Behar, Doron M.Harmant, ChristineManry, Jeremyvan Oven, MannisHaak, WolfgangMartínez Cruz, BegoñaSalaberria, JasoneOyharçabal, BernardBauduer, FrédéricComas, David, 1969-Quintana Murci, LluisGenographic Consortium2015-12-072015-12-072012Behar DM, Harmant C, Manry J, van Oven M, Haak W, Martinez-Cruz B et al. The Basque paradigm: genetic evidence of a maternal continuity in the Franco-Cantabrian region since pre-Neolithic times. Am J Hum Genet. 2012;90(3):486-93. DOI: 10.1016/j.ajhg.2012.01.0020002-9297http://hdl.handle.net/10230/25340Different 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.application/pdfeng© Elsevier. This is the published version of an article http://dx.doi.org/10.1016/j.ajhg.2012.01.002 that appeared in the journal American Society of Human Genetics. It is published in an Open Archive under an Elsevier user license. Details of this licence are available here: http://www.elsevier.com/about/open-access/open-access-policies/oa-license-policy/elsevier-user-licenseGenètica humanaGenètica de poblacionsPaís Bascinfo:eu-repo/semantics/articlehttp://dx.doi.org/10.1016/j.ajhg.2012.01.002info:eu-repo/semantics/openAccess