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.
Timeline indexing, as well as covering topics around mtDNA and Y-DNA segments, microsatellite sequences and other DNA loci, not sparing Linguistics.
Showing posts with label NRY. Show all posts
Showing posts with label NRY. Show all posts
Monday, September 15, 2008
Monday, January 28, 2008
R1*-M173 Chromosomes in Africa
R1*-M173 bearing chromosomes in Cameroon
Thus far, the highest frequencies of these R1 lineages devoid of any known downstream mutations that characterize other R1* sub-haplogroups, is in Cameroon, to be followed by that detected in Jordan. On average R1*-M173 distribution seems to be relatively more common in African samples, than those outside of it, with detections in Cameroon as already mentioned, Egypt, Sudan [*see below: Hassan et al. 2008] and Rwanda. Outside of Africa, besides the Jordanian samples, detection of relatively lower frequencies was only in the Omani sample. It is certainly plausible that the presence of R1* chromosomes in Africa are relics of very ancient back-migration, but not conclusive as of yet.
The points thus far argued for back-migration has generally been formed around the idea that R1 macrohaplogroup has relatively lower intra-macrohaplogroup diversity of downstream lineages in areas like Cameroon than those in Eurasia, and while M9 lineages are prevalent in Eurasia, no ancestral markers of these lineages have been uncovered in there to the present author's [of this blog] knowledge. What this fails to take into account, is that Cameroonian populations need not necessarily bear intra-macrohaplogroup diversity of R1, so as to be plausible direct descendants of the founder population for the undifferentiated R1* group. Why? Well, it is plausible that if the founder society was fairly small sized, with a section of this founder community migrating elsewhere, then the former may not necessarily have undergone considerable demic expansion relative to the latter offshoot (branch) which emigrated elsewhere—for some reason or another. The former would therefore experience relatively lower diversity due to smaller effective population size for a certain amount of time than the branch that would have undergone a relatively more rapid demic expansion from the onset. It is only after the small sized community undergoes considerable demic expansion subsequent to a period of relative bottleneck, that chances of greater lineage diversity arise. Indeed, the diversity of R1*-M173 chromosomes—lacking identifiable downstream mutations—in Cameroon suggest that the populations derive from a source population that underwent a relatively recent rapid demic expansion.
The present author has been informed that the R1*-M173 chromosomes in Cameroon appear to be one-step neighbors to those found in the Nile Valley. Perhaps, learning about the distance between Cameroonian R1* lineages and those detected in Omani and Jordanian samples would prove instructive, but at the least, it appears that the Nile Valley corridor played a role in the demic diffusion of R1*-M173. From Flores et al., the present author gets the sense that it is certainly plausible that R1*-M173 bearers diffused from Africa into the Levant via the Nile Valley corridor, likely sometime in the Upper Paleolithic. From Flores et al. we have:
Intrapopulation differentiation in Jordan
As Bedouin tribes had an important role in the colonization of southeast Jordan, it could be that the haplogroup composition of the Dead Sea reflected genetic affinities to them, but that is not the case. The most striking characteristic of the Dead Sea sample is the high prevalence of R1*-M173 lineages (40%), contrasting with the lack of them and of its derivatives R1b3-N269 in Bedouin from Nebel et al. (2001) and its low frequencies in Amman. It is worth mentioning that until now, similar frequencies for R1*-M173 have only been found in northern Cameroon (Cruciani et al. 2002). The possibility that the Dead Sea and Cameroon are isolated remnants of a past broad human expansion deserves future studies.
Interestingly, when the molecular heterogeneity of the G6PD locus was compared between the Amman and the Dead Sea samples, a lower number of different variants and a higher incidence of the African G6PD-A allele was detected in the latter (Karadsheh, personal communication). Another singularity of the Dead Sea is its high frequency (31%) of E3b3a-M34, a derivative of the E3b3-M123 that is only found in 7% Bedouins (Cruciani et al. 2004). Until now, the highest frequencies for this marker (23.5%) had been found in Ethiopians from Amhara (Cruciani et al. 2004). On the contrary, most Bedouin chromosomes (63%) belong to the haplogroup J1-M267 (Semino et al. 2004) compared with 9% in the Dead Sea. All these evidences point to the Dead Sea as an isolated region perhaps with past ties to sub-Saharan and eastern Africa.
Strong drift and/or founder effects might be responsible for its anomalous haplogroup frequencies.
This plausibility [of said northeastern Africa-to-Levantine passage] is suggested by the support provided by the fact that these chromosomes appear relatively more common in Africa, particularly in Cameroon, and other genetic indicators as that provided by the authors above, exemplified by the distribution and frequency pattern of the African-specific G6PD-A allele on the X-chromosomes of Jordanian samples in association with that of the distribution and frequency pattern of R1*-M173. This is what one would expect, due to drift and possibly, selective pressure, if the ancestors of said sampling candidates had first passed through an African "corridor" where relative prevalence of malaria might have jump-started a positive genetic drift to favor those X chromosomes bearing the said G6PD-A allele. Based on previous studies [e.g. Tishkoff et al. (2001)], the Afrian G6PD A- allele appears to have undergone its earliest major expansion around the terminal of the Upper Paleolithic or the beginning of the Holocene epoch; if so, this would be more consistent with the time frame for E-M123 or E-M34 dispersal. On the other hand, the G6PD A+ derivative has much greater TMRCA ages than the A- allele, within which the time frame for R1*-M173 dispersal can be invoked. As a matter of note, the A- variant has a much lower intra-allelic diversity than the A+ variant. In any case, each of these markers show clear post-OOA emigration connections between African groups and the Dead Sea community from which Flores et al.'s (2005) sample set came.
Two possibilities to deduce from R1*-M173 distribution pattern...
Possibility #1
— Originated in central Sahara or northeast Africa amongst a nomadic lifestyle oriented group and spread thereof to the Levant through the Sinai corridor, during the Upper Paleolithic.
— The remnants in Africa trekked down to Cameroonian region and the lower vestiges of West Africa as a place of refuge, with the coming of the Ogolian aridity [ca. between 23 ky ago and 18ky ago]. Sometime between 19ky ago and 15ky ago, some E-M35 bearing nomads would move into the Levant via northeast Africa, perhaps due to growing pressures of progressive Saharan aridity. This may explain R1*-M173 carriers in tandem with E-M34 carriers in places like the Dead Sea, whereas R1*-M173 is absent in sub-Saharan East Africa [but not in northeastern Africa] - the African Horn region - where E-M34 chromosomes are prevalent. It may also explain why the Dead Sea R1*-M173 bearing population also happens to standout from their high-frequency J1 carrying Levantine Bedouin brethren in sporting high prevalence of the African-specific G6PD-A locus on the X chromosome. The presence of both E-M34 and E-M78 derivatives in the so-called Near East make it clear that E-M35 chromosomes did not spill outside of the continent in a single demographic event or even time frame. On the other hand, E-M34 is absent in West and Central Africa where R1*-M173 chromosomes are most prevalent.
— Upon finding a refuge to escape intense aridified conditions of the Sahara, sections [meaning not all] of the previously largely nomadic R1*-M173 carriers began to settle in their new found refugia. The small communities of R1*-M173 would eventually expand, but they would have been overwhelmed by the faster expanding newly arrived PN2 carriers, especially with the receding of the Ogolian aridity. Those who retained their nomadic lifestyle, trekked back and forth the western[mainly] Sahel and the lower geographical vestiges of West Africa, where some of the settled brethren located themselves. These nomad traditionalists would adopt a pastoralist lifestyle [see: the theme centered on the *divergent* C-13.9kbT allele patterns in R1*-M173 carriers], which would modify their diet.
Although, largely tenuous at this point, there might be a link between the C-13.9kbT allele [has been linked to lactose tolerance promotion] and ancestry amongst a section of the groups bearing the ancestral R1*-M173 markers. This phenomenon of one segment of R1*-M173 bearers having the C-13.9kbT allele, while other segments of R1*-M173 bearers have little to none, has only been demonstrated in Africa, the continent where the R1*-M173 marker is so far the most common. Then again, as just another possibility, this phenomenon might be better related by some other line of ancestry or biohistory that portrays a different demographic history from that of the Y DNA marker.
Sticking point(s) for possibility #1:
The only or main one offered for this possibility from those publications which propose otherwise, is the relative greater diversity of the overall K-M9 family outside of Africa, as opposed to that located within continent, even though the presence of Hg K itself [particularly in East Africa] in the continent has been noted; however, even if one were to look at it from that angle, it doesn't necessarily negate a possible African origin for R1*-M173, as its supposed predecessor P-M45 — in particular, the elusive undifferentiated P-M45 — is just as rare in Asia.
Possibility #2
—Originated in the Sinai or the Levantine or northern regions of the Arabian desert, amongst a very small community nomads of that region. Those that trekked between North Africa and the so-called Near East through the Sinai corridor, would give rise to a subset that decided to stay put in North Africa and lead their nomadic lifestyle there. Others went even further north; they went as far as Europe, wherein they'd become ancestors of R1b bearers; on other hand, the demograhic shifts brought upon later by greater expanding groups, like say Hg J carriers, probably urged some remnants of R1*-M173 to spread eastward, central Asia, wherein they'd give rise to R1a carriers, sometime after the LGM or else after a good duration of the LGM had already gone by. The small group of R1*-M173 bearers who moved into Europe would likely have met relatively modest competition, due to smaller isolated groups in the region, as compared to elsewhere in Asia and in Africa.
—With the coming of the LGM, the R1 carriers in Europe would find refugia in southwestern Europe and certain regions in the so-called Near East. This would have coincided with the aridification of the Sahara, wherein R1* bearers there, as the present author has noted above, would have migrated southward, out of the region of the intense aridification of the Sahara. However, when the LGM came to a conclusion, the R1 carriers in Europe, who sought refuge in southern Europe and parts of the so-called Near East, would start repopulating the more northerly regions of Europe, and the subsequent expansion, especially with the advent of farming from the so-called Near East, would result in R1b-rich populations wherein the carriers of the downstream [R1b] carriers would overwhelm any remaining original R1b-predecessor R1* group. In other words, negative genetic drift essentially drifted out the original R1 carriers. Although R1b itself seems to have come to being before the LGM, its numbers likely became much greater after the LGM. As noted above, small group of R1 carriers who populated Europe, were likely fortunate enough to have not met the same competition from non-R1 bearing groups, as they might have been exposed to in Africa and the so-called Near East.
Sticking point(s) for possibility #2:
Naturally with possibility #2, one would have to explain away why the only one of the two places outside of Africa where the rare undifferentiated R1*-M173 marker is present, and where it has been the most substantial [after Africa], that this marker appears to be in a population that stands out in its low Hg J [ 9% J1 in the Dead Sea compared with 63% J1 (Semino et al. 2004) of their Bedouin neighbors , per reference by Flores et al. 2005], while it bears 31% E-M34 compared to the only 7% of Bedouin (Cruciani et al. 2004) [See: Flores et al.2005], and last but not least—it has a lower number of different G6PD locus variants and a higher incidence of the African G6PD-A allele (Karadsheh, personal communication) than the Bedouin, when the molecular heterogeneity of the G6PD locus was compared between the Amman and the Dead Sea samples [Flores et al. 2005]. And even Oman, wherein R1*-M173 markers had been located in low frequency, cannot be ruled out as a recipient of these chromosomes through gene flow from Africa, because it isn't too far from northeast Africa, wherein these R1* chromosomes appear, not to mention the fact that other African ancestry therein [like variant E-M35 lineages and E3a chromosomes] make it clear that Oman has definitely been a recipient of genetic introgression from Africa via multiple and distinct demographic events.
Neutralizers...
In either cases of possibility #1 and possibility #2, the established downstream R1 derivatives are generally relatively less frequent to absent in the regions that harbor R1* undifferentiated chromosomes figure prominently within the regional hg R1 distribution. Conversely, in the regions where the established downstream R1 chromosomes are prominent, R1* undifferentiated chromosomes are fairly rare or absent. This is simply testament to the possibility that in regions wherein the original R1 carriers [who were likely small to begin with, in terms of effective population size] appear to have expanded the most, the original R1* chromosomes were eventually drifted out by the more downstream hg R1 carriers.
One thing both possibility #1 and possibility #2 converge on, is this: R1*-M173 in Africa are very ancient, and did not come from populations characterizing downstream mutations, like say Europe.
It should be pointed out though, from the looks of data that readers are provided with, that Flores et al.'s (2005) sample were not specifically tested for either the M343 or the M420 nodes of the R haplogroup. In any case, the R1*-M173 chromosomes here would still serve as ancestral markers of chromosomes bearing either marker, since the next identified main downstream nodes respective to the said lineages were not identified in the Dead Sea-sample R1*-M173 bearing chromosomes—namely, P25 and SRY10831.2 respectively.
Research extracts that just lend credence to some of the themes expressed in the above...
In the mtDNA landscape, Richard et al. 2000 tell us:
"We conclude that (i) there has been substantial back-migration into the Near East, (ii) the majority of extant mtDNA lineages entered Europe in several waves during the Upper Palaeolithic, (iii) there was a founder effect or bottleneck associated with the Last Glacial Maximum, 20,000 years ago, from which derives the largest fraction of surviving lineages, and (iv) the immigrant Neolithic component is likely to comprise less than one-quarter of the mtDNA pool of modern Europeans."
Neolithic contribution...
"With respect to their Neolithic components, the regions fall into several groups. The southeastern, north-central, Alpine, northeastern, and northwestern regions of Europe have the highest components (15%–22%). The Mediterranean zone has a consistently lower (9%–12%) Neolithic component, suggesting that Neolithic colonization along the coast had a demographic impact less than that which resulted from the expansions in central Europe. Scandinavia has a similarly low value, and the Basque Country has the lowest value of all, only 7%..."
"The principal clusters involved seem to have been most of J, T1, and U3, with a possible H component. This would suggest that the early-Neolithic LBK expansions through central Europe did indeed include a substantial demic component, as has been proposed both by archaeologists and by geneticists."
Late Upper Paleolithic contribution...
"The LUP values are, by contrast, higher toward the west: the western Mediterranean, the Basque Country, and the northwestern, north-central, Scandinavian, and Alpine regions of Europe have 52%–59% LUP, with the central-Mediterranean region having a value of almost 50%..."
"The lineages involved include much of the most common haplogroup, H, as well as much of K, T, W, and X...haplogroup V, the sister cluster of H within HV, appears to have evolved within Europe, possibly in the southwest, and to have expanded with the LUP component (Torroni et al. 1998)..."
"It seems plausible, then, that many founders of haplogroup H—and, possibly, founders from other haplogroups dating to the LUP, such as much of K, T, W, and X—may have (a) arrived prior to the LGM, (b) suffered reductions in diversity, as a result of population contractions at the onset of the LGM, and (c) subsequently reexpanded."
Middle Upper Paleolithic contribution...
"The MUP values are perhaps highest in the Mediterranean zone, especially the central Mediterranean region..."
"The value for the MUP is rather low in the basic fs analysis, at ∼10%–15%, and is highest along the Mediterranean, especially in the central-Mediterranean region. However, after allowance is made for multiple expansions of the H-CRS, it rises to ∼25% overall. The contributing clusters are mainly HV*, I, U4, and (in the repartitioned version) H."
Early Upper Paleolithic contribution...
"The EUP values are highest in Scandinavia, the Basque Country, and northeastern Europe..."
"For the first settlement of Europe, at least, the picture seems to be clearer. The regional EUP component varies 5%–15% and comprises mainly haplogroup U5. The values are highest in southern and eastern Europe, as well as in Scandinavia and the Basque Country."
All in all...
These analyses allow us to quantify the effects that various prehistoric processes have had on the composition of the modern mtDNA pool of Europe. They suggest that < 10% of the extant lineages date back to the first colonization of Europe by anatomically modern humans and that ∼20% arrived during the Neolithic.
Most of the other lineages seem most likely to have arrived during the MUP and to have reexpanded during the LUP. Given the uncertainties associated with the analyses, we should not rule out the possibility of a Mesolithic migration, but we have found virtually no evidence supporting this idea.
The above is essentially relevant for the basic theme of major expansion events with the fading of the LGM, which is consistent with R1b bearers' numbers swelling in tandem with said expansions.
More directly related to the issue of R1 bearers, Cinnioglu et al tell us that:
"The phylogenetic and spatial distribution of its equivalent in Europe (Cruciani et al. 2002), the R1-M173 (xM17) lineage for which considerable data exist (Semino et al. 2000a; Wells et al. 2001; Kivisild et al. 2003) implies that R1b3-M269 was well established throughout Paleolithic Europe, probably arriving from West Asia contemporaneous with Aurignacian culture.
Consistent with the general observation about the role played by the so-called "Middle Eastern" corridor in the initial peopling of Europe involving groups who were to become the main source populations of contemporary native Europeans. This prospect is supported by human paleontological record in Europe, wherein the earliest sufficiently complete anatomically modern human specimens dating to the Early Upper Paleolithic are described as being more "African-like" or "tropical African" body proportions [for example, see Holliday & Hilton (2009)]; one would expect such to be the case, if the earliest Europeans were either directly populated from Africa or indirectly populated from therein via the "Middle Eastern" corridor [the latter seems more likely, given the prevalent Hg HV-derived maternal markers in Europe; also see the works of other analysts like Barbujani et al. 1998 and Cinnioglu et al. 2004], as opposed to peopling from central Asia. One would expect the earliest ancestors of modern Europeans to have lost "tropical body plans", if they had come from the sub-tropical regions of central Asia. This is also in line with minimal central Asian and south Asian component in European maternal gene pool, as observed by Richard et al. 2000:
mtDNA in the Near East
Table 1 shows frequencies and age estimates of the main mtDNA haplogroups that occur in the Near East and Europe. These clusters are restricted primarily to Europe and the Near East (western Eurasia). Western-Eurasian lineages are found at moderate frequencies as far east as central Asia (Comas et al. 1998) and are found at low frequencies in both India (Kivisild et al. 1999a) and Siberia (Torroni et al. 1998), but, in these cases, only restricted subsets of the western-Eurasian haplogroups have been found, suggesting that they are most probably the result of secondary expansions from the core Near Eastern/European zone.- Richards et al., Tracing European Founder Lineages in the Near Eastern mtDNA Pool, 2000.
The "moderate frequencies" of Western-Eurasian markers that do appear in central Asia, are proposed here to be largely the product of gene flow from "core Near Eastern/European Zone".
Additionally,...
"The variance of 49a,f ht35 related chromosomes are lower in the Balkan, Caucasian and Iraqi representatives than those in Turkey (Table 4). Similarly, the variance is higher in Iberia than in Western Europe.
The decreasing diversity radiating from Turkey towards Southeast Europe, Caucasus and Mesopotamia approximates similar results from Iberia tracing the re-colonization of Northwest Europe by hunter-gatherers during the Holocene as suggested by others (Torroni et al. 1998; Semino et al. 2000a; Wilson et al. 2001)...
Haplogroup R1b3-M269 occurs at 40–80% frequency in Europe and the associated STR variance suggests that the last ice age modulated R1b3-M269 distribution to refugia in Iberia and Asia Minor from where it subsequently radiated during the Late Upper Paleolithic and Holocene. The R1b3-M269 related, but opposite TaqI p49a, f ht 15 and ht35 distributions reflect the re-peopling of Europe from Iberia and Asia Minor during that period.
The R1b3-M269 variances and expansion time estimates of Iberian and Turkish lineages are similar to each other (Table 2) but higher than observed elsewhere (Table 4). Low variances for R1b3-M269 lineages have also been reported for Czech and Estonian populations (Kivisild et al. 2003)." - Cinnioglu et al. 2004
...in a wrap up, which is relevant to the idea of the lineages having expanded northwards from west Asia, and then subsequently expanding back to the Mediterranean regions [with southwestern Europe, i.e., Iberia being important, in terms of refuge] and Asian Minor during the last Ice age, and then at the end of LGM, re-peopling of the northward European regions began from these regions.
By the way, previous genetic research work made very enthusiastic attempts to correlate the likes of U6 and possible "Eurasian"-tagged mtDNA with R1*-M173, supposedly as an attempt to buttress a possible back-migration into Africa; all but failed, with results showing considerable African mtDNA gene pool instead, for populations bearing these chromosomes.
If as pointed out by L. Luca Cavalli-Sforza [see: Genes, peoples, and languages] that markers across the human genome from a global sample [presumably, of 42 populations, involving some 120 alleles, i.e. aside from the generally used uniparental paternal and maternal markers], suggest a component of about 1/3 African contribution and 2/3 Asian contribution, then the following would seem to lend support to the African-origin scenario presented above, that is—in light of what is already understood about the genetic markers found in tandem with R1*-M173 chromosomes found in the Dead Sea samples...
One reasonable hypothesis is that the genetic distance between Asia and Africa is shorter than that between Africa and the other continents in Table 1 because both Africans and Asians contributed to the settlement of Europe, which began about 40,000 years ago. It seems very reasonable to assume that both continents nearest to Europe contributed to its settlement, even if perhaps at different times and maybe repeatedly. It is reassuring that the analysis of other markers also consistently gives the same results in this case. Moreover, a specific evolutionary model tested, i.e., that Europe is formed by contributions from Asia and Africa, fits the distance matrix perfectly (6). In this simplified model, the migrations postulated to have populated Europe are estimated to have occurred at an early date (30,000 years ago), but it is impossible to distinguish, on the basis of these data, this model from that of several migrations at different times. The overall contributions from Asia and Africa were estimated to be around two-thirds and one-third, respectively. Simulations have shown (7) that this hypothesis explains quite well the discrepancy between trees obtained by maximum likelihood and neighbor joining. - L. Luca Cavalli-Sforza
Synopsis: Perhaps the jury is still out on Hg R, BUT there is a VERY strong case for an African origin of this clade, and it is one of the two most probable geographic considerations for this origin. This is accessed not only from R1* distribution pattern in the continent, but also from closer examination of the rather unique Hg R family of clades that pervades the continent; if there is any evidence of this, then look no further than to the contradicting reports between Berniell-Lee et al.'s (2009) paper and those of Hassan et al.(2008) and Woods et al. (2005). The reports from the latter two confirm that R1* paragroup finds in earlier journals from the likes of Cruciani et al. (2002) were in fact not a matter of the retrospective state of development of sequencing resolution. This is necessary to note, because cases have been made about the need for not reading too much into the earlier R1* reports of Cruciani et al. (2002), or say Luis et al. (2004), on the premise that these involved insufficient sequencing resolution. Out of comparing these journals, and QUITE importantly, being mindful of their respective sequencing resolution pros and cons, the emerging picture of the African Hg R family of clades is one of a varied and a unique co-existence of paraphyletic clades that has thus far not been seen anywhere else. Where Africa falls short in relative diversity as it pertains to downstream Hg R clades, parts of Asia [including Europe] appears to make up for that. Between the so-called "Near East" and Africa, preponderance of DNA-evidence goes to the latter—i.e. African origin. A case for the so-called "Near East" on the other hand, so says the leading proponents thereof—is trumped by finds in southern Asia, the Indian sub-continent in particular, where diversity of the most upstream examples of Hg R clades are concerned. The so-called "Near East" clearly lacks this feature; this issue however, doesn't crop up when it comes to Africa. The only reservations its dissidents continue to hold against the African origin, boils down to the diversity of the downstream clades, if not reduced to merely wondering how Africa could possibly be a reservoir to unique upstream paraphyletic clades, presumably of "all places".
Synopsis: Perhaps the jury is still out on Hg R, BUT there is a VERY strong case for an African origin of this clade, and it is one of the two most probable geographic considerations for this origin. This is accessed not only from R1* distribution pattern in the continent, but also from closer examination of the rather unique Hg R family of clades that pervades the continent; if there is any evidence of this, then look no further than to the contradicting reports between Berniell-Lee et al.'s (2009) paper and those of Hassan et al.(2008) and Woods et al. (2005). The reports from the latter two confirm that R1* paragroup finds in earlier journals from the likes of Cruciani et al. (2002) were in fact not a matter of the retrospective state of development of sequencing resolution. This is necessary to note, because cases have been made about the need for not reading too much into the earlier R1* reports of Cruciani et al. (2002), or say Luis et al. (2004), on the premise that these involved insufficient sequencing resolution. Out of comparing these journals, and QUITE importantly, being mindful of their respective sequencing resolution pros and cons, the emerging picture of the African Hg R family of clades is one of a varied and a unique co-existence of paraphyletic clades that has thus far not been seen anywhere else. Where Africa falls short in relative diversity as it pertains to downstream Hg R clades, parts of Asia [including Europe] appears to make up for that. Between the so-called "Near East" and Africa, preponderance of DNA-evidence goes to the latter—i.e. African origin. A case for the so-called "Near East" on the other hand, so says the leading proponents thereof—is trumped by finds in southern Asia, the Indian sub-continent in particular, where diversity of the most upstream examples of Hg R clades are concerned. The so-called "Near East" clearly lacks this feature; this issue however, doesn't crop up when it comes to Africa. The only reservations its dissidents continue to hold against the African origin, boils down to the diversity of the downstream clades, if not reduced to merely wondering how Africa could possibly be a reservoir to unique upstream paraphyletic clades, presumably of "all places".
________________________________________________________________
*Referential notes:
—Hassan et al. 2008, Y-chromosome variation among Sudanese: Restricted gene flow, concordance with language, geography, and history.
Remarks: The R1-M173 [~ 54%] chromosomes of the Sudanese communities of nomadic Fulani pastoralists, not inconsistent with that found in some west African Fulani [esp. in northern Cameroon], is one area of noteworthy, with regards to Hassan et al.2008. These R1 markers are highly likely those familiar undifferentiated R1*-M173 chromosomes found in Cameroon, and yes, Egypt as well. Of course, as noted in the study, these Sudanese Fulani retain their Niger-congo sub-phylum language.
The authors of this study of course do not specifically tell us this, about the paragroup character of these chromosomes, because their intra-phylogenetic resolution for R1 was not too comprehensive or sharp enough to begin with; but we know that those chromosomes didn't belong R1b1, which is the predominant type in western Europe, and which was specifically tested for in this study.
One might recall, again, that Cruciani et al. also come across said paragroup of R1*-M173 in their Fulani samples from Cameroon.
Also of note, K2 & K* incidences in this study, show considerable distribution amongst the Afrisan ("Afro-Asiatic") speaking groups. Though less relevant to this topic, F-M89's distribution is also noteworthy, across populations generally linked with three major African language phylums namely, Nilo-Saharan and Afrisan [Sudanese groups; present authors], and Niger-Congo [Senegalese sample; courtesy Semino et al. 2002].
Other reading:
More on R1*-M173 bearers
R1*-M173 Chromosomes in Africa - II
Mitochondrial DNA M1 haplogroup: A Response To Ana M. Gonzalez et al. 2007
_____________________________________________________________
Discussion points: Questions & Answers that come up about this subject...
The following is a recounting of questions that came up about a possible African origin of R1*-M173 in a DNA forum run by some Eurocentic-cultist by the name of Andrew Lancaster; he censors the board to ensure dissenting voices [to his subjective opinions] are not heard, and so, this section is being devoted to address such matters, wherein responses are not stifled or edited, as done by such self-professed "discussion boards":
A poster going by a pseudonym "Jafety R1b-U152" writes, having compared a possible African origin to the same sort of logic that places Hg E as an Asian originated marker:
I wanted to say that the view to originate R from Africa seems to be like originating E from outside Africa. There is much more "political" intention than scientific, I guess. Of course your blog do not say Hg E originated outside Africa, and I do not claim it does.
My response:
Whereas R1*-M173 markers were reported across Africa, E* has never been reported in the so-called Middle East, to even begin to compare it an 'inverse' version of Hg E originating in Asia. I make specific points in the blog; if you feel something therein is not right, feel free to point it out *specifically*, and I'll be glad to discuss the point with you.
"Jafety R1b-U152" writes:
R1b has no percentage in the India study because it was not found. Of course, they could not test for downstream SNPs as every sample was M343-
My response:
I know that, as I said so myself.
"Jafety R1b-U152" writes, having been informed about the Fulani sample in Hassan et al.'s (2008) by myself:
I also found the interesting R1* among Fulani in the Sudan study. Vineviz told us in the Sub-Saharan R1b1 thread that P25 is not a stable mutation, and he thinks (I hope I understood correctly) that they probably lost P25, but had it before. I am not an expert, so I can not comment if this is possible.
My response:
Well, Vineviz will have to show evidence of a unique event SNP being lost, if he/she has it. But in terms of the Fulani situation, it is interesting to me, because the Cameroonian Fulani were one of the groups that Cruciani and other research teams had detected undifferentiated R1* chromosomes, with considerably high frequency. Hassan et al.'s study, who did also a test for P25, seems to reaffirm this. Here to, the Sudanese Fulani sport considerably high frequencies. I hear about Bantus in Cameroon have tested positive for P25 markers that were found in those samples, but it is necessary to note that the R1* markers that earlier studies noted in northern Cameroon, happen to be mainly in non-Bantu speaking groups, like the Fulani.
[Note: Emphasis is made here on "non-Bantu", because a recent study by Berniell-Lee et al. claims to have made additional discoveries into where northern Cameroonian R1*-M173 markers may actually fall, where the phylogenetic order of R1 is concerned, presumably by studying Cameroonian Bantu-speaking groups and central African pygmies. However, the R1*-M173 chromosomes located in Cameroonian samples in previous studies, were mainly found in the non-Bantu speaking groups of northern Cameroon in rather considerable frequencies, and virtually rare to absent in Cameroon's Bantu-speaking groups [only the Ewondo were implicated in these markers in Cruciani et al.'s (2002) southern Cameroonian samples @ ~ 3% of that sample]. The said authors (Berniell-Lee et al.) conclude that the previous R1*-M173 are likely to be R1b1* chromosomes, since that is what they found in their sample. This is something worth pointing out, as it seems to not touch the radar of many folks out there. Furthermore, as noted above, the Sudanese Fulani sample of Hassan et al. (2008), obviously tested negative for the P25 marker on their R1*-M173 markers, which again appear in considerable frequencies (54%). This is important, because it contradicts Berniell-Lee et al.'s findings of R1b1*, which does have the P25 marker. Given the recurring theme of R1*-M173 incidence in Hassan et al.'s Sudanese Fulani sample when coupled with those of a number of other research teams in the past, with regards to groups in northern Cameroon, including the Fulani therein, it is not hard to imagine that these are the same markers that the northern Cameroonian Fulanis have too.]
"Jafety R1b-U152" writes:
On Fulani, it is important to see that they are not a monolithic group, for example Senegali Fulani have Hg T while Camerooni not.
My response:
Of course they are not a monolithic group, which is why I said a section of west African Fulani, in my earlier post to you. Please re-examine it. Fulani, save for the isolated cases of these R1* carriers, are largely E-M2 carriers, consistent with other areas of western Africa.
[Note: The above is alluding to genetic composition, of course, but culturally, Fulani is undoubtedly monolithic; in fact, genetically too, for the most part, save for outliers like the R1*-M173, Fulani can be described as largely 'monolithic', in that their gene pool is consistent across the Fulani communities, and with those of the general west African area]
"Jafety R1b-U152" writes:
its African origin is very unlikely.
My response:
Why, when R1*-M173 markers were found there; [what argument is there], besides the argument that Hg R is not as diverse there, which doesn't negate an African origin as I note in the blog?
"Jafety R1b-U152" writes:
A North Indian or Pakistani origin is much more likely if you look at Q, R*, R2, R1a* (xM17), and they have R1* as well. However, R1b (M343) seems to have originated elsewhere, as it is nearly absent from India.
My response:
Like I said in the last post, this rationale is not as unequivocal as you think. R1b is generally rare to absent in Indian populations, and yet, it is generally considered the older branch of the two. If Indian groups are the ancestral groups, one might expect to see a good degree of R1b distribution amongst them alongside R1a, but that's not the case; as you now acknowledge yourself, R1[b] is essentially rare to absent in Indian populations. This means that R1* carriers were still around when R1a mrca emerged, because that is the only way R1a marker could have branched out into its own lineage, independent of R1b. So, the presence of paraphyletic R* markers amongst them can only mean three things: 1) that R1* spread from a western region, where R1b, the older branch, are heavily clustered, to the more eastern areas, in the path of which, R1a would eventual emerge. 2) R* and R1* are relics of this sort of expansion, or 3) R* and R1* in Indian groups are yet more rare R markers whose phylogenetic status is yet to be resolved, because even though they may not match the basic defining markers for established R sub-clades, they could be other newly independent downstream branches that have yet to be identified.
[It should be of note, that the presence of R* and R1* amongst a predominantly R1a carrying groups, can be seen as a sign of its R1a's relatively younger age and expansion than R1b, which again, is mainly seen in western areas. R1b in "Western Asia": It may well imply that R1b had more opportunity to expand and overshadow ancestral R1* or R*, which would have largely experienced negative drift.]
-- Exchange ends --
Interestingly, upon revisiting Wood et al. (2005), it should be pointed out that paraphyletic clade of R*-M207 was detected amongst some "Afro-Asiatic" African groups, along with the paraphyletic clade R1*-M173 [it is worth noting that Wood et al. implicate the Egyptian sample here as something other than that of Semitic speakers (Arabic)], while some Niger-Congo groups — though in small frequencies [pooled] — tested positive for the paraphyletic R1b*, lacking the established downstream R1b markers. Henceforth, R*-M207, lacking downstream mutations have been identified in African groups via this study; and yes, the basic nodes of all presently known Hg R's downstream clades had been accounted for, which means that R*, as predicted above, is NOT relegated to the Indian sub-continent. All in all, this suggests that African Hg R pool is actually more diverse than many seem to think.
*Last edited on 10/22/2010.
*Referential notes:
—Hassan et al. 2008, Y-chromosome variation among Sudanese: Restricted gene flow, concordance with language, geography, and history.
Remarks: The R1-M173 [~ 54%] chromosomes of the Sudanese communities of nomadic Fulani pastoralists, not inconsistent with that found in some west African Fulani [esp. in northern Cameroon], is one area of noteworthy, with regards to Hassan et al.2008. These R1 markers are highly likely those familiar undifferentiated R1*-M173 chromosomes found in Cameroon, and yes, Egypt as well. Of course, as noted in the study, these Sudanese Fulani retain their Niger-congo sub-phylum language.
The authors of this study of course do not specifically tell us this, about the paragroup character of these chromosomes, because their intra-phylogenetic resolution for R1 was not too comprehensive or sharp enough to begin with; but we know that those chromosomes didn't belong R1b1, which is the predominant type in western Europe, and which was specifically tested for in this study.
One might recall, again, that Cruciani et al. also come across said paragroup of R1*-M173 in their Fulani samples from Cameroon.
Also of note, K2 & K* incidences in this study, show considerable distribution amongst the Afrisan ("Afro-Asiatic") speaking groups. Though less relevant to this topic, F-M89's distribution is also noteworthy, across populations generally linked with three major African language phylums namely, Nilo-Saharan and Afrisan [Sudanese groups; present authors], and Niger-Congo [Senegalese sample; courtesy Semino et al. 2002].
Other reading:
More on R1*-M173 bearers
R1*-M173 Chromosomes in Africa - II
Mitochondrial DNA M1 haplogroup: A Response To Ana M. Gonzalez et al. 2007
_____________________________________________________________
Discussion points: Questions & Answers that come up about this subject...
The following is a recounting of questions that came up about a possible African origin of R1*-M173 in a DNA forum run by some Eurocentic-cultist by the name of Andrew Lancaster; he censors the board to ensure dissenting voices [to his subjective opinions] are not heard, and so, this section is being devoted to address such matters, wherein responses are not stifled or edited, as done by such self-professed "discussion boards":
A poster going by a pseudonym "Jafety R1b-U152" writes, having compared a possible African origin to the same sort of logic that places Hg E as an Asian originated marker:
I wanted to say that the view to originate R from Africa seems to be like originating E from outside Africa. There is much more "political" intention than scientific, I guess. Of course your blog do not say Hg E originated outside Africa, and I do not claim it does.
My response:
Whereas R1*-M173 markers were reported across Africa, E* has never been reported in the so-called Middle East, to even begin to compare it an 'inverse' version of Hg E originating in Asia. I make specific points in the blog; if you feel something therein is not right, feel free to point it out *specifically*, and I'll be glad to discuss the point with you.
"Jafety R1b-U152" writes:
R1b has no percentage in the India study because it was not found. Of course, they could not test for downstream SNPs as every sample was M343-
My response:
I know that, as I said so myself.
"Jafety R1b-U152" writes, having been informed about the Fulani sample in Hassan et al.'s (2008) by myself:
I also found the interesting R1* among Fulani in the Sudan study. Vineviz told us in the Sub-Saharan R1b1 thread that P25 is not a stable mutation, and he thinks (I hope I understood correctly) that they probably lost P25, but had it before. I am not an expert, so I can not comment if this is possible.
My response:
Well, Vineviz will have to show evidence of a unique event SNP being lost, if he/she has it. But in terms of the Fulani situation, it is interesting to me, because the Cameroonian Fulani were one of the groups that Cruciani and other research teams had detected undifferentiated R1* chromosomes, with considerably high frequency. Hassan et al.'s study, who did also a test for P25, seems to reaffirm this. Here to, the Sudanese Fulani sport considerably high frequencies. I hear about Bantus in Cameroon have tested positive for P25 markers that were found in those samples, but it is necessary to note that the R1* markers that earlier studies noted in northern Cameroon, happen to be mainly in non-Bantu speaking groups, like the Fulani.
[Note: Emphasis is made here on "non-Bantu", because a recent study by Berniell-Lee et al. claims to have made additional discoveries into where northern Cameroonian R1*-M173 markers may actually fall, where the phylogenetic order of R1 is concerned, presumably by studying Cameroonian Bantu-speaking groups and central African pygmies. However, the R1*-M173 chromosomes located in Cameroonian samples in previous studies, were mainly found in the non-Bantu speaking groups of northern Cameroon in rather considerable frequencies, and virtually rare to absent in Cameroon's Bantu-speaking groups [only the Ewondo were implicated in these markers in Cruciani et al.'s (2002) southern Cameroonian samples @ ~ 3% of that sample]. The said authors (Berniell-Lee et al.) conclude that the previous R1*-M173 are likely to be R1b1* chromosomes, since that is what they found in their sample. This is something worth pointing out, as it seems to not touch the radar of many folks out there. Furthermore, as noted above, the Sudanese Fulani sample of Hassan et al. (2008), obviously tested negative for the P25 marker on their R1*-M173 markers, which again appear in considerable frequencies (54%). This is important, because it contradicts Berniell-Lee et al.'s findings of R1b1*, which does have the P25 marker. Given the recurring theme of R1*-M173 incidence in Hassan et al.'s Sudanese Fulani sample when coupled with those of a number of other research teams in the past, with regards to groups in northern Cameroon, including the Fulani therein, it is not hard to imagine that these are the same markers that the northern Cameroonian Fulanis have too.]
"Jafety R1b-U152" writes:
On Fulani, it is important to see that they are not a monolithic group, for example Senegali Fulani have Hg T while Camerooni not.
My response:
Of course they are not a monolithic group, which is why I said a section of west African Fulani, in my earlier post to you. Please re-examine it. Fulani, save for the isolated cases of these R1* carriers, are largely E-M2 carriers, consistent with other areas of western Africa.
[Note: The above is alluding to genetic composition, of course, but culturally, Fulani is undoubtedly monolithic; in fact, genetically too, for the most part, save for outliers like the R1*-M173, Fulani can be described as largely 'monolithic', in that their gene pool is consistent across the Fulani communities, and with those of the general west African area]
"Jafety R1b-U152" writes:
its African origin is very unlikely.
My response:
Why, when R1*-M173 markers were found there; [what argument is there], besides the argument that Hg R is not as diverse there, which doesn't negate an African origin as I note in the blog?
"Jafety R1b-U152" writes:
A North Indian or Pakistani origin is much more likely if you look at Q, R*, R2, R1a* (xM17), and they have R1* as well. However, R1b (M343) seems to have originated elsewhere, as it is nearly absent from India.
My response:
Like I said in the last post, this rationale is not as unequivocal as you think. R1b is generally rare to absent in Indian populations, and yet, it is generally considered the older branch of the two. If Indian groups are the ancestral groups, one might expect to see a good degree of R1b distribution amongst them alongside R1a, but that's not the case; as you now acknowledge yourself, R1[b] is essentially rare to absent in Indian populations. This means that R1* carriers were still around when R1a mrca emerged, because that is the only way R1a marker could have branched out into its own lineage, independent of R1b. So, the presence of paraphyletic R* markers amongst them can only mean three things: 1) that R1* spread from a western region, where R1b, the older branch, are heavily clustered, to the more eastern areas, in the path of which, R1a would eventual emerge. 2) R* and R1* are relics of this sort of expansion, or 3) R* and R1* in Indian groups are yet more rare R markers whose phylogenetic status is yet to be resolved, because even though they may not match the basic defining markers for established R sub-clades, they could be other newly independent downstream branches that have yet to be identified.
[It should be of note, that the presence of R* and R1* amongst a predominantly R1a carrying groups, can be seen as a sign of its R1a's relatively younger age and expansion than R1b, which again, is mainly seen in western areas. R1b in "Western Asia": It may well imply that R1b had more opportunity to expand and overshadow ancestral R1* or R*, which would have largely experienced negative drift.]
-- Exchange ends --
Interestingly, upon revisiting Wood et al. (2005), it should be pointed out that paraphyletic clade of R*-M207 was detected amongst some "Afro-Asiatic" African groups, along with the paraphyletic clade R1*-M173 [it is worth noting that Wood et al. implicate the Egyptian sample here as something other than that of Semitic speakers (Arabic)], while some Niger-Congo groups — though in small frequencies [pooled] — tested positive for the paraphyletic R1b*, lacking the established downstream R1b markers. Henceforth, R*-M207, lacking downstream mutations have been identified in African groups via this study; and yes, the basic nodes of all presently known Hg R's downstream clades had been accounted for, which means that R*, as predicted above, is NOT relegated to the Indian sub-continent. All in all, this suggests that African Hg R pool is actually more diverse than many seem to think.
*Last edited on 10/22/2010.
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