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https://www.bilketa.eus/ark:/27020/pasteur-03681978Universitat Pompeu Fabra [Barcelona] (UPF)Génétique Evolutive Humaine - Human Evolutionary Genetics ; Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)IBM T. J (Watson Research Centre)University of AdelaideCIBER de Enfermedades Raras (CIBERER)National Geographic SocietyMaladies Rares - Génétique et Métabolisme (MRGM) ; Université Bordeaux Segalen - Bordeaux 2-Centre Hospitalier Universitaire de Bordeaux (CHU Bordeaux)-Hôpital PellegrinCentre de recherche sur la langue et les textes basques (IKER)This work was supported by the HIPVAL (Histoire des populations et variation linguistique dans les Pyrénées de l’Ouest) project. The HIPVAL project was made possible by grants from the “Conseil Régional d’Aquitaine, the Conseil Général des Pyrénées-Atlantiques, the Conseil des Elus du Pays-Basque,” the Centre National de la Recherche Scientifique (CNRS) (interdisciplinary programme), OHLL (Origine de l’Homme, des Langues et du Langage), and Association Sang 64.Martínez-Cruz, BegoñaHarmant, ChristinePlatt, Daniel, E.Haak, WolfgangManry, JeremyRamos-Luis, EvaSoria-Hernanz, David, F.Bauduer, Frédéric (1960-....)Salaberria, JasoneOyharçabal, Beñat (1949-....)Quintana-Murci, LluisComas, DavidHAL, pasteur-036819782012-03-12International audienceBasque people have received considerable attention from anthropologists, geneticists, and linguists during the last century due to the singularity of their language and to other cultural and biological characteristics. Despite the multidisciplinary efforts performed to address the questions of the origin, uniqueness, and heterogeneity of Basques, the genetic studies performed up to now have suffered from a weak study design where populations are not analyzed in an adequate geographic and population context. To address the former questions and to overcome these design limitations, we have analyzed the uniparentally inherited markers (Y chromosome and mitochondrial DNA) of ;900 individuals from 18 populations, including those where Basque is currently spoken and populations from adjacent regions where Basque might have been spoken in historical times. Our results indicate that Basque-speaking populations fall within the genetic Western European gene pool, that they are similar to geographically surrounding non-Basque populations, and also that their genetic uniqueness is based on a lower amount of external influences compared with other Iberians and French populations. Our data suggest that the genetic heterogeneity and structure observed in the Basque region result from pre-Roman tribal structure related to geography and might be linked to the increased complexity of emerging societies during the Bronze Age. The rough overlap of the pre-Roman tribe location and the current dialect limits support the notion that the environmental diversity in the region has played a recurrent role in cultural differentiation and ethnogenesis at different time periods.https://hal.science/pasteur-03681978https://pasteur.hal.science/pasteur-03681978v1/file/mss091.pdfArticle de journal | Aldizkari bateko artikuluavignette : https://www.bilketa.eus/in/rest/Thumb/image?id=ark:/27020/pasteur-03681978&mat=articleNumenghttp://creativecommons.org/licenses/by-nc/Archive ouverte HAL | HAL artxibo irekiaBasquesY chromosomemitochondrial DNAhaplogroupshuman populationstribal genetic structure[SDV.GEN]Life Sciences [q-bio]/GeneticsEvidence of Pre-Roman Tribal Genetic Structure in Basques from Uniparentally Inherited Markers