.9kb*TT homozygotes (Kuokkanen et al. 2003).
— and to repeat: divergent monophyletic LCT-gene markers...
In a few rare individuals, high expression of the mRNA transcript, encoded by the LCT allele of a non-A haplotype chromosome, has been observed (Poulter et al. 2003). In particular, a single individual in a United Kingdom cohort was interpreted as being heterozygous for the A and B haplotypes, as well as for C−13.9kbT, and showed high expression of lactase from both transcripts, suggesting that there may be heterogeneity of the cause of lactase persistence in Europe (Poulter et al. 2003).
— multiple LP allele loci indicators...
A comparison of the occurrence of this allele, as well as alleles at other recently described loci that subdivide the A haplotype (such as G−22kbA, [Enattah et al. 2002]), suggests that−13.9kb*T is the most recent (Poulter et al. 2003).
...possibly summed up by...
It is possible that the C−13.9kbT transition occurred more recently than another (as yet unknown) mutation that is the true causal change both in Africa and Europe. Recent transfection studies do, however, suggest a functional role for C−13.9kbT (Olds and Sibley2003; Troelsen et al. 2003).
Yes, the T allele, as the transitions are so-called, may well have some "functional" role in the LCT gene that needs to be established, but apparently not as a predictor of lactase-persistence in Africa [including its R1* bearing groups, wherein some communities lacked the T allele, while others had it], which if we recall, is something that the authors themselves were observant about.
*Last modified on 2/27/2010.
________________________________________________________________
References*
—As already cited.
Other reading:
R1*-M173 Chromosomes in Africa
R1*-M173 Chromosomes in Africa - II
Mitochondrial DNA M1 haplogroup: A Response To Ana M. Gonzalez et al. 2007
Lactose Tolerance Phenotypes in Africa
The authors write...
We typed this polymorphism in 1,671 individuals from 20 distinct cultural groups in seven African countries. It was possible to match seven of the groups tested with groups from the literature for whom phenotypic information is available. In five of these groups, the published frequencies of lactase persistence are 25%. We found the T allele to be so rare that it cannot explain the frequency of the lactase-persistence phenotype throughout Africa.
They go onto say...
By use of a statistical procedure to take phenotyping and sampling errors into account, the T-allele frequency was shown to be significantly different from that predicted in five of the African groups. Only the Fulbe and Hausa from Cameroon possessed the T allele at a level consistent with phenotypic observations (as well as an Irish sample used for comparison). We conclude that the C−13.9kbT polymorphism is not a predictor of lactase persistence in sub-Saharan Africans.
This is the point of examination, wherein the authors find that C−13.9kbT polymorphism cannot be a predictor of lactose tolerance in sub-Saharan Africans, though the few exceptions wherein it seems to be predictor, appears to be amongst Fulbe and Housa groups of Cameroon; rather, alleles different from European [ where the −13.9kb*T marker appears to be the main predictor of lactose tolerance] variants seem to play the role of promoting lactase persistence. In any case, the seemingly anomalous presence of C−13.9kbT allele in Cameroonian groups, and given that they say that the European C−13.9kbT alleles seem to be common on the A haplotype of the LCT region [other haplotypes are B, C and U]—in particular, the extended A haplotype which seems to be most common in northern Europeans —while it isn't as common on many other A haplotype chromosomes, not to mention the "high expression of mRNA bearing the LCT transcription unit" encoded by LCT genes on non-A haplotype chromosomes also bearing single nucleotide polymorphism characterizing a C—>T transition at −13.9kb — thereby "suggesting that there may be heterogeneity of the cause of lactase persistence in Europe (Poulter et al.)", may have likely compelled the authors to make this reckoning:
It seems probable that the C-to-T transition at −13.9 kb occurred in a non–sub-Saharan African population that contributed to the current population of Europe. If this were the case, then its presence in Cameroon, and especially in people of Fulbe cultural identity or with Fulfulde-speaking ancestry, could be explained by introgression from outside sub-Saharan Africa.
Hence, the authors look to Y DNA for any possible clues to the possible "non-sub-Saharan African" source, wherein they typed in nucleotide sequences corresponding to haplogroup R. This is what they found in doing so:
The 92R7-derived haplogroup was extremely rare in the sub-Saharan African populations sampled. Most 92R7-derived chromosomes were found in Cameroon, with 8/42 in the Fulbe, 1/110 in Mambila, 1/65 Kwanja, and 5/113 “others.” Outside Cameroon, we found five 92R7-derived chromosomes in northern Sudan (3/11 Shaigi, 2/29 Ga’ali) and one in southern Sudan (1/72 “others”). The microsatellite haplotype diversity of 92R7-derived chromosomes in Cameroon was high, with 10 haplotypes observed among 15 individuals (h = 0.933, SE = 0.0449, average repeat size variance = 0.224).
And they point out that their finding is consistent with R1*-M173 chromosomes findings by Cruciani et al. in their 2002 study:
Our Y-chromosome data corroborate the results of Cruciani and colleagues (2002) in finding high frequencies in our Cameroonian samples of a haplogroup that is generally absent from sub-Saharan Africa. Phylogeographic arguments suggest that this haplogroup (R1*, by use of the nomenclature of the Y-Chromosome Consortium [2002]) has a non-African origin. Cruciani and colleagues (2002) found R1* Y chromosomes at an average frequency of 40% in several northern Cameroonian groups, including one Fulbe group.
With this in mind, they go onto point out that:
We found evidence for the same haplotype (typed by use of a marker that appears phylogenetically identical in this part of Africa) in our samples from central Cameroon, with a particularly high frequency (19%) in the Fulbe group that was tested.
It doesn't take much imagination to notice that the authors seemed rather eager to examine the Y DNA marker from only one of two possibilities—that is "non–sub-Saharan African population's contribution" [the alternative of course, being "African"], a role which they apparently assumed would be desirably played by the R1*-M173 chromosomes, but what the authors appear to brush aside, as noted before, is the virtual rarity of these undifferentiated R1* chromosomes outside of Africa, with the only other region with noticeable frequencies being in the Dead Sea region of Jordan; fairly low frequencies were found in an Omani sample, which is not surprising, considering that their Nile Valley neighbor [Egypt] have these undifferentiated R1*-M173 chromosomes. As a previous posting [link posted above] on this issue examined, R1*-M173 in the Dead Sea could very well likely represent African ancestry, given the geographical clines observed in its distribution therein, along with other markers indicative of African ancestry. On the other hand, the authors are apparently aware that Europe is not the source of these chromosomes, which prompts them to reckon in this manner: It seems probable that the C-to-T transition at −13.9 kb occurred in a non–sub-Saharan African population that contributed to the current population of Europe.
*Being aware of the prospect that Europe could well not be the source of the Y DNA, the authors applied the wording "non–sub-Saharan" source, rather than otherwise just assume that it was a "European source".
For a moment there, it would appear that the authors saw a correlation between R1*-M173 bearers and the prevalence of the −13.9kb*T allele. However, they run into this:
However, haplogroup R1* is also found at high frequencies in several non-Fulbe groups in the Extreme North Province of Cameroon, where the −13.9kb*T allele is found at low frequencies
And they write:
Thus, the demographic processes leading to the presence of the −13.9kb*T allele in Cameroon may not be the same as those leading to the Y-chromosome introgression but could instead relate more specifically to Fulbe migration history
The authors are right when they reckon that demographic processes, which were likely responsible for the relative prevalence of the lactose promoting allele in one segment of African R1*-M173 bearers and its absence or rarity in another segment, were distinct. However, this finding compelled the authors to re-examine the pattern of the highest prevalence of the −13.9kb*T allele in the Fulbe samples vs. its low prevalence in other high-frequency bearing R1*-M173 Cameroonians, and reconsider the role of Y DNA in explaining the presence of the C-T 13.9kb allele in the said few African groups in which it was identified.
Because of this preconceived eagerness to only explore a possible non-African ultimate source of R1*-M173 chromosomes, which as their own wording makes clear—is still tenuous and debatable, they overlooked the possibility that the mutation had originally occurred in R1*-M173 bearing Africans who were probably a highly mobile bunch, as one with think in terms of nomads, before finally settling in certain locales. Given this, the relatively low prevalence of the −13.9kb*T allele in other groups—which share high frequencies of R1*-M173 with the authors' Fulani sample—versus that of said Fulani sample, could well be explained by the possibility that the African R1*-M173 bearers with none to low −13.9kb*T are remnants of the ancestral R1*-M173 population, wherein the mutation associated with the −13.9kb*T allele had not yet occurred! Hence, if only a segment of this population—wherein the new mutation occurred and started off at low frequencies—were to migrate elsewhere and then expand, the chance of the −13.9kb*T allele (or precursor allele) bearing members rising within the population thereof, would be greater. Alternatively, if the non-Fulbe Hg R-bearing bunch in the extreme North Province of Cameroon had subsequently lost the allele type upon situating themselves due to lack of lactose-rich diet, along with gene flow from groups with weak lactose-tolerance, and assuming that said locus was/is under some other form of natural selection in the latter or other genetic contributors as well, then it is conceivable that through the act of genetic drift that allele numbers went considerably down. This latter scenario would have to be envisioned in a time frame postdating the earliest signs of cattle domestication. Remember, these are considerations only if one were examining an unequivocal or a strong correlation between the presence of Hg R bearing Y-chromosomes and the C-T 13.9kb allele.
It seems that the explanation the authors thought was most plausible to them, was to build a storyline around Fulani/Fulbe migration, as the agent for spreading the relatively limited frequencies −13.9kb*T alleles that they were able to come across in their overall African sample:
Thus, the demographic processes leading to the presence of the −13.9kb*T allele in Cameroon may not be the same as those leading to the Y-chromosome introgression but could instead relate more specifically to Fulbe migration history. Further studies on the distribution of the −13.9kb*T allele and of other genetic markers in this part of Africa are required to resolve this question.
Apparently, the authors are well aware of the fairly tenuous nature of their hypothesis, hence thereby acknowledging the need for further DNA studies to "resolve this issue". The fact that they aren't too confident about specific Fulani geographic-origins either, plays no small role in giving their theory its tenuous character...
The origins of the Fulbe are the subject of debate, but the group is thought to be from outside Cameroon; on the basis of ethnic traditions and linguistic similarities between Fulbe languages and Tukulor (Toucouleur), an origin in the Futa Toro region of the Senegal river basin has been proposed (Newman 1995).
Why Fulani origins would be a subject of debate, is beyond the present author of this blog. Both their oral traditions and primary gene pool is consistent with west African origin, as any other west African group.
There are two possible ways of looking at the origin of the situation, if one is to correlate it to the shared R1*-M173 Y DNA marker between the two African camps: a) “Convergent evolution” amongst geographically distant R1 bearing populations which had adopted a pastoral lifestyle and became lactose digesters, or b) a UEP in one geographical locale, which would imply genetic introgression ultimately from the source population to a recipient population, in which case, any correlation to the shared Y DNA R1*-M173 marker between the two tested camps, could well weaken; and if this mutation didn’t necessarily occur in some R1* bearing population, then the question arises: could it be better correlated to another marker(s)?!
And now, delving into an area with some degree of speculation...
This lactose tolerance promoting allele would not have been prominent in the original R1*-M173 bearers in their early geographical spheres of influence, even in the "Near East", through which they would have had to ultimately enter Europe. The beginning of their [R1*-M173 bearers] most outstanding expansions likely came along in or around Asian Minor, wherein those that then headed to the west would expand to give rise to R1b bearers, and those that proceeded to eastern Europe-central Asia, would eventually—at a latter time than the expansion in western Europe—give rise to R1a bearers. By this time, the −13.9kb*T allele would still not have gained any prominence, presuming that it is strongly linked to lactose tolerance promotion, as no cattle domestication had yet occurred. However, not only after cattle domestication and dairy farming, but also as a result of the persistence thereof in applying milk as a significant source of nutrition, the mutation in western Europe underwent a selective sweep that would make the type very frequent in north Europe, particularly around the Funnel Beaker region. If one were to assume that the C−13.9kbT allele occurred in R1 bearing populations, and that Europe could not have been the source of the allele in the few Africans wherein the above mentioned authors had found it, then it [the C−T 13.9kb allele] would have to have been the product of convergent evolution in geographically distant pastoral populations which descend from the same MRCA. However, if one were to absolutely rule out convergent evolution, and given that ancestral R1*-M173 chromosomes in Africa are virtually absent in Europe, then one would have to come to the conclusion that the above author's had come to—in that, the emergence of −13.9kb*T allele doesn't correlate with R1* ancestry:
Thus, the demographic processes leading to the presence of the −13.9kb*T allele in Cameroon may not be the same as those leading to the Y-chromosome introgression but could instead relate more specifically to Fulbe migration history. Further studies on the distribution of the −13.9kb*T allele and of other genetic markers in this part of Africa are required to resolve this question.
If there was only one source of the distribution of the −13.9kb*T allele found in the African samples as a product of UEP, and this happened to be of north European origin, then some other ancestry, aside from R1*-M173 of the said African groups has to be accounted for, to explain the occurrence in said African populations; if so, could this be learned from mtDNA? It certainly won't hurt to examine the prospect, given the said conditional premise. In any examination to learn whether or not the C−T 13.9kb allele—as the precise examples found in the few African samples, and in any correlation with R1*ancestry—could have been a product of convergent evolution, it would also serve to test the few R1*-M173 bearers of the Dead Sea region, and other haplogroup R1 (xR1b) bearing lactose digesters for that matter [it wouldn't be unreasonable to include even R1 (xR1b) bearing groups which are not known to have lactose-rich diet in the screening process, which one would assume, should have already been done to some degree or another at this point], to see if said −13.9kb*T allele is prevalent. What is clear from all this, is that the C−13.9kbT sequence is low to rare in the African landscape, and hence, all these guessing games on the provenance of the source of the few C−13.9kbT polymorphisms that have been found in African samples. Furthermore, the tenuous character of this whole affair about −13.9kb*T transition model being an unequivocal causal agent and/or one presumably of UEP or yet, a monophyletic lineage, is related by observations like these:
— contrasting observations, and deviations from expected results...
In a series of 48 London patients of various ancestry, from whom intestinal biopsies were obtained, the correlations of lactase activity and sucrase/lactase ratio with −13.9kb*CT and −13.9kb*TT genotype were not as tight as might have been expected for a cis-acting causal change. In contrast to this, in a recent Finnish study, the 13.9kb*CT heterozygotes did have activity intermediate between the 13.9kb*CC and 13.9kb*TT homozygotes (Kuokkanen et al. 2003).
— and to repeat: divergent monophyletic LCT-gene markers...
In a few rare individuals, high expression of the mRNA transcript, encoded by the LCT allele of a non-A haplotype chromosome, has been observed (Poulter et al. 2003). In particular, a single individual in a United Kingdom cohort was interpreted as being heterozygous for the A and B haplotypes, as well as for C−13.9kbT, and showed high expression of lactase from both transcripts, suggesting that there may be heterogeneity of the cause of lactase persistence in Europe (Poulter et al. 2003).
— multiple LP allele loci indicators...
A comparison of the occurrence of this allele, as well as alleles at other recently described loci that subdivide the A haplotype (such as G−22kbA, [Enattah et al. 2002]), suggests that−13.9kb*T is the most recent (Poulter et al. 2003).
...possibly summed up by...
It is possible that the C−13.9kbT transition occurred more recently than another (as yet unknown) mutation that is the true causal change both in Africa and Europe. Recent transfection studies do, however, suggest a functional role for C−13.9kbT (Olds and Sibley2003; Troelsen et al. 2003).
Yes, the T allele, as the transitions are so-called, may well have some "functional" role in the LCT gene that needs to be established, but apparently not as a predictor of lactase-persistence in Africa [including its R1* bearing groups, wherein some communities lacked the T allele, while others had it], which if we recall, is something that the authors themselves were observant about.
*Last modified on 2/27/2010.
________________________________________________________________
References*
—As already cited.
Other reading:
R1*-M173 Chromosomes in Africa
R1*-M173 Chromosomes in Africa - II
Mitochondrial DNA M1 haplogroup: A Response To Ana M. Gonzalez et al. 2007
Lactose Tolerance Phenotypes in Africa
Saturday, September 20, 2008
Sinai
The Sinai junction has at times been the subject of geopolitical gymnastics in anthropology, wherein any archaeological findings is given an non-African interpretation. In fact, many anthropological findings have exemplified just how this region is an extension of the Nile Valley, and hence, Africa since antiquity, as it is today. Take for instance the 'Proto-Sinaitic' script, which had been uncovered in Sinai; similar examples of the type were initially found further east, in the Levant, prompting explanations that propose the concept's spread from the Sinai into Levant. Yet even then, despite claims of the scripts located in both regions being considered to be essentially of the same type, this had not stopped references to the Levantine example of the type as "Proto-Canaanite". Perhaps more subtle, is the treatment of Sinai as an agent that can be used to demarcate what is no longer African, or Nile Valley for that matter, with developments within the Sinai region itself usually discussed from a non-African context. Look at the term "Proto-Sinaitic" itself; it is as though that region isn't recognized as part of Egypt, when indeed, it is every bit geopolitically a part of Egypt today, as it was in antiquity. If nothing else shows this, then please consider the following...
Cairo, July 22: Egypt announced on Sunday the discovery of the largest-ever military city from the Pharaonic period on the edge of the Sinai desert, part of the forts that stretched to the Gaza border.
The three forts are part of a string of 11 castles that made up the Horus military road that went from Suez all the way to the city of Rafah on the Egyptian-Palestinia border and dates to the 18th and 19th dynasties (1560-1081 BC)," said antiquities supreme Za-hi Hawwas.
Teams have been digging in the area for a decade, but the Egyptian discovery of the massive Fort Tharo and the discovery of two other fortresses confirmed the existence of the Horus fortifications described in ancient texts...
One of the biggest ancient Egyptian military fortresses dating back to about 3,500 years ago has been discovered in north Sinai, an Egyptian antiquities official said on Sunday.
The fort was believed to be built at the time of King Thutmos III (1504 BC-1452 BC), Mohamed Adel Maqsoud, head of the Higher Antiquities Council team that made the discovery, was quoted by the Egyptian MENA news agency as saying.
The fort was unearthed on the ancient Horus military road between Egypt and the Palestinian territory, some 3 km off the Suez Canal in the area of Qantara Sharq, he said.
Maqsoud said that the newly discovered fort remains indicated the once gigantic military fort was 500-meter long and 250-meter wide, built with 13-meter-wide brick walls.
It also has a 12-meter-wide southern entrance with two-meter- high walls, he added.
Egyptian armies in the era of the pharaonic modern state took the military fort, which was the eastern front of the ancient Egyptian town of Tharo, as the starting point to protect the country's eastern gateway, according to Maqsoud.
Courtesy of deccan.com and Xinhua
As the present author has noted elsewhere before, Egyptians had fortresses both on the northern and southern borders to control movements into the country. Naturally, this should tell us that 'foreigners' didn't come in droves as they pleased without the Egyptian authorization, as many laypersons are predisposed to believing, given all the hype and portrayal of ancient Egyptians as some sort of mystical "Mediterranean" types. Listening to the way some people frame history, showing just how much thought they put into their claims, one gets away with the idea that somehow the north was sort of a no-man's land, while the southern border was heavily guarded to restrict movement of people from further south. Some others make it seem like both the southern and northern ends of the country had a "no-man's land" type of situation, allowing unfettered flow of people from the northern and southern neighboring regions, thereby turning Egypt into what they call a 'melting pot'. Undoubtedly, these fortresses were there to primarily protect Dynastic Egypt from potential rivals mainly to its east and its south, and also oversee 'controlled' movement of people in and out of the country. This would have meant gradual and controlled inflow of migrants into the region over time, barring military incursions or attempts at military incursion; these militarized fortresses served a role no different than militarized borders of many nations today.
There is a perception in some quarters that Egypt's southern neighbors may not have been a potent of threat to ancient Egyptians as their eastern neighbors were; the wisdom here, is that when the Kushitic complex was not paying tribute to the Egyptian state under Egyptian control, it was generally an ally. In geo-politics strange things can happen, where allies can also be rivals suspicious of one another; "strange bedfellows" comes to mind as a descriptive word. Is there any reason to assume that Kushites weren't considered as potent a threat to the Egyptian state as any other outside the state's immediate borders? Kushites were not only a rival during the Middle Kingdom in particular, but even during the Roman occupation. The Romans experienced first hand just how much of a pain the Kushites could be. Heck, they even ruled the Nation in the 25th dynasty, and nearly came close to doing so even earlier, according an Egyptian inscription in a richly decorated tomb at El Kab, near Thebes, in Upper Egypt, dating to about the same time as the date of the above mentioned military fortress on the Sinai region ca. 3,500 years [see: Tomb reveals Ancient Egypt's humiliating secret, by Dalya Alberge, 2005] . So apparently, the Egyptian knew the Kushites better than to entertain the idea that they posed little potential threat, and so, made no qualms about building militarized fortresses to their southern border as well. That said, Kushites were also most counted on in helping restore native consolidation of power in Dynastic Egypt, especially under Kushitic rule in the 25th Dynasty. It appears that Kushite mercenaries were even used in the Levant to help "Israelites" fight Assyrians ca. 8th century BC [see: The Rescue of Jerusalem: The Alliance Between Hebrews and Africans in 701 B.C., by Henry T. Aubin (April 1, 2003)].
Going back to that issue of "Proto-Sinaitic" script, it apparently served as another sign of the region being essentially an extension of the Nile Valley, aside from its prehistoric role as a corridor for the movement of people from [Mushabians or ancestors of Natufians as an example] and into the region, when the elements of the script where found deep in the Nile Valley, in a tomb [belonging to a King Scorpion] located in Abydos, dating back to ca. 3400 BC or so, earlier than the examples found in the Sinai region itself. The importance of the script of course, particularly to cultures outside of Africa, is that it is parent to a great deal of scripts that are used to communicate both Afrasan (Afro-Asiatic) and Indo-European languages [like almost all the languages of western Europe]. Certain themes of this posting will be revisited in future postings here.
Cairo, July 22: Egypt announced on Sunday the discovery of the largest-ever military city from the Pharaonic period on the edge of the Sinai desert, part of the forts that stretched to the Gaza border.
The three forts are part of a string of 11 castles that made up the Horus military road that went from Suez all the way to the city of Rafah on the Egyptian-Palestinia border and dates to the 18th and 19th dynasties (1560-1081 BC)," said antiquities supreme Za-hi Hawwas.
Teams have been digging in the area for a decade, but the Egyptian discovery of the massive Fort Tharo and the discovery of two other fortresses confirmed the existence of the Horus fortifications described in ancient texts...
One of the biggest ancient Egyptian military fortresses dating back to about 3,500 years ago has been discovered in north Sinai, an Egyptian antiquities official said on Sunday.
The fort was believed to be built at the time of King Thutmos III (1504 BC-1452 BC), Mohamed Adel Maqsoud, head of the Higher Antiquities Council team that made the discovery, was quoted by the Egyptian MENA news agency as saying.
The fort was unearthed on the ancient Horus military road between Egypt and the Palestinian territory, some 3 km off the Suez Canal in the area of Qantara Sharq, he said.
Maqsoud said that the newly discovered fort remains indicated the once gigantic military fort was 500-meter long and 250-meter wide, built with 13-meter-wide brick walls.
It also has a 12-meter-wide southern entrance with two-meter- high walls, he added.
Egyptian armies in the era of the pharaonic modern state took the military fort, which was the eastern front of the ancient Egyptian town of Tharo, as the starting point to protect the country's eastern gateway, according to Maqsoud.
Courtesy of deccan.com and Xinhua
As the present author has noted elsewhere before, Egyptians had fortresses both on the northern and southern borders to control movements into the country. Naturally, this should tell us that 'foreigners' didn't come in droves as they pleased without the Egyptian authorization, as many laypersons are predisposed to believing, given all the hype and portrayal of ancient Egyptians as some sort of mystical "Mediterranean" types. Listening to the way some people frame history, showing just how much thought they put into their claims, one gets away with the idea that somehow the north was sort of a no-man's land, while the southern border was heavily guarded to restrict movement of people from further south. Some others make it seem like both the southern and northern ends of the country had a "no-man's land" type of situation, allowing unfettered flow of people from the northern and southern neighboring regions, thereby turning Egypt into what they call a 'melting pot'. Undoubtedly, these fortresses were there to primarily protect Dynastic Egypt from potential rivals mainly to its east and its south, and also oversee 'controlled' movement of people in and out of the country. This would have meant gradual and controlled inflow of migrants into the region over time, barring military incursions or attempts at military incursion; these militarized fortresses served a role no different than militarized borders of many nations today.
There is a perception in some quarters that Egypt's southern neighbors may not have been a potent of threat to ancient Egyptians as their eastern neighbors were; the wisdom here, is that when the Kushitic complex was not paying tribute to the Egyptian state under Egyptian control, it was generally an ally. In geo-politics strange things can happen, where allies can also be rivals suspicious of one another; "strange bedfellows" comes to mind as a descriptive word. Is there any reason to assume that Kushites weren't considered as potent a threat to the Egyptian state as any other outside the state's immediate borders? Kushites were not only a rival during the Middle Kingdom in particular, but even during the Roman occupation. The Romans experienced first hand just how much of a pain the Kushites could be. Heck, they even ruled the Nation in the 25th dynasty, and nearly came close to doing so even earlier, according an Egyptian inscription in a richly decorated tomb at El Kab, near Thebes, in Upper Egypt, dating to about the same time as the date of the above mentioned military fortress on the Sinai region ca. 3,500 years [see: Tomb reveals Ancient Egypt's humiliating secret, by Dalya Alberge, 2005] . So apparently, the Egyptian knew the Kushites better than to entertain the idea that they posed little potential threat, and so, made no qualms about building militarized fortresses to their southern border as well. That said, Kushites were also most counted on in helping restore native consolidation of power in Dynastic Egypt, especially under Kushitic rule in the 25th Dynasty. It appears that Kushite mercenaries were even used in the Levant to help "Israelites" fight Assyrians ca. 8th century BC [see: The Rescue of Jerusalem: The Alliance Between Hebrews and Africans in 701 B.C., by Henry T. Aubin (April 1, 2003)].
Going back to that issue of "Proto-Sinaitic" script, it apparently served as another sign of the region being essentially an extension of the Nile Valley, aside from its prehistoric role as a corridor for the movement of people from [Mushabians or ancestors of Natufians as an example] and into the region, when the elements of the script where found deep in the Nile Valley, in a tomb [belonging to a King Scorpion] located in Abydos, dating back to ca. 3400 BC or so, earlier than the examples found in the Sinai region itself. The importance of the script of course, particularly to cultures outside of Africa, is that it is parent to a great deal of scripts that are used to communicate both Afrasan (Afro-Asiatic) and Indo-European languages [like almost all the languages of western Europe]. Certain themes of this posting will be revisited in future postings here.
Tuesday, September 16, 2008
Comments on the Photo-protective qualities of epidermal Melanin Content of skin
Based on extracts from Yamaguchi et al. 2006, we have the following:
— DNA damage in the upper epidermis immediately after UV exposure was similar among racial/ethnic groups but levels of DNA damage in the lower concentration of the epidermis was inversely proportional to the melanin content.
Courtesy of Yamaguchi et al. 2006: Figure 1. A) Representative images of CPD DNA damage in fair, intermediate and dark skin immediately and 7 d after UV exposure; green and red fluorescence represent CPD and DNA, respectively. (———) demarks the top of the granular layer of the epidermis, (- - - -) demarks the epidermal:dermal junction, and (· · · · ·) represents the division between the upper and lower epidermal layers. B) Representative images of CPD (green) in melanocytes (stained red for tyrosinase) immediately after UV in fair, intermediate and dark skin.
— Pulse lasers cause highly selective injury to cells containing melanosomes suggesting that the UV energy absorbed by melanin in the upper epidermis causes photothermolysis (heat damage) to pigmented cells.
— The oncogene p53 plays important roles in responses to UV-induced DNA damage and induction of DNA repair. There is an overall nuclear accumulation of p53 in response to UV. More than 13 sites of p53 are known to be phosphorylated, one of them being a critical site at Ser-46, which is associated with the induction of apoptosis.
More p53 accumulated in the nuclei of cells in fair skin than in dark skin at 1 d and at 7 d after UV exposure. However, phosphorylation of p53 at Ser-46 was not seen in fair skin, whereas it was readily seen in dark skin 1 d after UV exposure…
Phosphorylation of p53 at Ser-46, which is associated with the induction of apoptosis, occurred at low levels in fair skin after low doses of UV exposure but was significant in dark skin, suggesting that p53 phosphorylation site is involved in UV-induced apoptosis in epidermis with abundant levels of melanin.
TUNEL assays showed that significantly more apoptotic cells were found in Black skin equivalents than in Asian or White skin equivalents at both UV doses...
— nuclear accumulation of p53 is less in dark skin than in fair skin, suggesting that the overall activation of p53 following UV-induced DNA damage is greater in fair skin. The sustained activation of p53 may also in part cause the higher incidence of photo carcinogenesis in fair skin.
— melanin content is responsible for the apoptosis. Cells containing melanin in the upper epidermis of dark skin tended to undergo more apoptosis after UV than do those of fair skin. Thus, the presence of melanin facilitates the apoptotic effect of UV on cells but whether that results from photothermolysis or whether other properties of melanins are involved will require further study.
Taken together,…
— UV-induced DNA damage in the lower epidermis (which contains keratinocyte stem cells and melanocytes) is not effectively prevented in fair skin because of the low melanin content in the upper (and lower) epidermis.
— DNA damage in the upper epidermis is quite similar among all types of skin, which indicates that epidermal pigmentation is an efficient UV filter for underlying cells.
— UV-induced apoptosis was virtually absent in fair skin after low UV doses, but was significant in dark skin, facilitating the effective removal of UV-damaged cells in dark skin.
— Virtually all epidermal cells had significant DNA damage in fair skin but only ~1% of them became apoptotic whereas less than 50% of epidermal cells in dark skin had significant DNA damage, yet ~ 5% of those cells were apoptotic.
— The combination of relatively low DNA damage and efficient removal of UV-damaged cells contributes to the decreased incidence of skin cancer in darker skin.
we conclude that the upper epidermis of dark skin is significantly more photoprotective for the deeper tissue against UV damage than that of fair skin.
And now, on the understanding gleaned from the above, some personal observations about the photo-protective qualities of epidermal melanin content:
Essentially, the side effect of UV-radiation damage of DNA in epidermal cells is the activation of the p53 gene to presumably suppress cell division of damaged DNA, and allow for repair, which would explain the accumulation of this type in cell nuclei after UV exposure. However, given the greater DNA damage in fair skin due to reduced melanin content, more p53 are activated than the case is for dark skin; the other problem here though, seems to be that there is also a strong correlation between the phosphorylation of p53 at the Ser-46 locus of the gene, which appears to be critical for apoptosis, and epidermal melanin content; the greater the epidermal melanin, the greater chances of greater occurrence of nuclear p53 genes phosphorylated at their Ser-46 locus. The precise triggering aspect of melanin on apoptosis is something that is subject to further investigation, according to Yamaguchi et al.: the presence of melanin facilitates the apoptotic effect of UV on cells but whether that results from photothermolysis or whether other properties of melanins are involved will require further study.
Since this development [phosphorylation] at the Ser-46 locus appears to be much rarer on p53 genes in epidermal cells of fair skin, the prospect of apoptosis occurring after UV exposure is substantially lower, if not rare. This means that damaged DNA are allowed to spread via cell division and so, defects being passed onto daughter cells; on the other hand, greater presence of phosphorylation of the p53 gene at its Ser-46 locus in dark skin epidermal cells allows for effective removal of UV-induced damaged DNA. So, it would appear that the hindrance of p53 gene in fair skin epidermal cells to play a role in removal of cells containing damaged DNA in the process of assisting in DNA repair, at least in part, interrupts the optimal balance between cell division and apoptosis, thereby contributing to photo-carcinogenesis. [see: Yamaguchi et al. 2006; Human skin responses to UV radiation: Pigment in the upper epidermis protects against DNA damage in the lower epidermis and facilitates apoptosis]
_____________________________________________________________
*Related reading:
— Skin pigmentation gene alleles
— Skin pigmentation gene alleles — Part 2
— DNA damage in the upper epidermis immediately after UV exposure was similar among racial/ethnic groups but levels of DNA damage in the lower concentration of the epidermis was inversely proportional to the melanin content.
Courtesy of Yamaguchi et al. 2006: Figure 1. A) Representative images of CPD DNA damage in fair, intermediate and dark skin immediately and 7 d after UV exposure; green and red fluorescence represent CPD and DNA, respectively. (———) demarks the top of the granular layer of the epidermis, (- - - -) demarks the epidermal:dermal junction, and (· · · · ·) represents the division between the upper and lower epidermal layers. B) Representative images of CPD (green) in melanocytes (stained red for tyrosinase) immediately after UV in fair, intermediate and dark skin.
— Pulse lasers cause highly selective injury to cells containing melanosomes suggesting that the UV energy absorbed by melanin in the upper epidermis causes photothermolysis (heat damage) to pigmented cells.
— The oncogene p53 plays important roles in responses to UV-induced DNA damage and induction of DNA repair. There is an overall nuclear accumulation of p53 in response to UV. More than 13 sites of p53 are known to be phosphorylated, one of them being a critical site at Ser-46, which is associated with the induction of apoptosis.
More p53 accumulated in the nuclei of cells in fair skin than in dark skin at 1 d and at 7 d after UV exposure. However, phosphorylation of p53 at Ser-46 was not seen in fair skin, whereas it was readily seen in dark skin 1 d after UV exposure…
Phosphorylation of p53 at Ser-46, which is associated with the induction of apoptosis, occurred at low levels in fair skin after low doses of UV exposure but was significant in dark skin, suggesting that p53 phosphorylation site is involved in UV-induced apoptosis in epidermis with abundant levels of melanin.
TUNEL assays showed that significantly more apoptotic cells were found in Black skin equivalents than in Asian or White skin equivalents at both UV doses...
— nuclear accumulation of p53 is less in dark skin than in fair skin, suggesting that the overall activation of p53 following UV-induced DNA damage is greater in fair skin. The sustained activation of p53 may also in part cause the higher incidence of photo carcinogenesis in fair skin.
— melanin content is responsible for the apoptosis. Cells containing melanin in the upper epidermis of dark skin tended to undergo more apoptosis after UV than do those of fair skin. Thus, the presence of melanin facilitates the apoptotic effect of UV on cells but whether that results from photothermolysis or whether other properties of melanins are involved will require further study.
DNA damage in the upper epidermis immediately after UV exposure was similar among racial/ethnic groups but levels of DNA damage in the lower concentration of the epidermis was inversely proportional to the melanin content.
— UV-induced DNA damage in the lower epidermis (which contains keratinocyte stem cells and melanocytes) is not effectively prevented in fair skin because of the low melanin content in the upper (and lower) epidermis.
— DNA damage in the upper epidermis is quite similar among all types of skin, which indicates that epidermal pigmentation is an efficient UV filter for underlying cells.
— UV-induced apoptosis was virtually absent in fair skin after low UV doses, but was significant in dark skin, facilitating the effective removal of UV-damaged cells in dark skin.
— Virtually all epidermal cells had significant DNA damage in fair skin but only ~1% of them became apoptotic whereas less than 50% of epidermal cells in dark skin had significant DNA damage, yet ~ 5% of those cells were apoptotic.
— The combination of relatively low DNA damage and efficient removal of UV-damaged cells contributes to the decreased incidence of skin cancer in darker skin.
we conclude that the upper epidermis of dark skin is significantly more photoprotective for the deeper tissue against UV damage than that of fair skin.
And now, on the understanding gleaned from the above, some personal observations about the photo-protective qualities of epidermal melanin content:
Essentially, the side effect of UV-radiation damage of DNA in epidermal cells is the activation of the p53 gene to presumably suppress cell division of damaged DNA, and allow for repair, which would explain the accumulation of this type in cell nuclei after UV exposure. However, given the greater DNA damage in fair skin due to reduced melanin content, more p53 are activated than the case is for dark skin; the other problem here though, seems to be that there is also a strong correlation between the phosphorylation of p53 at the Ser-46 locus of the gene, which appears to be critical for apoptosis, and epidermal melanin content; the greater the epidermal melanin, the greater chances of greater occurrence of nuclear p53 genes phosphorylated at their Ser-46 locus. The precise triggering aspect of melanin on apoptosis is something that is subject to further investigation, according to Yamaguchi et al.: the presence of melanin facilitates the apoptotic effect of UV on cells but whether that results from photothermolysis or whether other properties of melanins are involved will require further study.
Since this development [phosphorylation] at the Ser-46 locus appears to be much rarer on p53 genes in epidermal cells of fair skin, the prospect of apoptosis occurring after UV exposure is substantially lower, if not rare. This means that damaged DNA are allowed to spread via cell division and so, defects being passed onto daughter cells; on the other hand, greater presence of phosphorylation of the p53 gene at its Ser-46 locus in dark skin epidermal cells allows for effective removal of UV-induced damaged DNA. So, it would appear that the hindrance of p53 gene in fair skin epidermal cells to play a role in removal of cells containing damaged DNA in the process of assisting in DNA repair, at least in part, interrupts the optimal balance between cell division and apoptosis, thereby contributing to photo-carcinogenesis. [see: Yamaguchi et al. 2006; Human skin responses to UV radiation: Pigment in the upper epidermis protects against DNA damage in the lower epidermis and facilitates apoptosis]
_____________________________________________________________
*Related reading:
— Skin pigmentation gene alleles
— Skin pigmentation gene alleles — Part 2
The possibility that Ancient Egyptian was a regional Lingua Franca...
Often times, people discuss how lower Nile Valley polities united with the Upper Nile Valley ones, with the initiative coming largely from upper Nile Valley ruling elites; yet, it almost never comes up or crosses the mind, that these discrete polities might have well very likely spoke distinctive dialects, if not language types altogether, as well. This would mean that there would have been a common language to facilitate trade during the pre-dynastic era, and a common language to effectively unify all the previously discrete autonomous Nile Valley polities under one national language. This language would have no doubt, functioned as a regional lingua franca; the same could be said of the regions south of Egypt, which contemporary Egyptologists have a habit of generically referring to as "Nubia".
The questions that ought to come to mind, should be for example, as follows:
With some emphasis placed on language…
Relevant reading from Keita and Boyce, Genetics, Egypt, And History: Interpreting Geographical Patterns Of Y Chromosome Variation, 2005:
“Later there is some movement into Africa after the domestication of plants and Ovacaprines, which happened in the Near East nearly 2000 years before it occurred in Egypt (Hassan 1988, Wetterstrom 1993). Early Neolithic levels in northern Egypt contain the Levantine domesticates, and show some influence in material culture as well (Kobusiewicz 1992). Ovacaprines appear in the western desert before the Nile valley proper (Wendorf and Schild 2001). However, it is significant that ancient Egyptian words for the major Near Eastern domesticates - Sheep, goat, barley, and wheat - are not loans from either Semitic, Sumerian, or Indo-European. This argues against a mass settler colonization (at replacement levels) of the Nile valley from the Near East at this time. This is in contrast with some words for domesticates in some early Semitic languages, which are likely Sumerian loan words (Diakonoff 1981).
This evidence indicates that northern Nile valley peoples apparently incorporated the Near Eastern domesticates into a Nilotic foraging subsistence tradition **on their own terms** (Wetterstrom 1993). There was apparently no “Neolithic revolution” brought by settler colonization, but a gradual process of neolithicization (Midant-Reynes 2000).
(Also some of those emigrating may have been carrying Haplotype V, descendents of earlier migrants from the Nile valley, given the postulated “Mesolithic” time of the M35 lineage emigration). It is more probable that the current VII and VIII frequencies, greatest in northern Egypt, reflect in the main (but not solely) movements during the Islamic period (Nebel et al. 2002), when some deliberate settlement of Arab tribes was done in Africa, and the effects of polygamy. There must also have been some impact of Near Easterners who settled in the delta at various times in ancient Egypt (Gardiner 1961). More recent movements, in the last two centuries, must not be forgotten in this assessment.
And Continued! Keita and Boyce, on the peopling of the Nile Valley…
“Archeological data, or the absence of it, have been interpreted as suggesting a population hiatus in the settlement of the Nile Valley between Epipaleolithic and the Neolithic/predynastic, but this apparent lack could be due to material now being covered over by the Nile (see Connor and Marks 1986, Midant-Reynes 2000, for a discussion). Analogous to events in the Atacama Desert in Chile (Nunez et al. 2002), a moister more inhabitable eastern Sahara gained more human population in the late Pleistocene-early Holocene (Wendorf and Schild 1980, Hassan 1988, Wndorf and Schild 2001). If the hiatus was real then perhaps many Nile populations became Saharan.
Later, stimulated by mid-Holocene droughts, migration from the Sahara contributed population to the Nile Valley (Hassan 1988, Kobusiewicz 1992, Wendorf and Schild 1980, 2001); the predynastic of upper Egypt and later Neolithic in lower Egypt show clear Saharan affinities. A striking increase e of pastoralists’ hearths are found in the Nile valley dating to between 5000-4000 BCE (Hassan 1988). Saharan Nilo-Saharan speakers may have been initial domesticators of African cattle found in the Sahara (see Ehret 2000, Wendorf et. Al. 1987). Hence there was a Saharan “Neolithic” with evidence for domesticated cattle before they appear in the Nile valley (Wendorf et al. 2001). If modern data can be used, there is no reason to think that the peoples drawn into the Sahara in the earlier periods were likely to have been biologically or linguistically uniform.
…A dynamic diachronic interaction consisting of the fusion, fissioning, and perhaps “extinction” of populations, with a decrease in overall numbers as the environment eroded, can easily be envisioned in the heterogenous landscape of the eastern Saharan expanse, with its oases and Wadis, that formed a reticulated pattern of habitats. This fragile and changing region with the Nile Valley in the early to mid-Holocene can be further envisioned as holding a population whose subdivisions maintained some distinctiveness, but did exchange genes. Groups would have been distributed in settlements based on resources, but likely had contacts based on artifact variation (Wendorf and Schild 2001). Similar pottery can be found over extensive areas. Transhumance between the Nile valley and the Sahara would have provided east-west contact, even before the later migration largely emptied parts of the eastern Sahara.
Early speakers of Nilo-Saharan and Afroasiatic apparently interacted based on the evidence of loan words (Ehret, personal communication). Nilo-Saharan’s current range is roughly congruent with the so-called Saharo-Sudanese or Aqualithic culture associated with the less arid period (Wendorf and Schild 1980), and therefore cannot be seen as intrusive. Its speakers are found from the Nile to the Niger rivers in the Sahara and Sahel, and south into Kenya. The eastern Sahara was likely a micro--evolutionary processor and pump of populations, who may have developed various specific sociocultural (and linguistic) identities, but were genealogically “mixed” in terms of origins.
These identities may have further crystallized on the Nile, or fused with those of resident populations that were already differentiated. The genetic profile of the Nile Valley via the fusion of the Saharans and the indigenous peoples were likely established in the main long before the Middle Kingdom…
…Hoffman (1982) noted cattle burials in Hierakonpolis, the most important of predynastic upper Egyptian cities in the later predynastic. This custom might reflect Nubian cultural impact, a common cultural background, or the presence of Nubians...
Apparently, all these different groups would have found a way to communicate with each other.
Considering that there was an inter-trade network along the Nile Valley long before unification, another possibility is the idea of a 'trade language' being developed, and then developing into what would become Egyptic of Pharaonic Egypt.
Clyde Winters chimes in with this interesting note:
You are on to something.
It will be difficult to really elaborate this theme given our knowledge about Egyptian language. But the use of two different "cursive" scripts: Hieratic and Demotic, by two different ruling groups, may indicate that different languages and traditions of writing may have existed in Egypt in ancient times.
The questions that ought to come to mind, should be for example, as follows:
- Did pre-dynastic Lower Egyptians "originally" speak the same languages as their pre-dynastic Upper Egyptian counterparts?
- Did the pre-dynastic Lower Egyptian polities amongst themselves speak a single language, or was there only a single pre-dynastic Lower Egyptian polity [which would seem very unlikely, given the different archaeological complexes of the so-designated regions] with a single language? As for predynastic Upper Egypt, it is well known that not a single polity existed therein at the time; so, did these polities speak the same language, or did they adopt a sub-regional lingua franca in Upper Egypt, all the way to parts of northern Sudan?
- Did Egypt, upon unification, take the language of the dominant ruling elites as the regional lingua franca, which would become Egyptic, or was this simply developed by the merging of language elements from all the regions brought under unity? The same scenario can be played in Kush, where Kushitic/Meroetic language would serve as the regional lingua franca. This was a polity, as can be seen from artistic impressions, to be quite diverse. Could something like what happened in Ethiopia, and elsewhere in Africa, i.e. West Africa and South Africa, have happened in these regions, with Amarinya becoming a sort of lingua franca for the various groups with their distinctive tongues?
Consider for example, the following recap on at least one observation made about predynastic developments in lower and upper Egyptian regions:
With some emphasis placed on language…
Relevant reading from Keita and Boyce, Genetics, Egypt, And History: Interpreting Geographical Patterns Of Y Chromosome Variation, 2005:
“Later there is some movement into Africa after the domestication of plants and Ovacaprines, which happened in the Near East nearly 2000 years before it occurred in Egypt (Hassan 1988, Wetterstrom 1993). Early Neolithic levels in northern Egypt contain the Levantine domesticates, and show some influence in material culture as well (Kobusiewicz 1992). Ovacaprines appear in the western desert before the Nile valley proper (Wendorf and Schild 2001). However, it is significant that ancient Egyptian words for the major Near Eastern domesticates - Sheep, goat, barley, and wheat - are not loans from either Semitic, Sumerian, or Indo-European. This argues against a mass settler colonization (at replacement levels) of the Nile valley from the Near East at this time. This is in contrast with some words for domesticates in some early Semitic languages, which are likely Sumerian loan words (Diakonoff 1981).
This evidence indicates that northern Nile valley peoples apparently incorporated the Near Eastern domesticates into a Nilotic foraging subsistence tradition **on their own terms** (Wetterstrom 1993). There was apparently no “Neolithic revolution” brought by settler colonization, but a gradual process of neolithicization (Midant-Reynes 2000).
(Also some of those emigrating may have been carrying Haplotype V, descendents of earlier migrants from the Nile valley, given the postulated “Mesolithic” time of the M35 lineage emigration). It is more probable that the current VII and VIII frequencies, greatest in northern Egypt, reflect in the main (but not solely) movements during the Islamic period (Nebel et al. 2002), when some deliberate settlement of Arab tribes was done in Africa, and the effects of polygamy. There must also have been some impact of Near Easterners who settled in the delta at various times in ancient Egypt (Gardiner 1961). More recent movements, in the last two centuries, must not be forgotten in this assessment.
And Continued! Keita and Boyce, on the peopling of the Nile Valley…
“Archeological data, or the absence of it, have been interpreted as suggesting a population hiatus in the settlement of the Nile Valley between Epipaleolithic and the Neolithic/predynastic, but this apparent lack could be due to material now being covered over by the Nile (see Connor and Marks 1986, Midant-Reynes 2000, for a discussion). Analogous to events in the Atacama Desert in Chile (Nunez et al. 2002), a moister more inhabitable eastern Sahara gained more human population in the late Pleistocene-early Holocene (Wendorf and Schild 1980, Hassan 1988, Wndorf and Schild 2001). If the hiatus was real then perhaps many Nile populations became Saharan.
Later, stimulated by mid-Holocene droughts, migration from the Sahara contributed population to the Nile Valley (Hassan 1988, Kobusiewicz 1992, Wendorf and Schild 1980, 2001); the predynastic of upper Egypt and later Neolithic in lower Egypt show clear Saharan affinities. A striking increase e of pastoralists’ hearths are found in the Nile valley dating to between 5000-4000 BCE (Hassan 1988). Saharan Nilo-Saharan speakers may have been initial domesticators of African cattle found in the Sahara (see Ehret 2000, Wendorf et. Al. 1987). Hence there was a Saharan “Neolithic” with evidence for domesticated cattle before they appear in the Nile valley (Wendorf et al. 2001). If modern data can be used, there is no reason to think that the peoples drawn into the Sahara in the earlier periods were likely to have been biologically or linguistically uniform.
…A dynamic diachronic interaction consisting of the fusion, fissioning, and perhaps “extinction” of populations, with a decrease in overall numbers as the environment eroded, can easily be envisioned in the heterogenous landscape of the eastern Saharan expanse, with its oases and Wadis, that formed a reticulated pattern of habitats. This fragile and changing region with the Nile Valley in the early to mid-Holocene can be further envisioned as holding a population whose subdivisions maintained some distinctiveness, but did exchange genes. Groups would have been distributed in settlements based on resources, but likely had contacts based on artifact variation (Wendorf and Schild 2001). Similar pottery can be found over extensive areas. Transhumance between the Nile valley and the Sahara would have provided east-west contact, even before the later migration largely emptied parts of the eastern Sahara.
Early speakers of Nilo-Saharan and Afroasiatic apparently interacted based on the evidence of loan words (Ehret, personal communication). Nilo-Saharan’s current range is roughly congruent with the so-called Saharo-Sudanese or Aqualithic culture associated with the less arid period (Wendorf and Schild 1980), and therefore cannot be seen as intrusive. Its speakers are found from the Nile to the Niger rivers in the Sahara and Sahel, and south into Kenya. The eastern Sahara was likely a micro--evolutionary processor and pump of populations, who may have developed various specific sociocultural (and linguistic) identities, but were genealogically “mixed” in terms of origins.
These identities may have further crystallized on the Nile, or fused with those of resident populations that were already differentiated. The genetic profile of the Nile Valley via the fusion of the Saharans and the indigenous peoples were likely established in the main long before the Middle Kingdom…
…Hoffman (1982) noted cattle burials in Hierakonpolis, the most important of predynastic upper Egyptian cities in the later predynastic. This custom might reflect Nubian cultural impact, a common cultural background, or the presence of Nubians...
Apparently, all these different groups would have found a way to communicate with each other.
Considering that there was an inter-trade network along the Nile Valley long before unification, another possibility is the idea of a 'trade language' being developed, and then developing into what would become Egyptic of Pharaonic Egypt.
Clyde Winters chimes in with this interesting note:
You are on to something.
It will be difficult to really elaborate this theme given our knowledge about Egyptian language. But the use of two different "cursive" scripts: Hieratic and Demotic, by two different ruling groups, may indicate that different languages and traditions of writing may have existed in Egypt in ancient times.
Monday, September 15, 2008
How the term "Berber" stuck to modern day Amazighan speakers
Regardless of the ultimate origins of the term "Berber", it seems pretty clear that the term became particularly synonymous with contemporary Imazighen speakers from the Medieval era onwards, specifically during "Moorish" rule in Europe. And of course today, within the scholarly world of the so-called 'West', the application of this term is justified on the condition that it is strictly a linguistic construct for a Afrasan (Afro-Asiatic) subphylum of certain closely related languages. The term itself is never applied by Imazighen groups to refer to themselves, and so, in that sense, foreign to them. Imazighen groups generally refer to themselves as '- mazigh' in one dialect variant or another. There are several theories out there, as to how the term came to particularly designate Imazighen groups, as opposed to random groups of "strange" or "foreign" people, but the most plausible of these, is the Arab/Moorish connection in Europe. Let's examine...
To the ancient Greeks, the idea of strangers or foreigners wasn't limited to just northwest Africans; rather, it also covered 'strange' people in their own European backyard. Europeans to their north were generally seen as strange, if not uncultured, from the ancient Greek standpoint; their cultural manners were seen as peculiar and foreign to ancient Greeks, and so, they were referred to as 'barbary' (barbarians). Certainly, this term was applied to elements of northeast African populations in the Nile Valley as well; consider this piece on Achilles Tatius' thoughts for instance, with regards to late dynastic delta ancient Egyptians:
"All were huge, black-skinned [not the pure black of the Indians , more as you would imagine a half-caste Ethiopian], bare-headed, light of foot but broad of body. They were all speaking a barbarian language. " - Extracts presumably from Achilles Tatius: Leucippe and Clitophon
Tim Whitmarsh who translated the work and Helen Morales who gave a synopsis of the work, characterize the above description as a reference to some Nile Valley elements who were apparently seen as a nuisance to Greek interest, because we are told that the folks who were so-described [aka the "boukoli" bandits of the coastal areas of the Nile Valley], where one of those groups who were singled out by this sort of characterization, which amounts to an image of "unculturedness"; whereas...
All of the characters, weather they are natives of Phoenicia, Byzantium, Egypt, or Ephesus, speak in Greek, have Greek names, and demonstrate Greek paideis or culture. The exceptions are the boukoli, the bandits who ambush Leucippe and Clitophon. They are described as ''terrifying savages". - by Helen Morales (Introduction) and Tim Whitmarsh (Translator)
But Morales and Whitmarsh warn of any premature conclusions to be drawn from this "Greekifying" of things not actually Greek:
But to read Achille's description as a reflection of reality is grossly to underplay his rhetoric of demonization. The boukoli are caricatures , like other ethnocentric stereotypes of Egyptians elsewhere in the novel [eg at 4.4: ''Thus it is with an Egypt: in times of fear cowardice leads him to servility''] Geographic and description ethnographicreinforce this construction of the alterity of Egypt...
The description of the Egyptian clod of earth emphasizes its different and strangeness [3.13, and cf. the description of the Nile's duplicity at 4.12].
Despite Achillies' being a native of Alexandria, he perpetuates the ethnocentric stereotypes of Egypt familiar from many centuries' construction of Greek self-definition against the 'Barbarian'. - by Helen Morales (Introduction) and Tim Whitmarsh (Translator)
What does this say of the Greeks? The last bit about "Greek self-definition against the Barbarian" goes back to what the above authors reckon to be Greek arrogance of "reaffirmation of Hellenic superiority"; it serves to explain why the aforementioned point about "Greekifying" things not Greek where convenient or the opportunity to do so, was done so; to recap: All of the characters, weather they are natives of Phoenicia, Byzantium, Egypt, or Ephesus, speak in Greek, have Greek names, and demonstrate Greek paideis or culture. The exceptions are the boukoli, the bandits who ambush Leucippe and Clitophon. They are described as ''terrifying savages". - by Helen Morales (Introduction) and Tim Whitmarsh (Translator)
Perhaps might explain why Egyptian names were given Greek alternatives, like say Ausar for example, which is given the Greek alternative of "Osiris"; it might well tie into that theme of "reaffirmation of Hellenic superiority". All things great, even if not Greek, but has been brought into sphere of Greek interest, would have to be "Greekified" in some way or another. At any rate, the point here, was to show lack of restrictiveness to Greek application of "barbarian" to anyone or anything that was out of the norm from the Greek standpoint; it certainly wasn't restricted to coastal northwest African regions, and so, the idea of ancient Greeks being the source of this designation vis-a-vis northwest African Imazighen groups by sections of European scholars from the Medieval era onwards is a questionable one. The Roman application of such a term faired no differently.
Some sources suggest that the earliest north European examples of exclusive reference of "Berber" — that is, in that form as we know it, which is not exactly "Barbarian" as the Greek word itself, occur in French texts. The French word itself for anything strange or foreign is "étranger", and "babarian" — "barbare". Incidentally, Arabs in the Medieval era, during their endeavors in north Africa, exclusively called coastal northwest Africa, as opposed to the whole of coastal north Africa, as Bilad al Barbar ~ essentially meaning: Land of the Barbar/”Berber”. Could the Arab term have ultimately been attained from Indo-European infusion? Perhaps possible, but unless brought to immediate attention, no other north African region, save for the northwest region — which was also designated as Maghreb al Aksa by Arabs from the so-called Near East — has been so-designated as "Bilad al Barbar". Coincidentally, this is also the same region from where Arab and Moorish rule in southwest Europe would be launched. It would therefore seem that exclusivity of application of this with respect to Imazighen speakers by Europeans has its roots in Moorish-controlled southwest Europe, from wherein the alternative generic Arab geographical designation for the Maghreb diffused into European vocabulary. So, the term initially used as a generic geopolitical reference to people in coastal northwest Africa, the Africans then — in the Medieval era — best known to Europeans and were in relatively more regular contact with them, would evolve into a linguistic reference, which would tie coastal northwest Africans with other groups who spoke closely related languages.
As far as primary text attestations are concerned, Arabic-sources have been reliable; for example Ibn Khaldun, likely an Arabized Amazighan writer in Moorish-ruled southwest European era, born in Tunisia, wrote an auto-biography Ta’reef in Egypt, as part of his work in what he calls, Kitab al-’Ibar wa-Diwan al-Mubtada’ wa-l-Khabar fi Ayyam al-’Arab wal-’Ajam wal-Barbar wa man ‘asarahum min dhawi as-Sultan al-Akbar [courtesy of cis-ca.org]
We now revisit several interesting explanations of how the term "Berber" as a generic reference to Amazighan speakers came about...
From a "Non-Governmental Organization For the defense of the rights of the Amazigh" called ‘Tamazigha’, we are told:
North Africa, an Amazigh land
All the historians of North Africa attest that the country has been populated by the Amazighs (Berbers) since very ancient times. Ibn Khaldoun in his Histoire des Berbères, wrote concerning the country which is usually referred to as the Maghreb and which we call Tamazgha or country of Imazighen (= plural of Amazigh):
«Since ancient times, this race inhabited the Maghreb of which it populated plains, mountains, shores, cities and countryside (Ibn Khaldoun, Histoire des Berbères, Paris, Geuthner, 1999, p. 167).»
And relating to Tamazight, the language of the Amazighs:
«Their language is a foreign idiom, different from all idioms: the very reason the name Berber was given to them (Ibn Khaldoun, 1999, opus quoted p.168). »
Finally regarding the religions practiced in North Africa:
«Among them there were [tribes] which practiced the Jewish religion; others practiced the Christian one, and others pagan ones, and among the latter were sun, moon and idol worshipers. Having at their head kings and leaders, they carried out against the Muslims several very famous wars (Ibn Khaldoun, 1999, opus quoted, p. 177).»
Closer to us, in 1931, the anti-colonialist historian Charles-André Julien observed that:
«Today, it is generally unknown to the majority that Morocco, Algeria and Tunisia are populated by Berbers. These are boldly referred to as Arabs, all the while the natives often called themselves Amazigh (Tamazight for the feminine and Imazighen for the plural) which literally means "free people", or sometimes "noble people" and was used by several tribes as far back as before the Roman occupation. (C.-A. Julien, Histoire de l'Afrique du Nord, Paris, Payot, 1931, p. 2).»
Source: ‘Tamazigha’, A Non Governmental Organization For the defense of the rights of the Amazigh, in submission to the ‘Committee for the Elimination of Racial Discrimination (CERD)’ in 2003.
Explanation given in a Kabyle dedicated site by an author going by the name of D. Messaoudi:
For some people, the origin of the word “Berber” would be Greek; their argument rely on the fact that the Greeks called people who spoke a language other than Greek “the Barbarians”. For the Arabs, the above word would be borrowed from Arabic, since in this language there is the verb “Barbara” (to roar) and “Al-barbarah” (“roar” and by extension, incomprehensible language – the equivalent of “baragouin”, meaning gibberish, the name given to the Breton language by the French).
But, in my view, these hypotheses rely on no logic, because in that period, the Berbers were not the only ones with whom the Romans or the Arabs had contacts. Why therefore other people as the Copts, the Kurds, the Sudanese, the Iranians, the Basques, etc, who spoke languages completely different from Latin and Arabic, had not been called “barbarians / Berbers”?
This incites us to search the origin of the above-mentioned appellation elsewhere, and more precisely in Berber language itself.
Our research in different Amazigh dialects led to the discovery of a group of terms and expressions with which we can associate the term “Berber”:
* Iber-iber: nomad in Touareg
* Sberber: be covered with clouds, when speaking about the sky in Kabyle, or to protect somebody or something by covering it with one’s body.
* Sbur: to cover one’s head in Kabyle
* Ibeṛbaṛen: a village located in Mcheddala, Bouira
* Tizi-n-Beṛbeṛ: another village in Kabylia.
* bbeṛbeṛ: very wet, in Kabyle.
My first assumption is that the term “Berber” would be a distortion or perhaps an evolved form of the word attested in Touareg, i.e. “Iberiber”. We know that the Berbers were called “Imazighen”, but maybe the appellation “iberiber”, which became then “Berber”, indicated only a particular grouping of Berbers, as the Touareg which were always big nomads. It would be then the Northern Berbers that would have created this nickname to indicate the Saharan, and the foreigners generalized it then to all Berbers.
My second assumption is that the term “Berber” would have a lexical relation with the words “sbur” and “Sberber”, which are both created on the basis of the same root: “BR”. In fact, if we refer to the dress habits of the North Africans, we will realize that the Berbers, since immemorial time, prefer broad clothings which cover them completely: Kabyle abernus, Shleuh tajellabit, Targui tagelmust, etc., are some examples. Even the Berber women wear long tiqendiar and timhermin or else asburru to protect their heads. It would be therefore the reason for which the Berbers were called, besides Imazighen, “Iberbaren”, which became then “Berber” in foreign languages.
Last but not least, explanation given by Richard L. Smith of the Ferrum College:
Moving beyond race, language—one of the defining characteristics in the modern concept of ethnicity—is rarely mentioned by classical or Arab authors except to note that their subjects spoke some form of gibberish. This began with Herodotus's offhand remark about the Ethiopian troglodytes: "The language they speak is completely different from any other language, and sounds like bats squeaking,"43 and continues through the sixth-century poet Corippus, who, in referring to Berber tribes, notes that their "barbaric languages bark in savage terms."44 Authors don't usually distinguish gibberishes from each other, nor do they state categorically that language was a major criterion for dividing the peoples of North Africa. Perhaps, however, we should assume this. Tacitus, who falls into the Sallust school in his discussion of North Africa but whose study of the German tribes is unsurpassed in classical ethnography, does refer to the importance of language in his review of peoples to the north of the Roman Empire.45 In other regions of Africa, including nearby West Africa, language has often served as an insignia of ethnicity.
Ibn Khaldun does distinguish the Berbers from the Arabs and other peoples by their language. According to him, the Arabs gave the Berbers their name, the origin of which meant something like gibberish: "The word berbera signifies, in Arabic, a jumble of unintelligible cries; from which one says in speaking of the lion that it berbère when it utters confused roars."46 *
[46 * - “ Histoire I:168. In another place, Ibn Khaldun offers an alternate if similar explanation. According to this, a Yemenite king named Afriqus b. Qays b. Sayfi, who lived at the time of Moses, often raided North Africa and killed many Berbers: "He gave them the name of Berbers when he heard their jargon and asked what that barbarah was." Ibn Khaldun, The Muqaddimah: An Introduction to History, trans. Franz Rosenthal, ed. N. J. Dawood (Princeton: Princeton University Press, 1967), p. 14.” - Richard L. Smith]
Richard goes onto say:
The unintelligible cries were the many local dialects Berber was divided into, by one modern count an astounding twelve hundred, although the situation at the time of Ibn Khaldun can only be guessed. And while Berber languages show relatively little internal differentiation in comparison to other branches of the Afro-Asiatic family, a detailed language map of Berber speakers would have the pattern of spilled vegetable soup.47* [47* - “For a background on the origin of Berber and its derivatives, see P. Behrens, "Wanderungsbewegungen und Sprache der früken saharanischen Viehzuchter," Sprache und Geschichte in Afrika 6 (1984–85): 135–216.” - Richard Smith]
In the past scholars have tried to get a handle on this so-called "language of dialects" by recognizing two or three dialect clusters—Zanatiya, Sanhaja, and sometimes Masmuda (which, when not recognized as separate, is joined with Sanhaja)—based on phonetic and morphological variations and location. Zanata, Sanhaja, and Masmuda are not terms used in the writings of the ancients but do appear, full-blown, with Arab authors who draw a clear distinction between them. The Masmuda were concentrated in the High Atlas and surrounding areas while in the rest of North Africa the Zanata (those who speak Zanatiya) were more common in the north and east and the Sanhaja in the south and west. The word "Sanhaja" means those who speak Zenaga (Znaga), the major dialect of the western desert. - Richard L. Smith
Then there are legends of ‘Berber’ ancestry, one of which as already very briefly mentioned, is traced back to a personality(s) by the name of “Berr”:
According to the Arabian genealogies, all Berbers are descended from two men: Berr ibn Branes and Berr ibn Botr.79 These two Berrs, although possessing the same name, were not related. From them are descended the great families of Berbers such as the Masmuda, Senhaja, and Zenata. Of all these great families the earliest to spread seems to have been the Masmuda or Ghomara branch. This was followed traditionally by the Senhaja, who today include such varied peoples as the Siwans on the borderlands of Egypt, the Tuareg of the Sahara, and the Braber of the Middle Atlas in Morocco. The third great expansion was that of the Zenata, who were known in Roman times in Cyrenaica, but who did not reach Algeria and Morocco until the Middle Ages. In the thirteenth century these Zenata finally invaded Spain, conquering Arabs and earlier Berbers. One may compare the expansions of the Berber families to those of Kelts, Germans, Slavs, etc. in Europe. - Courtesy of snpa.nordish.net
From the above, the present author can only imagine that the website is basing this on Arabic-speaking others cited in their reference, such as el Bekri and Ibn Khaldun
[More on these sort of legends, from Richard L Smiths analysis:
Unlike Herodotus, Ibn Abi Zar did recognize that his subjects lived in segmented societies,55 but the framework that he and other Arab writers imposed was genealogical rather than anthropological. Groups were defined as descendants of specific people, so exactly who the Berbers issued from was a much debated topic. The most popular starting place was the Holy Land, and first among the candidates was Goliath. After David killed Goliath, the Philistines, frequently confused with the Canaanites, were said to have left their homeland and migrated to North Africa, where they became the Berbers. Not everyone who wanted to keep the Berbers in the Old Testament was convinced of the Goliath connection. One of the most popular accounts goes back to Noah's children, Ham and Sem, among whom Satan was said to have sowed discord:
"Ham, having become black because of a curse pronounced against him by his father, fled to the Maghrib to hide in shame.... Berber, son of Kesloudjim [Casluhim], one of his descendants, left numerous posterity in the Maghrib."56* [56* - “Ibn Khaldun, [I]Histoire I, 177–178. The Ham connection appears in al-Ya'qubi, Corpus, p. 21. The Goliath connection comes a little later in Ibn Hawqal, Corpus, p. 48. Much earlier, in the first century C.E., the Jewish historian Flavius Josephus claimed that the Gaetulians descended from Havilah, the son of Cush, grandson of Ham.” - Richard L. Smith]
Understandably, many of the Berbers did not want their family trees rooted in Goliath, Ham, or other Biblical ne'er-do-wells. Muslims all over the Islamic world often tried to establish ancestral connections with the Prophet's homeland, the Arabian peninsula, and the Berbers were no exception. A popular theory among them was that they were long-lost Yemenites.
Ibn Khaldun chronicled all the stories he could find concerning Berber origins and demolished each in turn. He characterized one story that featured an invasion by an ancient Yemenite king as an "example of silly statements by historians."57* [57* - “Ibn Khaldun, Muqaddimah, p. 14.” - Richard L. Smith] Nor did he mince words concerning another popular theory:
"The opinion which represents them as the children of Goliath or Amalecites, and which has them emigrate from Syria, willy-nilly, is so untenable that it merits classification as a fable."
But Ibn Khaldun proved more effective as a critic than in offering a viable alternative. In the end he, too, traced the Berbers back to Genesis:
"Now the real fact, the fact which dispenses with all hypothesis, is this: the Berbers are the children of Canaan, the son of Ham, son of Noah." Down this line came Berr who had two sons, Baranis and Madghis al-Abtar. All Berber tribes descended from one or the other of these brothers and were classified as either Baranes or Botr.58* [58* - “Histoire I, 173–185. Also see R. W. Bulliet, "Botr et Beranes: Hypotheses sur l'histoire des Berbes," Annales Economies, Sociétés, Civilisations 36 (1981): 104–116.” - Richard L. Smith]
Continuing…
The Sanhaja were Baranes, and the Zanata were Botr. Further up the tree on the Baranes side were the Mulaththamun, who, according to al-Idrisi, descended from two eponyms, Sanhaj and Lamt. They lived in the Maghrib and were the sons of a mother named Tazakkat (Tizki), "the Lame." But Sanhaj and Lamt produced troublesome broods who tried to conquer the other Berbers and were finally driven into the desert, where they became nomads living in tents and surviving on the milk and meat of camels.59* [59* - “Corpus, p. 127.” - Richard L. Smith]
Arab-imposed, male-centered genealogy tells us more about contemporary Arab historiography than it does about Berber ethnography. This is not to dismiss the importance of perceived descent, which was matrilineal among most Berbers, particularly those of the desert. Etymological analysis seems to indicate that this tradition had its roots deep in the past: the words for brother and sister in proto-Berber, for example, are "son of my mother" and "daughter of my mother" respectively.60* [60* - “G. Marcy, "Les survivances juridiques de la parenté maternelle dans la coutume du Maroc Central," Actes du Congrès del'institut des Hautes Études Marocaines (Rabat, 1937), p. 33.” - Richard L. Smith]
The progenitor of Sanhaja and Tuareg alike was more often than not thought to be a woman, **Tin Hinan** of the Kel Ahaggar being the most well known. Whatever the real story behind the formation of a group like the Lamtuna, a large measure of their self-identity came from the commonly held belief that their eponymous ancestor was a woman named **Lamtuna**, and thus they were related "by blood" to each other.
More on legends, as cited by Richard:
One final aspect of Biblical-based genealogical history is worth noting: it did not start with the Arabs. About halfway through his work, Procopius suddenly announces that it is necessary to tell how the Maures came to Libya. He begins with Joshua and the Hebrews invading Palestine and thrashing everyone in sight. Several of the Canaanite tribes escaped by moving into Egypt, but finding it already crowded, continued on to Libya. Autochthonous people Procopius calls the "Children of the Soil" already lived there; Procopius does not say whether the Canaanites and the Children of the Soil fought or intermarried, only that the Canaanites became Maures.61* [67* - “.V. IV.10.12–24.” - Richard L. Smith] Procopius did not invent the tie between the peoples of North Africa and the Old Testament: for the Christians it goes back to St. Hippolyte in the early third century, but its origins can be seen even earlier in Flavius Josephus and Jewish tradition.62*[62* - “Yves Modéran, "Mythe et histoire aux derniers temps de l'Afrique antique: À propos d'un texte d'Ibn Khaldun," Review Historique CCCIII 2 (Avril–Juin 2001): 327–337.” - Richard Smith] However, Procopius's story does establish a link between portals two and three. It is one of the few strands of continuity, even though it concerns a perceived rather than a real relationship, which brings us back to our original problem: Why does there appear to be such a level of discontinuity?
Richard adds…
The almost complete break in nomenclature between the classical and Arab periods has to raise a few eyebrows. The names we use today come from the sources available to us. Some names originated with the people themselves, as in the case of the Mauri, at least according to Strabo.63* [63* - “Geography XVII.3.2. Later the transliteration became "Moors."“ - Richard L. Smith] Others came from neighbors, and some that ended up in Greek and Roman references were simply botched transliterations.64* [64* - “In the opening paragraph of his discussion on Libya, Pliny complains, "The names of its peoples and towns are absolutely unpronounceable except by the natives," N.H. V.1. See Gustave Mercier, "La langue libyenne et la toponymie antique de l'Afrique du Nord," Journal Asiatique 105 (1924): 189–320.” - Richard L. Smith] Authors confused names probably more often than we suspect. In his tour of the middle of the desert, Pliny notes that "the Blemmyae are reported to have no heads, their mouth and eyes being attached to their chests."65* [65* - “N.H. V.8.46.” - Richard L. Smith] Strabo and others describe a real people they referred to as the Blemmyae, who were nomads living below Egypt. Pliny's Blemmyae, minus the name, were borrowed from Herodotus's discussion of western Libya beyond the cultivated area: "There are enormous snakes there ... donkeys with horns, dog-headed creatures, headless creatures with eyes in their chests (at least, that is what the Libyans say), wild men and wild women...."66* [66* - }Geography VIII.7; 135; Histories IV.191.” - Richard L. Smith] Still others were made up by the Greeks and Romans. Diodorus Siculus provides some egregious examples in his tour of peoples living south of Egypt, which includes the Ichthyophagi (fish eaters), Chelonophagi (turtle eaters), Rhizophagi (root eaters), Hylophagi (wood eaters), Spermatophagi (seed eaters), Stnithophagi (bird eaters), and Acnclophagi (locust eaters). Just to show his scheme was not entirely based on diet, he threw in the Simi (flat nosed). It is unlikely that people actually thought of themselves as being Hylophagi or Simi.67* [67* - “.H. III.15.1; 21.1; 23.1; 24.1–2; 28.1–2; 29.1. On names the Greeks gave to the Libyans, see Olivier Masson, "Grecs et Libyens en Cyrenaique," Antiquités africaines 10 (1976): 49–62.” - Richard L. Smith]
Finally, a bio-anthropological trivia on Imazighen speaker...
Recaps from posts elsewhere: Language family association aside, the other thing that seems to tie in these groups, though perhaps relatively more loosely than the language connection, is reoccurring uniparental markers, that is suggestive of ultimate from descent a common recent ancestor in a proto-Amazighan speaking population; predominantly, from the paternal side, this is primarily the E-M81 marker, closely followed by various clusters of the E-M78 marker. On the maternal end, an interesting pattern is observed: a clinal distribution along geographic lines finds expression with recent European ancestry substantially represented along the the north coast regions, wherein its frequency thereof progressively fades as one proceeds further into the continent, through the Sahara to the Sahel, and ultimately into sub-Saharan Africa. By the same token, the more traditional/typical African markers are more considerably represented in Sahelian and Saharan Imazighen speakers. This maternal distribution pattern seems to parallel phenotypic trends like that of the clinal pattern invoked in skin tone variations; Imazighen (Berber) speakers sport noticeable degree of variation from tawny looking groups to noticeably dark hued groups, and intermediary grades in between the extremes of this phenotypic manifestation amongst Imazighen speakers; darker-toned Imazighen speakers seem to be predominant in the Saharan and Sahelian areas, while the coastal north regions is notably inhabited by considerable segments of populations, though not exclusively, of lighter-toned Imazighen and Arabized Imazighen speakers.
There have been attempts by some parties to tie contemporary Imazighen speakers with Upper Paleolithic bio-anthropological records of Northwest Africa, but genetic studies have shown that while contemporary Imazighen groups carry lineages that derive from Upper Paleolithic provenance, the coalescent ages from typical Amazigh markers postdate the Upper Paleolithic; reoccurring markers like M1 and U6 also derive from the Upper Paleolithic, but are not evenly distributed in considerable frequency in different Imazighen locales, if not even relatively modest compared to some territorially-specific markers of an Imazighen habitation in question. One study found something interesting in the coastal northwest African mtDNA landscape: that an Arabized population had less traditional African-specific markers than the "Imazighen"-identified counterpart in Tunisia; they attribute this interesting find to the "patchy nature" of DNA samplings undertaken on contemporary Imazighen populations...
Female gene pools of Berber and Arab neighboring communities in central Tunisia: microstructure of mtDNA variation in North Africa.
Feb 2005
Cherni L, Loueslati BY, Pereira L, Ennafaa H, Amorim A, El Gaaied AB.
Laboratory of Molecular Genetics, Immunology, and Biotechnology, Faculty of Sciences of Tunis, University of Tunis, El Manar II 1060, Tunisia.
North African populations are considered genetically closer to Eurasians than to sub-Saharans. However, they display a considerably high mtDNA heterogeneity among them, namely in the frequencies of the U6, East African, and sub-Saharan haplogroups. In this study, we describe and compare the female gene pools of two neighboring Tunisian populations, Kesra (Berber) and Zriba (non-Berber), which have contrasting historical backgrounds. Both populations presented lower diversity values than those observed for other North African populations, and they were the only populations not showing significant negative Fu's F(S) values. Kesra displayed a much higher proportion of typical sub-Saharan haplotypes (49%, including 4.2% of M1 haplogroup) than Zriba (8%). With respect to U6 sequences, frequencies were low (2% in Kesra and 8% in Zriba), and all belonged to the subhaplogroup U6a. An analysis of these data in the context of North Africa reveals that the emerging picture is complex, because Zriba would match the profile of a Berber Moroccan population, whereas Kesra, which shows twice the frequency of sub-Saharan lineages normally observed in northern coastal populations, would match a western Saharan population except for the low U6 frequency.
The North African patchy mtDNA landscape has no parallel in other regions of the world and increasing the number of sampled populations has not been accompanied by any substantial increase in our understanding of its phylogeography. Available data up to now rely on sampling small, scattered populations, although they are carefully characterized in terms of their ethnic, linguistic, and historical backgrounds. It is therefore doubtful that this picture truly represents the complex historical demography of the region rather than being just the result of the type of samplings performed so far.
Recalling from a previous posting elsewhere...
Arredi et al. had already stated that there is no substantial "Paleolithic" contribution in North African west Afrasan-speaking groups (otherwise known as "Berbers"), even though the lineages themselves derive from ancestral lineages of Paleolithic extraction; whereas the Bosch et al. study sees E3b lineages in Berbers as of Upper Paleolithic extraction. Arredi et al.'s study post-dates (2004) that of the Bosch et al. study (2001). Moreover, Bosch et al. idea of what constitutes "sub-Saharan" Africa is messed up, judging from their seeming incapacity to note that E3b-M35 is of sub-Saharan origin. Nonetheless, Wikipedia's claim about ancestry, supposedly in attribution to Bosch et al., is a far cry from what is actually presented in the Bosch et al. study; and so, in reading Wikipedia, caution has to be in order before one accepts the said info as credible. This is what was stated in Wikipedia:
The Y chromosome is passed exclusively through the paternal line. The composition is: 48% E3b2, 12% E3b* (xE3b2), 17% R1*(xR1a) and 23% F*(xH,I,J2,K) ((Arredi et al., 2004) [1]), according to the method used by Bosch et al. 2001. We may summarize the historical origins of the Kabyle Y-chromosome pool as follows: 60% Northwest African Upper Paleolithic (H36/E3b* and H38/E3b2), 23% Neolithic (F*(xH,I,J2,K)) and 17% historic European gene flow (R1*(xR1a)). :
This is what Bosch et al. actually said:
Group IX haplotypes (fig. 2gi) are found in the Middle East and are most prevalent in Europe (Underhill et al. 2000). Group IX also contains three local Iberian haplotypes: H101, H102, and H103. The latter, which is defined by derived mutation M167 (also known as "SRY-2627"), is equivalent to Y-chromosome haplogroup 22 as described by Hurles et al. (1999). These authors examined haplogroup 22 worldwide and showed that it has a geographical distribution almost restricted to northern Iberia. Moreover, on the basis of the dating of microsatellite and minisatellite diversity within haplogroup 22, they suggested that it arose in Iberia a few thousand years ago.
Group IX is found at a low frequency **(3%)** in NW Africa. In Iberia, 56% of the Y chromosomes carry H104, which is found across Europe, with increasing frequencies toward the west; its defining mutation, M173, may have been introduced by the first Upper Paleolithic colonizations of Europe (Semino et al. 2000). It may not have been the only lineage introduced into Iberia during the Upper Paleolithic, but it seems to have been the only one that has persisted in the extant Iberian gene pool. Of five H104 NW African chromosomes, one had an STR haplotype identical to that in an H104 Iberian chromosome, one was one mutation step away from Iberian H104 chromosomes, and the remaining three were two mutation steps away. Moreover, the mean repeat-size difference within 53 H104 Iberian STR haplotypes was 2.8 (range 011). The phylogenetic relations among H104 STR haplotypes is shown by a reduced median network (fig. 3c), in which the NW African chromosomes appear to be clearly embedded within the Iberian diversity. The time necessary to accumulate the STR-allele differences between NW African and Iberian H104 chromosomes was estimated at 2,100 ± 450 years. This close STR-haplotype similarity seems to indicate that H104 chromosomes found in NW Africa are a subset of the European gene pool and that they may have been introduced during **historic times.**
...meaning that European, more precisely Iberian male mediated gene flow, is much more recent in coastal North African west-Afrasan speakers, who are specifically the following:
H50 found in one Moroccan "Arab", and H104 found in one southern Moroccan "west-Afrasan/"Berber"" speaker, three Moroccan "Arab" speakers, and one north-central Moroccan "west-Afrasan" speaker.
Bosch et al. go onto conclude that:
So far, our analyses have allowed a clear dissection of almost all NW African and Iberian paternal lineages into several components with distinct historical origins. In this way, the historical origins of the NW African Y-chromosome pool may be summarized as follows: 75% NW African Upper Paleolithic (H35, H36, and H38), 13% Neolithic (H58 and H71), **4%** historic European gene flow (group IX, H50, H52), and 8% recent sub-Saharan African (H22 and H28). In contrast, the origins of the Iberian Y-chromosome pool may be summarized as follows: 5% recent NW African, 78% Upper Paleolithic and later local derivatives (group IX), and 10% Neolithic (H58, H71). No haplotype assumed to have originated in sub-Saharan Africa was found in our Iberian sample. It should be noted that H58 and H71 are not the only haplotypes present in the Middle East and that the Neolithic wave of advance could have brought other lineages to Iberia and NW Africa. However, the homogeneity of STR haplotypes within the most ancient biallelic haplotypes in each region indicates a single origin during the past, with possible minor reintroductions, with the Neolithic expansion, from the Middle East. Thus, Neolithic contributions may be slightly underestimated.
Whereby Hg E is denoted by the following:
H35=E3b-M78, H38=E3b-M81, and H36=E3b-M35; H22=E3a-M2, and H28=E1-M33
Hg J denoted by the following:
H58=J2*-M172
Hg F denoted by the following:
H71=F*-M89
Hg I denoted by the following:
H50=I1b2-M26, and H52=I*-M170.
Hg R denoted by the following:
H104=R*-M173
Thus note that the "4%" "historic", NOT pre-historic, European contribution quite likely from the Iberian peninsula, is a combination of I lineage (.6%), which was found in only one Moroccan "Arab" speaking individual AND R lineages (2.8%) found in five Moroccan individauls; three of them "Arab" speakers, and two of them "west-Afrasan" speakers.
To the ancient Greeks, the idea of strangers or foreigners wasn't limited to just northwest Africans; rather, it also covered 'strange' people in their own European backyard. Europeans to their north were generally seen as strange, if not uncultured, from the ancient Greek standpoint; their cultural manners were seen as peculiar and foreign to ancient Greeks, and so, they were referred to as 'barbary' (barbarians). Certainly, this term was applied to elements of northeast African populations in the Nile Valley as well; consider this piece on Achilles Tatius' thoughts for instance, with regards to late dynastic delta ancient Egyptians:
"All were huge, black-skinned [not the pure black of the Indians , more as you would imagine a half-caste Ethiopian], bare-headed, light of foot but broad of body. They were all speaking a barbarian language. " - Extracts presumably from Achilles Tatius: Leucippe and Clitophon
Tim Whitmarsh who translated the work and Helen Morales who gave a synopsis of the work, characterize the above description as a reference to some Nile Valley elements who were apparently seen as a nuisance to Greek interest, because we are told that the folks who were so-described [aka the "boukoli" bandits of the coastal areas of the Nile Valley], where one of those groups who were singled out by this sort of characterization, which amounts to an image of "unculturedness"; whereas...
All of the characters, weather they are natives of Phoenicia, Byzantium, Egypt, or Ephesus, speak in Greek, have Greek names, and demonstrate Greek paideis or culture. The exceptions are the boukoli, the bandits who ambush Leucippe and Clitophon. They are described as ''terrifying savages". - by Helen Morales (Introduction) and Tim Whitmarsh (Translator)
But Morales and Whitmarsh warn of any premature conclusions to be drawn from this "Greekifying" of things not actually Greek:
But to read Achille's description as a reflection of reality is grossly to underplay his rhetoric of demonization. The boukoli are caricatures , like other ethnocentric stereotypes of Egyptians elsewhere in the novel [eg at 4.4: ''Thus it is with an Egypt: in times of fear cowardice leads him to servility''] Geographic and description ethnographicreinforce this construction of the alterity of Egypt...
The description of the Egyptian clod of earth emphasizes its different and strangeness [3.13, and cf. the description of the Nile's duplicity at 4.12].
Despite Achillies' being a native of Alexandria, he perpetuates the ethnocentric stereotypes of Egypt familiar from many centuries' construction of Greek self-definition against the 'Barbarian'. - by Helen Morales (Introduction) and Tim Whitmarsh (Translator)
What does this say of the Greeks? The last bit about "Greek self-definition against the Barbarian" goes back to what the above authors reckon to be Greek arrogance of "reaffirmation of Hellenic superiority"; it serves to explain why the aforementioned point about "Greekifying" things not Greek where convenient or the opportunity to do so, was done so; to recap: All of the characters, weather they are natives of Phoenicia, Byzantium, Egypt, or Ephesus, speak in Greek, have Greek names, and demonstrate Greek paideis or culture. The exceptions are the boukoli, the bandits who ambush Leucippe and Clitophon. They are described as ''terrifying savages". - by Helen Morales (Introduction) and Tim Whitmarsh (Translator)
Perhaps might explain why Egyptian names were given Greek alternatives, like say Ausar for example, which is given the Greek alternative of "Osiris"; it might well tie into that theme of "reaffirmation of Hellenic superiority". All things great, even if not Greek, but has been brought into sphere of Greek interest, would have to be "Greekified" in some way or another. At any rate, the point here, was to show lack of restrictiveness to Greek application of "barbarian" to anyone or anything that was out of the norm from the Greek standpoint; it certainly wasn't restricted to coastal northwest African regions, and so, the idea of ancient Greeks being the source of this designation vis-a-vis northwest African Imazighen groups by sections of European scholars from the Medieval era onwards is a questionable one. The Roman application of such a term faired no differently.
Some sources suggest that the earliest north European examples of exclusive reference of "Berber" — that is, in that form as we know it, which is not exactly "Barbarian" as the Greek word itself, occur in French texts. The French word itself for anything strange or foreign is "étranger", and "babarian" — "barbare". Incidentally, Arabs in the Medieval era, during their endeavors in north Africa, exclusively called coastal northwest Africa, as opposed to the whole of coastal north Africa, as Bilad al Barbar ~ essentially meaning: Land of the Barbar/”Berber”. Could the Arab term have ultimately been attained from Indo-European infusion? Perhaps possible, but unless brought to immediate attention, no other north African region, save for the northwest region — which was also designated as Maghreb al Aksa by Arabs from the so-called Near East — has been so-designated as "Bilad al Barbar". Coincidentally, this is also the same region from where Arab and Moorish rule in southwest Europe would be launched. It would therefore seem that exclusivity of application of this with respect to Imazighen speakers by Europeans has its roots in Moorish-controlled southwest Europe, from wherein the alternative generic Arab geographical designation for the Maghreb diffused into European vocabulary. So, the term initially used as a generic geopolitical reference to people in coastal northwest Africa, the Africans then — in the Medieval era — best known to Europeans and were in relatively more regular contact with them, would evolve into a linguistic reference, which would tie coastal northwest Africans with other groups who spoke closely related languages.
As far as primary text attestations are concerned, Arabic-sources have been reliable; for example Ibn Khaldun, likely an Arabized Amazighan writer in Moorish-ruled southwest European era, born in Tunisia, wrote an auto-biography Ta’reef in Egypt, as part of his work in what he calls, Kitab al-’Ibar wa-Diwan al-Mubtada’ wa-l-Khabar fi Ayyam al-’Arab wal-’Ajam wal-Barbar wa man ‘asarahum min dhawi as-Sultan al-Akbar [courtesy of cis-ca.org]
We now revisit several interesting explanations of how the term "Berber" as a generic reference to Amazighan speakers came about...
From a "Non-Governmental Organization For the defense of the rights of the Amazigh" called ‘Tamazigha’, we are told:
North Africa, an Amazigh land
All the historians of North Africa attest that the country has been populated by the Amazighs (Berbers) since very ancient times. Ibn Khaldoun in his Histoire des Berbères, wrote concerning the country which is usually referred to as the Maghreb and which we call Tamazgha or country of Imazighen (= plural of Amazigh):
«Since ancient times, this race inhabited the Maghreb of which it populated plains, mountains, shores, cities and countryside (Ibn Khaldoun, Histoire des Berbères, Paris, Geuthner, 1999, p. 167).»
And relating to Tamazight, the language of the Amazighs:
«Their language is a foreign idiom, different from all idioms: the very reason the name Berber was given to them (Ibn Khaldoun, 1999, opus quoted p.168). »
Finally regarding the religions practiced in North Africa:
«Among them there were [tribes] which practiced the Jewish religion; others practiced the Christian one, and others pagan ones, and among the latter were sun, moon and idol worshipers. Having at their head kings and leaders, they carried out against the Muslims several very famous wars (Ibn Khaldoun, 1999, opus quoted, p. 177).»
Closer to us, in 1931, the anti-colonialist historian Charles-André Julien observed that:
«Today, it is generally unknown to the majority that Morocco, Algeria and Tunisia are populated by Berbers. These are boldly referred to as Arabs, all the while the natives often called themselves Amazigh (Tamazight for the feminine and Imazighen for the plural) which literally means "free people", or sometimes "noble people" and was used by several tribes as far back as before the Roman occupation. (C.-A. Julien, Histoire de l'Afrique du Nord, Paris, Payot, 1931, p. 2).»
Source: ‘Tamazigha’, A Non Governmental Organization For the defense of the rights of the Amazigh, in submission to the ‘Committee for the Elimination of Racial Discrimination (CERD)’ in 2003.
Explanation given in a Kabyle dedicated site by an author going by the name of D. Messaoudi:
For some people, the origin of the word “Berber” would be Greek; their argument rely on the fact that the Greeks called people who spoke a language other than Greek “the Barbarians”. For the Arabs, the above word would be borrowed from Arabic, since in this language there is the verb “Barbara” (to roar) and “Al-barbarah” (“roar” and by extension, incomprehensible language – the equivalent of “baragouin”, meaning gibberish, the name given to the Breton language by the French).
But, in my view, these hypotheses rely on no logic, because in that period, the Berbers were not the only ones with whom the Romans or the Arabs had contacts. Why therefore other people as the Copts, the Kurds, the Sudanese, the Iranians, the Basques, etc, who spoke languages completely different from Latin and Arabic, had not been called “barbarians / Berbers”?
This incites us to search the origin of the above-mentioned appellation elsewhere, and more precisely in Berber language itself.
Our research in different Amazigh dialects led to the discovery of a group of terms and expressions with which we can associate the term “Berber”:
* Iber-iber: nomad in Touareg
* Sberber: be covered with clouds, when speaking about the sky in Kabyle, or to protect somebody or something by covering it with one’s body.
* Sbur: to cover one’s head in Kabyle
* Ibeṛbaṛen: a village located in Mcheddala, Bouira
* Tizi-n-Beṛbeṛ: another village in Kabylia.
* bbeṛbeṛ: very wet, in Kabyle.
My first assumption is that the term “Berber” would be a distortion or perhaps an evolved form of the word attested in Touareg, i.e. “Iberiber”. We know that the Berbers were called “Imazighen”, but maybe the appellation “iberiber”, which became then “Berber”, indicated only a particular grouping of Berbers, as the Touareg which were always big nomads. It would be then the Northern Berbers that would have created this nickname to indicate the Saharan, and the foreigners generalized it then to all Berbers.
My second assumption is that the term “Berber” would have a lexical relation with the words “sbur” and “Sberber”, which are both created on the basis of the same root: “BR”. In fact, if we refer to the dress habits of the North Africans, we will realize that the Berbers, since immemorial time, prefer broad clothings which cover them completely: Kabyle abernus, Shleuh tajellabit, Targui tagelmust, etc., are some examples. Even the Berber women wear long tiqendiar and timhermin or else asburru to protect their heads. It would be therefore the reason for which the Berbers were called, besides Imazighen, “Iberbaren”, which became then “Berber” in foreign languages.
Last but not least, explanation given by Richard L. Smith of the Ferrum College:
Moving beyond race, language—one of the defining characteristics in the modern concept of ethnicity—is rarely mentioned by classical or Arab authors except to note that their subjects spoke some form of gibberish. This began with Herodotus's offhand remark about the Ethiopian troglodytes: "The language they speak is completely different from any other language, and sounds like bats squeaking,"43 and continues through the sixth-century poet Corippus, who, in referring to Berber tribes, notes that their "barbaric languages bark in savage terms."44 Authors don't usually distinguish gibberishes from each other, nor do they state categorically that language was a major criterion for dividing the peoples of North Africa. Perhaps, however, we should assume this. Tacitus, who falls into the Sallust school in his discussion of North Africa but whose study of the German tribes is unsurpassed in classical ethnography, does refer to the importance of language in his review of peoples to the north of the Roman Empire.45 In other regions of Africa, including nearby West Africa, language has often served as an insignia of ethnicity.
Ibn Khaldun does distinguish the Berbers from the Arabs and other peoples by their language. According to him, the Arabs gave the Berbers their name, the origin of which meant something like gibberish: "The word berbera signifies, in Arabic, a jumble of unintelligible cries; from which one says in speaking of the lion that it berbère when it utters confused roars."46 *
[46 * - “ Histoire I:168. In another place, Ibn Khaldun offers an alternate if similar explanation. According to this, a Yemenite king named Afriqus b. Qays b. Sayfi, who lived at the time of Moses, often raided North Africa and killed many Berbers: "He gave them the name of Berbers when he heard their jargon and asked what that barbarah was." Ibn Khaldun, The Muqaddimah: An Introduction to History, trans. Franz Rosenthal, ed. N. J. Dawood (Princeton: Princeton University Press, 1967), p. 14.” - Richard L. Smith]
Richard goes onto say:
The unintelligible cries were the many local dialects Berber was divided into, by one modern count an astounding twelve hundred, although the situation at the time of Ibn Khaldun can only be guessed. And while Berber languages show relatively little internal differentiation in comparison to other branches of the Afro-Asiatic family, a detailed language map of Berber speakers would have the pattern of spilled vegetable soup.47* [47* - “For a background on the origin of Berber and its derivatives, see P. Behrens, "Wanderungsbewegungen und Sprache der früken saharanischen Viehzuchter," Sprache und Geschichte in Afrika 6 (1984–85): 135–216.” - Richard Smith]
In the past scholars have tried to get a handle on this so-called "language of dialects" by recognizing two or three dialect clusters—Zanatiya, Sanhaja, and sometimes Masmuda (which, when not recognized as separate, is joined with Sanhaja)—based on phonetic and morphological variations and location. Zanata, Sanhaja, and Masmuda are not terms used in the writings of the ancients but do appear, full-blown, with Arab authors who draw a clear distinction between them. The Masmuda were concentrated in the High Atlas and surrounding areas while in the rest of North Africa the Zanata (those who speak Zanatiya) were more common in the north and east and the Sanhaja in the south and west. The word "Sanhaja" means those who speak Zenaga (Znaga), the major dialect of the western desert. - Richard L. Smith
Then there are legends of ‘Berber’ ancestry, one of which as already very briefly mentioned, is traced back to a personality(s) by the name of “Berr”:
According to the Arabian genealogies, all Berbers are descended from two men: Berr ibn Branes and Berr ibn Botr.79 These two Berrs, although possessing the same name, were not related. From them are descended the great families of Berbers such as the Masmuda, Senhaja, and Zenata. Of all these great families the earliest to spread seems to have been the Masmuda or Ghomara branch. This was followed traditionally by the Senhaja, who today include such varied peoples as the Siwans on the borderlands of Egypt, the Tuareg of the Sahara, and the Braber of the Middle Atlas in Morocco. The third great expansion was that of the Zenata, who were known in Roman times in Cyrenaica, but who did not reach Algeria and Morocco until the Middle Ages. In the thirteenth century these Zenata finally invaded Spain, conquering Arabs and earlier Berbers. One may compare the expansions of the Berber families to those of Kelts, Germans, Slavs, etc. in Europe. - Courtesy of snpa.nordish.net
From the above, the present author can only imagine that the website is basing this on Arabic-speaking others cited in their reference, such as el Bekri and Ibn Khaldun
[More on these sort of legends, from Richard L Smiths analysis:
Unlike Herodotus, Ibn Abi Zar did recognize that his subjects lived in segmented societies,55 but the framework that he and other Arab writers imposed was genealogical rather than anthropological. Groups were defined as descendants of specific people, so exactly who the Berbers issued from was a much debated topic. The most popular starting place was the Holy Land, and first among the candidates was Goliath. After David killed Goliath, the Philistines, frequently confused with the Canaanites, were said to have left their homeland and migrated to North Africa, where they became the Berbers. Not everyone who wanted to keep the Berbers in the Old Testament was convinced of the Goliath connection. One of the most popular accounts goes back to Noah's children, Ham and Sem, among whom Satan was said to have sowed discord:
"Ham, having become black because of a curse pronounced against him by his father, fled to the Maghrib to hide in shame.... Berber, son of Kesloudjim [Casluhim], one of his descendants, left numerous posterity in the Maghrib."56* [56* - “Ibn Khaldun, [I]Histoire I, 177–178. The Ham connection appears in al-Ya'qubi, Corpus, p. 21. The Goliath connection comes a little later in Ibn Hawqal, Corpus, p. 48. Much earlier, in the first century C.E., the Jewish historian Flavius Josephus claimed that the Gaetulians descended from Havilah, the son of Cush, grandson of Ham.” - Richard L. Smith]
Understandably, many of the Berbers did not want their family trees rooted in Goliath, Ham, or other Biblical ne'er-do-wells. Muslims all over the Islamic world often tried to establish ancestral connections with the Prophet's homeland, the Arabian peninsula, and the Berbers were no exception. A popular theory among them was that they were long-lost Yemenites.
Ibn Khaldun chronicled all the stories he could find concerning Berber origins and demolished each in turn. He characterized one story that featured an invasion by an ancient Yemenite king as an "example of silly statements by historians."57* [57* - “Ibn Khaldun, Muqaddimah, p. 14.” - Richard L. Smith] Nor did he mince words concerning another popular theory:
"The opinion which represents them as the children of Goliath or Amalecites, and which has them emigrate from Syria, willy-nilly, is so untenable that it merits classification as a fable."
But Ibn Khaldun proved more effective as a critic than in offering a viable alternative. In the end he, too, traced the Berbers back to Genesis:
"Now the real fact, the fact which dispenses with all hypothesis, is this: the Berbers are the children of Canaan, the son of Ham, son of Noah." Down this line came Berr who had two sons, Baranis and Madghis al-Abtar. All Berber tribes descended from one or the other of these brothers and were classified as either Baranes or Botr.58* [58* - “Histoire I, 173–185. Also see R. W. Bulliet, "Botr et Beranes: Hypotheses sur l'histoire des Berbes," Annales Economies, Sociétés, Civilisations 36 (1981): 104–116.” - Richard L. Smith]
Continuing…
The Sanhaja were Baranes, and the Zanata were Botr. Further up the tree on the Baranes side were the Mulaththamun, who, according to al-Idrisi, descended from two eponyms, Sanhaj and Lamt. They lived in the Maghrib and were the sons of a mother named Tazakkat (Tizki), "the Lame." But Sanhaj and Lamt produced troublesome broods who tried to conquer the other Berbers and were finally driven into the desert, where they became nomads living in tents and surviving on the milk and meat of camels.59* [59* - “Corpus, p. 127.” - Richard L. Smith]
Arab-imposed, male-centered genealogy tells us more about contemporary Arab historiography than it does about Berber ethnography. This is not to dismiss the importance of perceived descent, which was matrilineal among most Berbers, particularly those of the desert. Etymological analysis seems to indicate that this tradition had its roots deep in the past: the words for brother and sister in proto-Berber, for example, are "son of my mother" and "daughter of my mother" respectively.60* [60* - “G. Marcy, "Les survivances juridiques de la parenté maternelle dans la coutume du Maroc Central," Actes du Congrès del'institut des Hautes Études Marocaines (Rabat, 1937), p. 33.” - Richard L. Smith]
The progenitor of Sanhaja and Tuareg alike was more often than not thought to be a woman, **Tin Hinan** of the Kel Ahaggar being the most well known. Whatever the real story behind the formation of a group like the Lamtuna, a large measure of their self-identity came from the commonly held belief that their eponymous ancestor was a woman named **Lamtuna**, and thus they were related "by blood" to each other.
More on legends, as cited by Richard:
One final aspect of Biblical-based genealogical history is worth noting: it did not start with the Arabs. About halfway through his work, Procopius suddenly announces that it is necessary to tell how the Maures came to Libya. He begins with Joshua and the Hebrews invading Palestine and thrashing everyone in sight. Several of the Canaanite tribes escaped by moving into Egypt, but finding it already crowded, continued on to Libya. Autochthonous people Procopius calls the "Children of the Soil" already lived there; Procopius does not say whether the Canaanites and the Children of the Soil fought or intermarried, only that the Canaanites became Maures.61* [67* - “.V. IV.10.12–24.” - Richard L. Smith] Procopius did not invent the tie between the peoples of North Africa and the Old Testament: for the Christians it goes back to St. Hippolyte in the early third century, but its origins can be seen even earlier in Flavius Josephus and Jewish tradition.62*[62* - “Yves Modéran, "Mythe et histoire aux derniers temps de l'Afrique antique: À propos d'un texte d'Ibn Khaldun," Review Historique CCCIII 2 (Avril–Juin 2001): 327–337.” - Richard Smith] However, Procopius's story does establish a link between portals two and three. It is one of the few strands of continuity, even though it concerns a perceived rather than a real relationship, which brings us back to our original problem: Why does there appear to be such a level of discontinuity?
Richard adds…
The almost complete break in nomenclature between the classical and Arab periods has to raise a few eyebrows. The names we use today come from the sources available to us. Some names originated with the people themselves, as in the case of the Mauri, at least according to Strabo.63* [63* - “Geography XVII.3.2. Later the transliteration became "Moors."“ - Richard L. Smith] Others came from neighbors, and some that ended up in Greek and Roman references were simply botched transliterations.64* [64* - “In the opening paragraph of his discussion on Libya, Pliny complains, "The names of its peoples and towns are absolutely unpronounceable except by the natives," N.H. V.1. See Gustave Mercier, "La langue libyenne et la toponymie antique de l'Afrique du Nord," Journal Asiatique 105 (1924): 189–320.” - Richard L. Smith] Authors confused names probably more often than we suspect. In his tour of the middle of the desert, Pliny notes that "the Blemmyae are reported to have no heads, their mouth and eyes being attached to their chests."65* [65* - “N.H. V.8.46.” - Richard L. Smith] Strabo and others describe a real people they referred to as the Blemmyae, who were nomads living below Egypt. Pliny's Blemmyae, minus the name, were borrowed from Herodotus's discussion of western Libya beyond the cultivated area: "There are enormous snakes there ... donkeys with horns, dog-headed creatures, headless creatures with eyes in their chests (at least, that is what the Libyans say), wild men and wild women...."66* [66* - }Geography VIII.7; 135; Histories IV.191.” - Richard L. Smith] Still others were made up by the Greeks and Romans. Diodorus Siculus provides some egregious examples in his tour of peoples living south of Egypt, which includes the Ichthyophagi (fish eaters), Chelonophagi (turtle eaters), Rhizophagi (root eaters), Hylophagi (wood eaters), Spermatophagi (seed eaters), Stnithophagi (bird eaters), and Acnclophagi (locust eaters). Just to show his scheme was not entirely based on diet, he threw in the Simi (flat nosed). It is unlikely that people actually thought of themselves as being Hylophagi or Simi.67* [67* - “.H. III.15.1; 21.1; 23.1; 24.1–2; 28.1–2; 29.1. On names the Greeks gave to the Libyans, see Olivier Masson, "Grecs et Libyens en Cyrenaique," Antiquités africaines 10 (1976): 49–62.” - Richard L. Smith]
Finally, a bio-anthropological trivia on Imazighen speaker...
Recaps from posts elsewhere: Language family association aside, the other thing that seems to tie in these groups, though perhaps relatively more loosely than the language connection, is reoccurring uniparental markers, that is suggestive of ultimate from descent a common recent ancestor in a proto-Amazighan speaking population; predominantly, from the paternal side, this is primarily the E-M81 marker, closely followed by various clusters of the E-M78 marker. On the maternal end, an interesting pattern is observed: a clinal distribution along geographic lines finds expression with recent European ancestry substantially represented along the the north coast regions, wherein its frequency thereof progressively fades as one proceeds further into the continent, through the Sahara to the Sahel, and ultimately into sub-Saharan Africa. By the same token, the more traditional/typical African markers are more considerably represented in Sahelian and Saharan Imazighen speakers. This maternal distribution pattern seems to parallel phenotypic trends like that of the clinal pattern invoked in skin tone variations; Imazighen (Berber) speakers sport noticeable degree of variation from tawny looking groups to noticeably dark hued groups, and intermediary grades in between the extremes of this phenotypic manifestation amongst Imazighen speakers; darker-toned Imazighen speakers seem to be predominant in the Saharan and Sahelian areas, while the coastal north regions is notably inhabited by considerable segments of populations, though not exclusively, of lighter-toned Imazighen and Arabized Imazighen speakers.
There have been attempts by some parties to tie contemporary Imazighen speakers with Upper Paleolithic bio-anthropological records of Northwest Africa, but genetic studies have shown that while contemporary Imazighen groups carry lineages that derive from Upper Paleolithic provenance, the coalescent ages from typical Amazigh markers postdate the Upper Paleolithic; reoccurring markers like M1 and U6 also derive from the Upper Paleolithic, but are not evenly distributed in considerable frequency in different Imazighen locales, if not even relatively modest compared to some territorially-specific markers of an Imazighen habitation in question. One study found something interesting in the coastal northwest African mtDNA landscape: that an Arabized population had less traditional African-specific markers than the "Imazighen"-identified counterpart in Tunisia; they attribute this interesting find to the "patchy nature" of DNA samplings undertaken on contemporary Imazighen populations...
Female gene pools of Berber and Arab neighboring communities in central Tunisia: microstructure of mtDNA variation in North Africa.
Feb 2005
Cherni L, Loueslati BY, Pereira L, Ennafaa H, Amorim A, El Gaaied AB.
Laboratory of Molecular Genetics, Immunology, and Biotechnology, Faculty of Sciences of Tunis, University of Tunis, El Manar II 1060, Tunisia.
North African populations are considered genetically closer to Eurasians than to sub-Saharans. However, they display a considerably high mtDNA heterogeneity among them, namely in the frequencies of the U6, East African, and sub-Saharan haplogroups. In this study, we describe and compare the female gene pools of two neighboring Tunisian populations, Kesra (Berber) and Zriba (non-Berber), which have contrasting historical backgrounds. Both populations presented lower diversity values than those observed for other North African populations, and they were the only populations not showing significant negative Fu's F(S) values. Kesra displayed a much higher proportion of typical sub-Saharan haplotypes (49%, including 4.2% of M1 haplogroup) than Zriba (8%). With respect to U6 sequences, frequencies were low (2% in Kesra and 8% in Zriba), and all belonged to the subhaplogroup U6a. An analysis of these data in the context of North Africa reveals that the emerging picture is complex, because Zriba would match the profile of a Berber Moroccan population, whereas Kesra, which shows twice the frequency of sub-Saharan lineages normally observed in northern coastal populations, would match a western Saharan population except for the low U6 frequency.
The North African patchy mtDNA landscape has no parallel in other regions of the world and increasing the number of sampled populations has not been accompanied by any substantial increase in our understanding of its phylogeography. Available data up to now rely on sampling small, scattered populations, although they are carefully characterized in terms of their ethnic, linguistic, and historical backgrounds. It is therefore doubtful that this picture truly represents the complex historical demography of the region rather than being just the result of the type of samplings performed so far.
Recalling from a previous posting elsewhere...
Arredi et al. had already stated that there is no substantial "Paleolithic" contribution in North African west Afrasan-speaking groups (otherwise known as "Berbers"), even though the lineages themselves derive from ancestral lineages of Paleolithic extraction; whereas the Bosch et al. study sees E3b lineages in Berbers as of Upper Paleolithic extraction. Arredi et al.'s study post-dates (2004) that of the Bosch et al. study (2001). Moreover, Bosch et al. idea of what constitutes "sub-Saharan" Africa is messed up, judging from their seeming incapacity to note that E3b-M35 is of sub-Saharan origin. Nonetheless, Wikipedia's claim about ancestry, supposedly in attribution to Bosch et al., is a far cry from what is actually presented in the Bosch et al. study; and so, in reading Wikipedia, caution has to be in order before one accepts the said info as credible. This is what was stated in Wikipedia:
The Y chromosome is passed exclusively through the paternal line. The composition is: 48% E3b2, 12% E3b* (xE3b2), 17% R1*(xR1a) and 23% F*(xH,I,J2,K) ((Arredi et al., 2004) [1]), according to the method used by Bosch et al. 2001. We may summarize the historical origins of the Kabyle Y-chromosome pool as follows: 60% Northwest African Upper Paleolithic (H36/E3b* and H38/E3b2), 23% Neolithic (F*(xH,I,J2,K)) and 17% historic European gene flow (R1*(xR1a)). :
This is what Bosch et al. actually said:
Group IX haplotypes (fig. 2gi) are found in the Middle East and are most prevalent in Europe (Underhill et al. 2000). Group IX also contains three local Iberian haplotypes: H101, H102, and H103. The latter, which is defined by derived mutation M167 (also known as "SRY-2627"), is equivalent to Y-chromosome haplogroup 22 as described by Hurles et al. (1999). These authors examined haplogroup 22 worldwide and showed that it has a geographical distribution almost restricted to northern Iberia. Moreover, on the basis of the dating of microsatellite and minisatellite diversity within haplogroup 22, they suggested that it arose in Iberia a few thousand years ago.
Group IX is found at a low frequency **(3%)** in NW Africa. In Iberia, 56% of the Y chromosomes carry H104, which is found across Europe, with increasing frequencies toward the west; its defining mutation, M173, may have been introduced by the first Upper Paleolithic colonizations of Europe (Semino et al. 2000). It may not have been the only lineage introduced into Iberia during the Upper Paleolithic, but it seems to have been the only one that has persisted in the extant Iberian gene pool. Of five H104 NW African chromosomes, one had an STR haplotype identical to that in an H104 Iberian chromosome, one was one mutation step away from Iberian H104 chromosomes, and the remaining three were two mutation steps away. Moreover, the mean repeat-size difference within 53 H104 Iberian STR haplotypes was 2.8 (range 011). The phylogenetic relations among H104 STR haplotypes is shown by a reduced median network (fig. 3c), in which the NW African chromosomes appear to be clearly embedded within the Iberian diversity. The time necessary to accumulate the STR-allele differences between NW African and Iberian H104 chromosomes was estimated at 2,100 ± 450 years. This close STR-haplotype similarity seems to indicate that H104 chromosomes found in NW Africa are a subset of the European gene pool and that they may have been introduced during **historic times.**
...meaning that European, more precisely Iberian male mediated gene flow, is much more recent in coastal North African west-Afrasan speakers, who are specifically the following:
H50 found in one Moroccan "Arab", and H104 found in one southern Moroccan "west-Afrasan/"Berber"" speaker, three Moroccan "Arab" speakers, and one north-central Moroccan "west-Afrasan" speaker.
Bosch et al. go onto conclude that:
So far, our analyses have allowed a clear dissection of almost all NW African and Iberian paternal lineages into several components with distinct historical origins. In this way, the historical origins of the NW African Y-chromosome pool may be summarized as follows: 75% NW African Upper Paleolithic (H35, H36, and H38), 13% Neolithic (H58 and H71), **4%** historic European gene flow (group IX, H50, H52), and 8% recent sub-Saharan African (H22 and H28). In contrast, the origins of the Iberian Y-chromosome pool may be summarized as follows: 5% recent NW African, 78% Upper Paleolithic and later local derivatives (group IX), and 10% Neolithic (H58, H71). No haplotype assumed to have originated in sub-Saharan Africa was found in our Iberian sample. It should be noted that H58 and H71 are not the only haplotypes present in the Middle East and that the Neolithic wave of advance could have brought other lineages to Iberia and NW Africa. However, the homogeneity of STR haplotypes within the most ancient biallelic haplotypes in each region indicates a single origin during the past, with possible minor reintroductions, with the Neolithic expansion, from the Middle East. Thus, Neolithic contributions may be slightly underestimated.
Whereby Hg E is denoted by the following:
H35=E3b-M78, H38=E3b-M81, and H36=E3b-M35; H22=E3a-M2, and H28=E1-M33
Hg J denoted by the following:
H58=J2*-M172
Hg F denoted by the following:
H71=F*-M89
Hg I denoted by the following:
H50=I1b2-M26, and H52=I*-M170.
Hg R denoted by the following:
H104=R*-M173
Thus note that the "4%" "historic", NOT pre-historic, European contribution quite likely from the Iberian peninsula, is a combination of I lineage (.6%), which was found in only one Moroccan "Arab" speaking individual AND R lineages (2.8%) found in five Moroccan individauls; three of them "Arab" speakers, and two of them "west-Afrasan" speakers.