Abstract
The European genetic landscape has been shaped by several human migrations occurred since Paleolithic times. The accumulation of archaeological records and the concordance of different lines of genetic evidence during the last two decades have triggered an interesting debate concerning the role of ancient settlers from the Franco-Cantabrian region in the postglacial resettlement of Europe. Among the Franco-Cantabrian populations, Basques are regarded as one of the oldest and more intriguing human groups of Europe. Recent data on complete mitochondrial DNA genomes focused on macrohaplogroup R0 revealed that Basques harbor some autochthonous lineages, suggesting a genetic continuity since pre-Neolithic times. However, excluding haplogroup H, the most representative lineage of macrohaplogroup R0, the majority of maternal lineages of this area remains virtually unexplored, so that further refinement of the mtDNA phylogeny based on analyses at the highest level of resolution is crucial for a better understanding of the European prehistory. We thus explored the maternal ancestry of 548 autochthonous individuals from various Franco-Cantabrian populations and sequenced 76 mitogenomes of the most representative lineages. Interestingly, we identified three mtDNA haplogroups, U5b1f, J1c5c1 and V22, that proved to be representative of Franco-Cantabria, notably of the Basque population. The seclusion and diversity of these female genetic lineages support a local origin in the Franco-Cantabrian area during the Mesolithic of southwestern Europe, ∼10,000 years before present (YBP), with signals of expansions at ∼3,500 YBP. These findings provide robust evidence of a partial genetic continuity between contemporary autochthonous populations from the Franco-Cantabrian region, specifically the Basques, and Paleolithic/Mesolithic hunter-gatherer groups. Furthermore, our results raise the current proportion (≈15%) of the Franco-Cantabrian maternal gene pool with a putative pre-Neolithic origin to ≈35%, further supporting the notion of a predominant Paleolithic genetic substrate in extant European populations.
Highlights
The Basque population is considered to be a Paleolithic relict that has inhabited the same rugged area since the Stone Age [1]
The origin of the Euskera remains a bone of contention for the linguistic community, the findings of recent investigations indicate a preservation of a pre-Neolithic substrate that might link this language to hunter-gatherer groups inhabiting Europe in Mesolithic times
We propose maternal lineages U5b1f, J1c5c1 and V22 as autochthonous of the Franco-Cantabrian region and, of the Basque population
Summary
The Basque population is considered to be a Paleolithic relict that has inhabited the same rugged area since the Stone Age [1]. This view has been mainly supported by archaeological, linguistic, and genetic findings. It seems highly unlikely that such a belief system in question and associated social practices would have originated among pastoralists and farmers [4] Another major distinctive sociocultural feature of Basques is their meticulously preserved native language (Euskera). The origin of the Euskera remains a bone of contention for the linguistic community, the findings of recent investigations indicate a preservation of a pre-Neolithic substrate that might link this language to hunter-gatherer groups inhabiting Europe in Mesolithic times (R.M. Frank, unpublished data). Geographical isolation of human settlements within the area, as well as cultural transmission and social pressure have been hypothesized as key factors that have molded the Basque people through the preservation of their distinctive features [6]
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