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The Basque paradigm: genetic evidence of a maternal continuity in the Franco-Cantabrian region since pre-Neolithic times.

ABSTRACT: Different lines of evidence point to the resettlement of much of western and central Europe by populations from the Franco-Cantabrian region during the Late Glacial and Postglacial periods. In this context, the study of the genetic diversity of contemporary Basques, a population located at the epicenter of the Franco-Cantabrian region, is particularly useful because they speak a non-Indo-European language that is considered to be a linguistic isolate. In contrast with genome-wide analysis and Y chromosome data, where the problem of poor time estimates remains, a new timescale has been established for the human mtDNA and makes this genome the most informative marker for studying European prehistory. Here, we aim to increase knowledge of the origins of the Basque people and, more generally, of the role of the Franco-Cantabrian refuge in the postglacial repopulation of Europe. We thus characterize the maternal ancestry of 908 Basque and non-Basque individuals from the Basque Country and immediate adjacent regions and, by sequencing 420 complete mtDNA genomes, we focused on haplogroup H. We identified six mtDNA haplogroups, H1j1, H1t1, H2a5a1, H1av1, H3c2a, and H1e1a1, which are autochthonous to the Franco-Cantabrian region and, more specifically, to Basque-speaking populations. We detected signals of the expansion of these haplogroups at ?4,000 years before present (YBP) and estimated their separation from the pan-European gene pool at ?8,000 YBP, antedating the Indo-European arrival to the region. Our results clearly support the hypothesis of a partial genetic continuity of contemporary Basques with the preceding Paleolithic/Mesolithic settlers of their homeland.

SUBMITTER: Behar DM

PROVIDER: S-EPMC3309182 | biostudies-literature | 2012 Mar

REPOSITORIES: biostudies-literature

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The Basque paradigm: genetic evidence of a maternal continuity in the Franco-Cantabrian region since pre-Neolithic times.

Behar Doron M DM Harmant Christine C Manry Jeremy J van Oven Mannis M Haak Wolfgang W Martinez-Cruz Begoña B Salaberria Jasone J Oyharçabal Bernard B Bauduer Frédéric F Comas David D Quintana-Murci Lluis L

American journal of human genetics 20120223 3

Different lines of evidence point to the resettlement of much of western and central Europe by populations from the Franco-Cantabrian region during the Late Glacial and Postglacial periods. In this context, the study of the genetic diversity of contemporary Basques, a population located at the epicenter of the Franco-Cantabrian region, is particularly useful because they speak a non-Indo-European language that is considered to be a linguistic isolate. In contrast with genome-wide analysis and Y ...[more]

PMID: 22365151

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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.

Project description:University hospitals make up the backbone of medical and economic services of hospitals in Germany: they qualify specialist physicians, ensure medical research, and provide highly specialized maximum medical care, which other hospitals cannot undertake. In addition to this assignment, medical research and academic teaching must be managed despite a growing shortage of specialist physicians. By the year 2020, the need for the replacement of retired physicians and increased demand will total 30,000 positions. The situation will become more difficult because, on the whole, patients are becoming older and sicker and because specialist physicians are able to find more attractive working conditions in smaller hospitals, abroad, or outside of curative medicine.In order to retain sufficient qualified employees, major improvements in quality are required in terms of working and training conditions. For this purpose, a sustainable innovation process is necessary, which incorporates solutions from outside of the health care sector in order to be able to learn from experiences and mistakes from other industries. The FacharztPlus project aims to find suitable measures in order to retain specialist physicians for more years after the completion of 5 years of professional training. This should determine the suitability of additional qualifications alongside the professional career and an expertise-related work organization oriented to different stages of life.Structured interviews, surveys, and repertory grids are used as preparation for cross-industry expert panels to create future work scenarios for university hospitals. Industries involved are harbor logistics (container terminal), airports, and digitized industrial production ("industry 4.0") because these industries are also facing a shortage of qualified staff and have to respond to rapidly changing demands. Based on the experts' scenarios, consensus groups will be established in each university hospital trying to reach consensus about the implementation of relevant factors in order to improve employee retention.We expect these consensus groups to develop and introduce measures for more structured training procedures, individual and team incentives, organizational guidelines for better recruiting and retention in hospitals, models of flexible and attractive working conditions including shift work and vacation planning, and use of new learning tools (eg, tablet PCs and mobile phones).All measures are implemented in the Department of Anaesthesiology, Intensive Care, Emergency Care and Pain Medicine at the University Hospital Muenster (UKM) with approximately 150 physicians and in the further 44 departments of the UKM and 22 teaching hospitals, which all together employ more than 5000 physicians. The measures will also be implemented at the university hospitals in Aachen, Rostock, and Greifswald. All decisions and measures will be discussed with representatives from hospital management and professional associations. Results will be presented at conferences and published in journals.

Dataset Information

The Basque paradigm: genetic evidence of a maternal continuity in the Franco-Cantabrian region since pre-Neolithic times.

Publications

The Basque paradigm: genetic evidence of a maternal continuity in the Franco-Cantabrian region since pre-Neolithic times.

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