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.
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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)
|Naming convention is obsolete but distinctions remain (only R1b1a2–M269 is considered).
Typo: M529, also known as L21, is wrongly written as M259.
|Approximate dominance of R1b-S (red) and R1b-N (blue).
Basque Country was not sampled in Myres 2010, should be darker red in fact.
- 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
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.