Lluis Quintana-Murci, Christine Harmant, Doron M. Behar, Wolfgang Haak, Mannis van Oven, Begoña Martínez-Cruz, David Comas, Bernard Oyharçabal, Jasone Salaberria, Frédéric Bauduer, Jeremy Manry, Institut Pasteur, National Geographic Society, Conseil régional d'Aquitaine, Conseil Général des Pyrénées-Atlantiques, Conseil des Elus du Pays-Basque, Centre National de la Recherche Scientifique (France), Centre Hospitalier de la Côte Basque, Netherlands Forensic Institute, Netherlands Genomics Initiative, Netherlands Organization for Scientific Research, Génétique Evolutive Humaine - Human Evolutionary Genetics, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Rambam Health Care Campus [Haifa, Israel], Erasmus University Medical Center [Rotterdam] (Erasmus MC), University of Adelaide, Universitat Pompeu Fabra [Barcelona] (UPF), Centre de recherche sur la langue et les textes basques (IKER), Université de Pau et des Pays de l'Adour (UPPA)-Université Bordeaux Montaigne (UBM)-Centre National de la Recherche Scientifique (CNRS), Maladies Rares - Génétique et Métabolisme (MRGM), Université Bordeaux Segalen - Bordeaux 2-Hôpital Pellegrin-Service de Génétique Médicale du CHU de Bordeaux, This work was supported by the Institut Pasteur, National Geographic, and the Histoire des populations et variation linguistique dans les Pyrénées de l'Ouest project, which received funding from the Conseil Régional d'Aquitaine, the Conseil Général des Pyrénées-Atlantiques, the Conseil des Elus du Pays-Basque, and the Centre National de la Recherche Scientifique interdisciplinary program Origine de l'Homme, des Langues et du Langage. This study also benefited from the support of Department of Hematology, Centre Hospitalier de la Côte Basque, in Bayonne, and Association Sang 64., and Genographic Consortium Members: Syama Adhikarla (Madurai Kamaraj University, Madurai, Tamil Nadu, India), Christina J. Adler (University of Adelaide, South Australia, Australia), Elena Balanovska (Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow, Russia), Oleg Balanovsky (Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow, Russia), Jaume Bertranpetit (Universitat Pompeu Fabra, Barcelona, Spain), Andrew C. Clarke (University of Otago, Dunedin, New Zealand), Alan Cooper (University of Adelaide, South Australia, Australia), Clio S. I. Der Sarkissian (University of Adelaide, South Australia, Australia), Matthew C. Dulik (University of Pennsylvania, Philadelphia, Pennsylvania, United States), Jill B. Gaieski (University of Pennsylvania, Philadelphia, Pennsylvania, United States), ArunKumar GaneshPrasad (Madurai Kamaraj University, Madurai, Tamil Nadu, India), Angela Hobbs (National Health Laboratory Service, Johannesburg, South Africa), Asif Javed (IBM, Yorktown Heights, New York, United States), Li Jin (Fudan University, Shanghai, China), Matthew E. Kaplan (University of Arizona, Tucson, Arizona, United States), Shilin Li (Fudan University, Shanghai, China), Elizabeth A. Matisoo-Smith (University of Otago, Dunedin, New Zealand), Marta Melé (Universitat Pompeu Fabra, Barcelona, Spain), Nirav C. Merchant (University of Arizona, Tucson, Arizona, United States), R. John Mitchell (La Trobe University, Melbourne, Victoria, Australia), Amanda C. Owings (University of Pennsylvania, Philadelphia, Pennsylvania, United States), Laxmi Parida (IBM, Yorktown Heights, New York, United States), Ramasamy Pitchappan (Madurai Kamaraj University, Madurai, Tamil Nadu, India), Daniel E. Platt (IBM, Yorktown Heights, New York, United States), Colin Renfrew (University of Cambridge, Cambridge, United Kingdom), Daniela R. Lacerda (Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil), Ajay K. Royyuru (IBM, Yorktown Heights, New York, United States), Fabrício R. Santos (Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil), Theodore G. Schurr (University of Pennsylvania, Philadelphia, Pennsylvania, United States), Himla Soodyall (National Health Laboratory Service, Johannesburg, South Africa), David F. Soria Hernanz (National Geographic Society, Washington, District of Columbia, United States), Pandikumar Swamikrishnan (IBM, Somers, New York, United States), Chris Tyler-Smith (The Wellcome Trust Sanger Institute, Hinxton, United Kingdom), Arun Varatharajan Santhakumari (Madurai Kamaraj University, Madurai, Tamil Nadu, India), Pedro Paulo Vieira (Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil), Miguel G. Vilar (University of Pennsylvania, Philadelphia, Pennsylvania, United States), R. Spencer Wells (National Geographic Society, Washington, District of Columbia, United States), Janet S. Ziegle (Applied Biosystems, Foster City, California, United States)
Behar, Doron M. et al.-- The Genographic Consortium, 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., This work was supported by the Institut Pasteur, National Geographic, and the Histoire des populations et variation linguistique dans les Pyrénées de l'Ouest project, which received funding from the Conseil Régional d'Aquitaine, the Conseil Général des Pyrénées-Atlantiques, the Conseil des Elus du Pays-Basque, and the Centre National de la Recherche Scientifique interdisciplinary program Origine de l'Homme, des Langues et du Langage. This study also benefited from the support of Department of Hematology, Centre Hospitalier de la Côte Basque, in Bayonne, and Association Sang 64.