The Basque paradigm: genetic evidence of a maternal continuity in the Franco-Cantabrian region since pre-Neolithic times

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 epice...

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Autores: Behar, Doron M., Harmant, Christine, Manry, Jeremy, van Oven, Mannis, Haak, Wolfgang, Martínez Cruz, Begoña, Salaberria, Jasone, Oyharçabal, Bernard, Bauduer, Frédéric, Comas, David, 1969-, Quintana Murci, Lluis, Genographic Consortium
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2012
País:España
Institución:Universitat Pompeu Fabra
Repositorio:Repositorio Digital de la UPF
OAI Identifier:oai:repositori.upf.edu:10230/25340
Acceso en línea:http://hdl.handle.net/10230/25340
http://dx.doi.org/10.1016/j.ajhg.2012.01.002
Access Level:acceso abierto
Palabra clave:Genètica humana
Genètica de poblacions
País Basc
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spelling The Basque paradigm: genetic evidence of a maternal continuity in the Franco-Cantabrian region since pre-Neolithic timesBehar, Doron M.Harmant, ChristineManry, Jeremyvan Oven, MannisHaak, WolfgangMartínez Cruz, BegoñaSalaberria, JasoneOyharçabal, BernardBauduer, FrédéricComas, David, 1969-Quintana Murci, LluisGenographic ConsortiumGenètica humanaGenètica de poblacionsPaís BascDifferent 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.Elsevier201520152012info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfhttp://hdl.handle.net/10230/25340http://dx.doi.org/10.1016/j.ajhg.2012.01.002reponame:Repositorio Digital de la UPFinstname:Universitat Pompeu FabraInglésAmerican Society of Human Genetics. 2012;90(3):486-93© 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-licenseinfo:eu-repo/semantics/openAccessoai:repositori.upf.edu:10230/253402026-06-12T07:21:37Z
dc.title.none.fl_str_mv The Basque paradigm: genetic evidence of a maternal continuity in the Franco-Cantabrian region since pre-Neolithic times
title The Basque paradigm: genetic evidence of a maternal continuity in the Franco-Cantabrian region since pre-Neolithic times
spellingShingle The Basque paradigm: genetic evidence of a maternal continuity in the Franco-Cantabrian region since pre-Neolithic times
Behar, Doron M.
Genètica humana
Genètica de poblacions
País Basc
title_short The Basque paradigm: genetic evidence of a maternal continuity in the Franco-Cantabrian region since pre-Neolithic times
title_full The Basque paradigm: genetic evidence of a maternal continuity in the Franco-Cantabrian region since pre-Neolithic times
title_fullStr The Basque paradigm: genetic evidence of a maternal continuity in the Franco-Cantabrian region since pre-Neolithic times
title_full_unstemmed The Basque paradigm: genetic evidence of a maternal continuity in the Franco-Cantabrian region since pre-Neolithic times
title_sort The Basque paradigm: genetic evidence of a maternal continuity in the Franco-Cantabrian region since pre-Neolithic times
dc.creator.none.fl_str_mv Behar, Doron M.
Harmant, Christine
Manry, Jeremy
van Oven, Mannis
Haak, Wolfgang
Martínez Cruz, Begoña
Salaberria, Jasone
Oyharçabal, Bernard
Bauduer, Frédéric
Comas, David, 1969-
Quintana Murci, Lluis
Genographic Consortium
author Behar, Doron M.
author_facet Behar, Doron M.
Harmant, Christine
Manry, Jeremy
van Oven, Mannis
Haak, Wolfgang
Martínez Cruz, Begoña
Salaberria, Jasone
Oyharçabal, Bernard
Bauduer, Frédéric
Comas, David, 1969-
Quintana Murci, Lluis
Genographic Consortium
author_role author
author2 Harmant, Christine
Manry, Jeremy
van Oven, Mannis
Haak, Wolfgang
Martínez Cruz, Begoña
Salaberria, Jasone
Oyharçabal, Bernard
Bauduer, Frédéric
Comas, David, 1969-
Quintana Murci, Lluis
Genographic Consortium
author2_role author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Genètica humana
Genètica de poblacions
País Basc
topic Genètica humana
Genètica de poblacions
País Basc
description 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.
publishDate 2012
dc.date.none.fl_str_mv 2012
2015
2015
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10230/25340
http://dx.doi.org/10.1016/j.ajhg.2012.01.002
url http://hdl.handle.net/10230/25340
http://dx.doi.org/10.1016/j.ajhg.2012.01.002
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv American Society of Human Genetics. 2012;90(3):486-93
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
dc.source.none.fl_str_mv reponame:Repositorio Digital de la UPF
instname:Universitat Pompeu Fabra
instname_str Universitat Pompeu Fabra
reponame_str Repositorio Digital de la UPF
collection Repositorio Digital de la UPF
repository.name.fl_str_mv
repository.mail.fl_str_mv
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