Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/72867
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Type: Journal article
Title: The Basque paradigm: genetic evidence of a maternal continuity in the Franco-Cantabrian region since pre-neolithic times
Author: Behar, D.
Haak, W.
Adler, C.
Cooper, A.
Dersarkissian, C.
Citation: American Journal of Human Genetics, 2012; 90(3):486-493
Publisher: Univ Chicago Press
Issue Date: 2012
ISSN: 0002-9297
1537-6605
Statement of
Responsibility: 
Doron M. Behar... Wolfgang Haak... Christina Adler... Alan Cooper... Clio Der Sarkissian... et al.
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.
Keywords: Genographic Consortium; Humans; DNA, Mitochondrial; Genetics, Population; Phylogeny; Base Sequence; Gene Frequency; Haplotypes; Molecular Sequence Data; European Continental Ancestry Group; Ethnic Groups; Genetic Variation
Rights: Copyright © 2012 The American Society of Human Genetics
RMID: 0020118226
DOI: 10.1016/j.ajhg.2012.01.002
Appears in Collections:Environment Institute publications
Earth and Environmental Sciences publications
Environment Institute Leaders publications

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