Abstract
Basque people have received considerable attention from anthropologists, geneticists and linguists during the last century due to the singularity of their language and to other cultural and biological characteristics. Despite the multidisciplinary efforts performed to address the questions of the origin, uniqueness and heterogeneity of Basques, the genetic studies performed up to now have suffered from a weak study-design where populations are not analyzed in an adequate geographic and population context. To address the former questions and to overcome these design limitations, we have analyzed the uniparentally inherited markers (Y chromosome and mitochondrial DNA) of ∼900 individuals from 18 populations, including those where Basque is currently spoken and populations from adjacent regions where Basque might have been spoken in historical times. Our results indicate that Basque-speaking populations fall within the genetic Western European gene pool and they are similar to geographically surrounding non-Basque populations, and also that their genetic uniqueness is based on a lower amount of external influences compared to other Iberians and French populations. Our data suggest that the genetic heterogeneity and structure observed in the Basque region results from pre-Roman tribal structure related to geography and might be linked to the increased complexity of emerging societies during the Bronze Age. The rough overlap of the pre-Roman tribe location and the current dialect limits supports the notion that the environmental diversity in the region has played a recurrent role in cultural differentiation and ethnogenesis at different time periods.
I do not have a copy yet, so I can only discuss the Y-DNA pool as such, borrowed
from Dienekes:
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Click to expand |
Codes: BIG, Bigorre; BEA, Béarn; CHA, Chalosse; ZMI, Lapurdi/Baztan; NLA,Lapurdi Nafarroa; SOU, Zuberoa; RON, Roncal and Salazar valleys; NCO, CentralWestern Nafarroa; NNO, North Western Nafarroa; GUI, Gipuzkoa; GSO, SouthWestern Gipuzkoa; ALA, Araba; BBA, Bizkaia; BOC, Western Bizkaia; CAN,Cantabria; BUR, Burgos; RIO, La Rioja; NAR, North Aragon.
R1b (South Clade)
The dominant lineage is, of course,
R1b1a2a1a1b (P312/S116), which is also the most important R1b sublineage worldwide, which I have called in the past the
South Clade and will call hereafter as
R1b-S, followed when needed by the last letters and digits of the subclade (see also
ISOGG). This lineage is widespread in Western Europe, specially in the South-West. Maps from
a previous entry (based on Myres 2010 data):
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Naming convention is obsolete but distinctions remain (only R1b1a2-M269 is considered).
Typo: M529, also known as L21, is wrongly written as M259. |
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Approximate dominance of R1b-S (red) and R1b-N (blue).
Basque Country was not sampled in Myres 2010, should be darker red in fact. |
Not only the lineage is dominant by numbers but also important in diversity. Per the last revision, R1b-S has three main known sublineages:
- R1b-S-2 (Z196), which includes:
- R1b-S-2a (M153): Basques and Gascons almost exclusively
- R1b-S-2b (L176.2/S179.2): Gascons and Catalans specially, but more widespread
- R1b-S-3 (S28/U152): Not too frequent but neither rare either among Basques and Gascons (more common in Pyrenean Navarre: RON and NNO) but widespread through mainland Europe, specially Italy (in plain blue in the first map).
- R1b-S-4 (L21/M529/S145, L459): Often known as the Irish clade, is not restricted to Ireland at all but does have a mostly Atlantic distribution (West France, England...). Now we come to know that it is also quite common among Basques and Gascons (yes: this is novel data), reaching >5% among all them (but not in the border areas of CAN, BUR and NAR). In turquoise shades in the first map
The South Clade has other formally described three basal (?) sublineages per ISOGG, one described as "private" (very minor) and the other, without branches, may also be private or at least rare enough - none of them was tested for in this survey in any case. It also has lots of unknown asterisk R1b1a2a1a1b*, what may hide huge basal diversity (or not but probably it does). This is a known problem for all SW European R1b and it does include a good deal of Basque Y-DNA as well, even if Basques have been researched somewhat more than your usual Iberian or French.
All this reinforces my idea of R1b-S being original from the Franco-Cantabrian Region and scattered with, possibly, Magdalenian culture. Other possibilities may exist but in any case it requires an origin in SW Europe, where it is quite obviously most basally diverse. You cannot just argue R1b1a2-M269 as a whole, you need to specifically explain R1b1a2a1a1b-P312/S116 on its own merits and that demands to talk about the prehistory of SW Europe.
Other lineages
The most common Neolithic (??) lineage is by far I2a1a (the Sardinian clade), which is present in all samples excepted Bigorre, being >5% in many of them (Bearn, Dax, all Northern Basque Country, most of Navarre, Cantabria, Rioja and North Aragon - less important in the Western Basque Country however).
Then, of the Mediterranean type, J2a comes next, being important in parts of Navarre, Rioja and Burgos. Less relevant but still deserving mention are E1b-V65 (Araba) and T (Cantabria).
The other two major I subclades are also fairly represented in the Basque/Gascon area, even if not as common as the Sardinian variant. I2a2a (typical of Low Germany) is found at >5% frequencies in Gascony (Bigorre and Dax), while I1 (typical of Scandinavia) is found (>5%) in Araba. Neither of them looks like Viking legacy at all.
This, together with the practical absence (some but very low frequencies) of R1b-N and R1a makes me think that the distribution of Y-DNA I in general is at least partly Paleolithic and not Neolithic, regardless that chance (drift) has concentrated it in some areas. But hard to say based only on this data.
Also R1b1a2a* (L23) must be mentioned, as it is found (>5%) in Bigorre, with some presence in other areas (Bearn, Lapurdi, Rioja). It may be a Neolithic arrival from, ultimately, Anatolia or a remnant of Upper Paleolithic flows.
Other Neolithic lineages (E1b-V13 or G, documented in ancient DNA from Languedoc or Catalonia) have almost no presence in the Basque/Gascon area. Uralic haplogroup N is found 2/54 in Rioja (maybe a Celtic/Indoeuropean legacy?) and as singleton (erratic) in Zuberoa.