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Genetic continuity in the Franco-Cantabrian region: new clues from autochthonous mitogenomes.

ABSTRACT: BACKGROUND: The Late Glacial Maximum (LGM), ?20 thousand years ago (kya), is thought to have forced the people inhabiting vast areas of northern and central Europe to retreat to southern regions characterized by milder climatic conditions. Archaeological records indicate that Franco-Cantabria might have been the major source for the re-peopling of Europe at the beginning of the Holocene (11.5 kya). However, genetic evidence is still scarce and has been the focus of an intense debate. METHODS/PRINCIPAL FINDINGS: Based on a survey of more than 345,000 partial control region sequences and the analysis of 53 mitochondrial DNA (mtDNA) genomes, we identified an mtDNA lineage, HV4a1a, which most likely arose in the Franco-Cantabrian area about 5.4 kya and remained confined to northern Iberia. CONCLUSIONS/SIGNIFICANCE: The HV4a1a lineage and several of its younger branches reveal for the first time genetic continuity in this region and long-term episodes of isolation. This, in turn, could at least in part explain the unique linguistic and cultural features of the Basque region.

SUBMITTER: Gomez-Carballa A

PROVIDER: S-EPMC3307710 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature

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Genetic continuity in the Franco-Cantabrian region: new clues from autochthonous mitogenomes.

Gómez-Carballa Alberto A Olivieri Anna A Behar Doron M DM Achilli Alessandro A Torroni Antonio A Salas Antonio A

PloS one 20120319 3

<h4>Background</h4>The Late Glacial Maximum (LGM), ∼20 thousand years ago (kya), is thought to have forced the people inhabiting vast areas of northern and central Europe to retreat to southern regions characterized by milder climatic conditions. Archaeological records indicate that Franco-Cantabria might have been the major source for the re-peopling of Europe at the beginning of the Holocene (11.5 kya). However, genetic evidence is still scarce and has been the focus of an intense debate.<h4>M ...[more]

PMID: 22442672

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Project description: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.

Dataset Information

Genetic continuity in the Franco-Cantabrian region: new clues from autochthonous mitogenomes.

Publications

Genetic continuity in the Franco-Cantabrian region: new clues from autochthonous mitogenomes.

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