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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">The Basque Paradigm: Genetic Evidence of a Maternal Continuity in the Franco-Cantabrian Region since Pre-Neolithic Times</title><author><name sortKey="Behar, Doron M" sort="Behar, Doron M" uniqKey="Behar D" first="Doron M." last="Behar">Doron M. Behar</name><affiliation><nlm:aff id="aff1">Institut Pasteur, Unit of Human Evolutionary Genetics, Department of Genomes and Genetics, 25–28 rue Dr. Roux, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Molecular Medicine Laboratory, Rambam Health Care Campus, 31096 Haifa, Israel</nlm:aff></affiliation></author><author><name sortKey="Harmant, Christine" sort="Harmant, Christine" uniqKey="Harmant C" first="Christine" last="Harmant">Christine Harmant</name><affiliation><nlm:aff id="aff1">Institut Pasteur, Unit of Human Evolutionary Genetics, Department of Genomes and Genetics, 25–28 rue Dr. Roux, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Centre National de la Recherche Scientifique, URA3012, 25-28 rue Dr. Roux, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Manry, Jeremy" sort="Manry, Jeremy" uniqKey="Manry J" first="Jeremy" last="Manry">Jeremy Manry</name><affiliation><nlm:aff id="aff1">Institut Pasteur, Unit of Human Evolutionary Genetics, Department of Genomes and Genetics, 25–28 rue Dr. Roux, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Centre National de la Recherche Scientifique, URA3012, 25-28 rue Dr. Roux, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Van Oven, Mannis" sort="Van Oven, Mannis" uniqKey="Van Oven M" first="Mannis" last="Van Oven">Mannis Van Oven</name><affiliation><nlm:aff id="aff4">Department of Forensic Molecular Biology, Erasmus MC, University Medical Center, 3000 Rotterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Haak, Wolfgang" sort="Haak, Wolfgang" uniqKey="Haak W" first="Wolfgang" last="Haak">Wolfgang Haak</name><affiliation><nlm:aff id="aff5">Australian Centre for Ancient DNA, The University of Adelaide, Adelaide, SA 5005, Australia</nlm:aff></affiliation></author><author><name sortKey="Martinez Cruz, Bego A" sort="Martinez Cruz, Bego A" uniqKey="Martinez Cruz B" first="Bego A" last="Martinez-Cruz">Bego A Martinez-Cruz</name><affiliation><nlm:aff id="aff6">Institut de Biologia Evolutiva (Consejo Superior de Investigaciones Cientificas-Universitat Pompeu Fabra), Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, 08003 Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Salaberria, Jasone" sort="Salaberria, Jasone" uniqKey="Salaberria J" first="Jasone" last="Salaberria">Jasone Salaberria</name><affiliation><nlm:aff id="aff7">Centre National de la Recherche Scientifique, Unité Mixte de Recherche 5478, Centre de Recherche sur la Langue et les Textes Basques, 64100 Bayonne, France</nlm:aff></affiliation></author><author><name sortKey="Oyharcabal, Bernard" sort="Oyharcabal, Bernard" uniqKey="Oyharcabal B" first="Bernard" last="Oyharçabal">Bernard Oyharçabal</name><affiliation><nlm:aff id="aff7">Centre National de la Recherche Scientifique, Unité Mixte de Recherche 5478, Centre de Recherche sur la Langue et les Textes Basques, 64100 Bayonne, France</nlm:aff></affiliation></author><author><name sortKey="Bauduer, Frederic" sort="Bauduer, Frederic" uniqKey="Bauduer F" first="Frédéric" last="Bauduer">Frédéric Bauduer</name><affiliation><nlm:aff id="aff8">Maladies Rares: Génétique et Métabolisme, EA 4576, University of Bordeaux, 33076 Bordeaux, France</nlm:aff></affiliation></author><author><name sortKey="Comas, David" sort="Comas, David" uniqKey="Comas D" first="David" last="Comas">David Comas</name><affiliation><nlm:aff id="aff6">Institut de Biologia Evolutiva (Consejo Superior de Investigaciones Cientificas-Universitat Pompeu Fabra), Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, 08003 Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Quintana Murci, Lluis" sort="Quintana Murci, Lluis" uniqKey="Quintana Murci L" first="Lluis" last="Quintana-Murci">Lluis Quintana-Murci</name><affiliation><nlm:aff id="aff1">Institut Pasteur, Unit of Human Evolutionary Genetics, Department of Genomes and Genetics, 25–28 rue Dr. Roux, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Centre National de la Recherche Scientifique, URA3012, 25-28 rue Dr. Roux, 75015 Paris, France</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">22365151</idno><idno type="pmc">3309182</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3309182</idno><idno type="RBID">PMC:3309182</idno><idno type="doi">10.1016/j.ajhg.2012.01.002</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">000126</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000126</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">The Basque Paradigm: Genetic Evidence of a Maternal Continuity in the Franco-Cantabrian Region since Pre-Neolithic Times</title><author><name sortKey="Behar, Doron M" sort="Behar, Doron M" uniqKey="Behar D" first="Doron M." last="Behar">Doron M. Behar</name><affiliation><nlm:aff id="aff1">Institut Pasteur, Unit of Human Evolutionary Genetics, Department of Genomes and Genetics, 25–28 rue Dr. Roux, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Molecular Medicine Laboratory, Rambam Health Care Campus, 31096 Haifa, Israel</nlm:aff></affiliation></author><author><name sortKey="Harmant, Christine" sort="Harmant, Christine" uniqKey="Harmant C" first="Christine" last="Harmant">Christine Harmant</name><affiliation><nlm:aff id="aff1">Institut Pasteur, Unit of Human Evolutionary Genetics, Department of Genomes and Genetics, 25–28 rue Dr. Roux, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Centre National de la Recherche Scientifique, URA3012, 25-28 rue Dr. Roux, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Manry, Jeremy" sort="Manry, Jeremy" uniqKey="Manry J" first="Jeremy" last="Manry">Jeremy Manry</name><affiliation><nlm:aff id="aff1">Institut Pasteur, Unit of Human Evolutionary Genetics, Department of Genomes and Genetics, 25–28 rue Dr. Roux, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Centre National de la Recherche Scientifique, URA3012, 25-28 rue Dr. Roux, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Van Oven, Mannis" sort="Van Oven, Mannis" uniqKey="Van Oven M" first="Mannis" last="Van Oven">Mannis Van Oven</name><affiliation><nlm:aff id="aff4">Department of Forensic Molecular Biology, Erasmus MC, University Medical Center, 3000 Rotterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Haak, Wolfgang" sort="Haak, Wolfgang" uniqKey="Haak W" first="Wolfgang" last="Haak">Wolfgang Haak</name><affiliation><nlm:aff id="aff5">Australian Centre for Ancient DNA, The University of Adelaide, Adelaide, SA 5005, Australia</nlm:aff></affiliation></author><author><name sortKey="Martinez Cruz, Bego A" sort="Martinez Cruz, Bego A" uniqKey="Martinez Cruz B" first="Bego A" last="Martinez-Cruz">Bego A Martinez-Cruz</name><affiliation><nlm:aff id="aff6">Institut de Biologia Evolutiva (Consejo Superior de Investigaciones Cientificas-Universitat Pompeu Fabra), Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, 08003 Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Salaberria, Jasone" sort="Salaberria, Jasone" uniqKey="Salaberria J" first="Jasone" last="Salaberria">Jasone Salaberria</name><affiliation><nlm:aff id="aff7">Centre National de la Recherche Scientifique, Unité Mixte de Recherche 5478, Centre de Recherche sur la Langue et les Textes Basques, 64100 Bayonne, France</nlm:aff></affiliation></author><author><name sortKey="Oyharcabal, Bernard" sort="Oyharcabal, Bernard" uniqKey="Oyharcabal B" first="Bernard" last="Oyharçabal">Bernard Oyharçabal</name><affiliation><nlm:aff id="aff7">Centre National de la Recherche Scientifique, Unité Mixte de Recherche 5478, Centre de Recherche sur la Langue et les Textes Basques, 64100 Bayonne, France</nlm:aff></affiliation></author><author><name sortKey="Bauduer, Frederic" sort="Bauduer, Frederic" uniqKey="Bauduer F" first="Frédéric" last="Bauduer">Frédéric Bauduer</name><affiliation><nlm:aff id="aff8">Maladies Rares: Génétique et Métabolisme, EA 4576, University of Bordeaux, 33076 Bordeaux, France</nlm:aff></affiliation></author><author><name sortKey="Comas, David" sort="Comas, David" uniqKey="Comas D" first="David" last="Comas">David Comas</name><affiliation><nlm:aff id="aff6">Institut de Biologia Evolutiva (Consejo Superior de Investigaciones Cientificas-Universitat Pompeu Fabra), Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, 08003 Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Quintana Murci, Lluis" sort="Quintana Murci, Lluis" uniqKey="Quintana Murci L" first="Lluis" last="Quintana-Murci">Lluis Quintana-Murci</name><affiliation><nlm:aff id="aff1">Institut Pasteur, Unit of Human Evolutionary Genetics, Department of Genomes and Genetics, 25–28 rue Dr. Roux, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Centre National de la Recherche Scientifique, URA3012, 25-28 rue Dr. Roux, 75015 Paris, France</nlm:aff></affiliation></author></analytic><series><title level="j">American Journal of Human Genetics</title><idno type="ISSN">0002-9297</idno><idno type="eISSN">1537-6605</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>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.</p></div></front></TEI><pmc article-type="brief-report"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Am J Hum Genet</journal-id><journal-id journal-id-type="iso-abbrev">Am. J. Hum. Genet</journal-id><journal-title-group><journal-title>American Journal of Human Genetics</journal-title></journal-title-group><issn pub-type="ppub">0002-9297</issn><issn pub-type="epub">1537-6605</issn><publisher><publisher-name>Elsevier</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">22365151</article-id><article-id pub-id-type="pmc">3309182</article-id><article-id pub-id-type="publisher-id">AJHG1062</article-id><article-id pub-id-type="doi">10.1016/j.ajhg.2012.01.002</article-id><article-categories><subj-group subj-group-type="heading"><subject>Report</subject></subj-group></article-categories><title-group><article-title>The Basque Paradigm: Genetic Evidence of a Maternal Continuity in the Franco-Cantabrian Region since Pre-Neolithic Times</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Behar</surname><given-names>Doron M.</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Harmant</surname><given-names>Christine</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Manry</surname><given-names>Jeremy</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>van Oven</surname><given-names>Mannis</given-names></name><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Haak</surname><given-names>Wolfgang</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Martinez-Cruz</surname><given-names>Begoña</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Salaberria</surname><given-names>Jasone</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Oyharçabal</surname><given-names>Bernard</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Bauduer</surname><given-names>Frédéric</given-names></name><xref rid="aff8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Comas</surname><given-names>David</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Quintana-Murci</surname><given-names>Lluis</given-names></name><email>quintana@pasteur.fr</email><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff3" ref-type="aff">3</xref><xref rid="cor1" ref-type="corresp">∗</xref></contrib><contrib contrib-type="author"><collab>The Genographic Consortium</collab><xref rid="fn1" ref-type="fn">9</xref></contrib></contrib-group><aff id="aff1"><label>1</label>Institut Pasteur, Unit of Human Evolutionary Genetics, Department of Genomes and Genetics, 25–28 rue Dr. Roux, 75015 Paris, France</aff><aff id="aff2"><label>2</label>Molecular Medicine Laboratory, Rambam Health Care Campus, 31096 Haifa, Israel</aff><aff id="aff3"><label>3</label>Centre National de la Recherche Scientifique, URA3012, 25-28 rue Dr. Roux, 75015 Paris, France</aff><aff id="aff4"><label>4</label>Department of Forensic Molecular Biology, Erasmus MC, University Medical Center, 3000 Rotterdam, The Netherlands</aff><aff id="aff5"><label>5</label>Australian Centre for Ancient DNA, The University of Adelaide, Adelaide, SA 5005, Australia</aff><aff id="aff6"><label>6</label>Institut de Biologia Evolutiva (Consejo Superior de Investigaciones Cientificas-Universitat Pompeu Fabra), Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, 08003 Barcelona, Spain</aff><aff id="aff7"><label>7</label>Centre National de la Recherche Scientifique, Unité Mixte de Recherche 5478, Centre de Recherche sur la Langue et les Textes Basques, 64100 Bayonne, France</aff><aff id="aff8"><label>8</label>Maladies Rares: Génétique et Métabolisme, EA 4576, University of Bordeaux, 33076 Bordeaux, France</aff><author-notes><corresp id="cor1"><label>∗</label>Corresponding author <email>quintana@pasteur.fr</email></corresp><fn id="fn1"><label>9</label><p>Membership of the Genographic Consortium is provided in the Supplemental Data</p></fn></author-notes><pub-date pub-type="ppub"><day>09</day><month>3</month><year>2012</year></pub-date><volume>90</volume><issue>3</issue><fpage>486</fpage><lpage>493</lpage><history><date date-type="received"><day>23</day><month>11</month><year>2011</year></date><date date-type="rev-recd"><day>21</day><month>12</month><year>2011</year></date><date date-type="accepted"><day>3</day><month>1</month><year>2012</year></date></history><permissions><copyright-statement>© 2012 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved.</copyright-statement><copyright-year>2012</copyright-year><copyright-holder>The American Society of Human Genetics</copyright-holder></permissions><abstract><p>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.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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