Origins, admixture and founder lineages in European Roma.
Identifieur interne : 001D41 ( PubMed/Curation ); précédent : 001D40; suivant : 001D42Origins, admixture and founder lineages in European Roma.
Auteurs : Bego A Martínez-Cruz [Espagne] ; Isabel Mendizabal [Espagne] ; Christine Harmant [France] ; Rosario De Pablo [Espagne] ; Mihai Ioana [Roumanie] ; Dora Angelicheva [Australie] ; Anastasia Kouvatsi [Grèce] ; Halyna Makukh [Ukraine] ; Mihai G. Netea [Pays-Bas] ; Horolma Pamjav [Hongrie] ; Andrea Zalán [Hongrie] ; Ivailo Tournev [Bulgarie] ; Elena Marushiakova [Bulgarie] ; Vesselin Popov [Bulgarie] ; Jaume Bertranpetit [Espagne] ; Luba Kalaydjieva [Australie] ; Lluis Quintana-Murci [France] ; David Comas [Espagne]Source :
- European journal of human genetics : EJHG [ 1476-5438 ] ; 2016.
Descripteurs français
- KwdFr :
- MESH :
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : DNA, Mitochondrial.
- genetics : Chromosomes, Human, Y, Roma.
- Europe, Founder Effect, Genetic Heterogeneity, Genome, Human, Human Migration, Humans, Pedigree, Polymorphism, Genetic.
Abstract
The Roma, also known as 'Gypsies', represent the largest and the most widespread ethnic minority of Europe. There is increasing evidence, based on linguistic, anthropological and genetic data, to suggest that they originated from the Indian subcontinent, with subsequent bottlenecks and undetermined gene flow from/to hosting populations during their diaspora. Further support comes from the presence of Indian uniparentally inherited lineages, such as mitochondrial DNA M and Y-chromosome H haplogroups, in a significant number of Roma individuals. However, the limited resolution of most genetic studies so far, together with the restriction of the samples used, have prevented the detection of other non-Indian founder lineages that might have been present in the proto-Roma population. We performed a high-resolution study of the uniparental genomes of 753 Roma and 984 non-Roma hosting European individuals. Roma groups show lower genetic diversity and high heterogeneity compared with non-Roma samples as a result of lower effective population size and extensive drift, consistent with a series of bottlenecks during their diaspora. We found a set of founder lineages, present in the Roma and virtually absent in the non-Roma, for the maternal (H7, J1b3, J1c1, M18, M35b, M5a1, U3, and X2d) and paternal (I-P259, J-M92, and J-M67) genomes. This lineage classification allows us to identify extensive gene flow from non-Roma to Roma groups, whereas the opposite pattern, although not negligible, is substantially lower (up to 6.3%). Finally, the exact haplotype matching analysis of both uniparental lineages consistently points to a Northwestern origin of the proto-Roma population within the Indian subcontinent.
DOI: 10.1038/ejhg.2015.201
PubMed: 26374132
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Origins, admixture and founder lineages in European Roma.</title><author><name sortKey="Martinez Cruz, Bego A" sort="Martinez Cruz, Bego A" uniqKey="Martinez Cruz B" first="Bego A" last="Martínez-Cruz">Bego A Martínez-Cruz</name><affiliation wicri:level="1"><nlm:affiliation>Departament de Ciències Experimentals i de la Salut, Institut de Biologia Evolutiva (CSIC-UPF), Universitat Pompeu Fabra, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Departament de Ciències Experimentals i de la Salut, Institut de Biologia Evolutiva (CSIC-UPF), Universitat Pompeu Fabra, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Mendizabal, Isabel" sort="Mendizabal, Isabel" uniqKey="Mendizabal I" first="Isabel" last="Mendizabal">Isabel Mendizabal</name><affiliation wicri:level="1"><nlm:affiliation>Departament de Ciències Experimentals i de la Salut, Institut de Biologia Evolutiva (CSIC-UPF), Universitat Pompeu Fabra, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Departament de Ciències Experimentals i de la Salut, Institut de Biologia Evolutiva (CSIC-UPF), Universitat Pompeu Fabra, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Harmant, Christine" sort="Harmant, Christine" uniqKey="Harmant C" first="Christine" last="Harmant">Christine Harmant</name><affiliation wicri:level="1"><nlm:affiliation>Unit of Human Evolutionary Genetics, Department of Genomes and Genetics, Institut Pasteur, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Unit of Human Evolutionary Genetics, Department of Genomes and Genetics, Institut Pasteur, Paris</wicri:regionArea></affiliation></author><author><name sortKey="De Pablo, Rosario" sort="De Pablo, Rosario" uniqKey="De Pablo R" first="Rosario" last="De Pablo">Rosario De Pablo</name><affiliation wicri:level="1"><nlm:affiliation>Servicio de Inmunología, Hospital Universitario Puerta de Hierro, Madrid, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Servicio de Inmunología, Hospital Universitario Puerta de Hierro, Madrid</wicri:regionArea></affiliation></author><author><name sortKey="Ioana, Mihai" sort="Ioana, Mihai" uniqKey="Ioana M" first="Mihai" last="Ioana">Mihai Ioana</name><affiliation wicri:level="1"><nlm:affiliation>University of Medicine and Pharmacy Craiova, Craiova, Romania.</nlm:affiliation><country xml:lang="fr">Roumanie</country><wicri:regionArea>University of Medicine and Pharmacy Craiova, Craiova</wicri:regionArea></affiliation></author><author><name sortKey="Angelicheva, Dora" sort="Angelicheva, Dora" uniqKey="Angelicheva D" first="Dora" last="Angelicheva">Dora Angelicheva</name><affiliation wicri:level="1"><nlm:affiliation>Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Perth, WA, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Perth, WA</wicri:regionArea></affiliation></author><author><name sortKey="Kouvatsi, Anastasia" sort="Kouvatsi, Anastasia" uniqKey="Kouvatsi A" first="Anastasia" last="Kouvatsi">Anastasia Kouvatsi</name><affiliation wicri:level="1"><nlm:affiliation>Department of Genetics, Development and Molecular Biology, School of Biology, Aristotle University of Thessaloniki, Thessaloniki, Greece.</nlm:affiliation><country xml:lang="fr">Grèce</country><wicri:regionArea>Department of Genetics, Development and Molecular Biology, School of Biology, Aristotle University of Thessaloniki, Thessaloniki</wicri:regionArea></affiliation></author><author><name sortKey="Makukh, Halyna" sort="Makukh, Halyna" uniqKey="Makukh H" first="Halyna" last="Makukh">Halyna Makukh</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Hereditary Pathology of the Ukrainian Academy of Medical Sciences, Lviv, Ukraine.</nlm:affiliation><country xml:lang="fr">Ukraine</country><wicri:regionArea>Institute of Hereditary Pathology of the Ukrainian Academy of Medical Sciences, Lviv</wicri:regionArea></affiliation></author><author><name sortKey="Netea, Mihai G" sort="Netea, Mihai G" uniqKey="Netea M" first="Mihai G" last="Netea">Mihai G. Netea</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen</wicri:regionArea></affiliation></author><author><name sortKey="Pamjav, Horolma" sort="Pamjav, Horolma" uniqKey="Pamjav H" first="Horolma" last="Pamjav">Horolma Pamjav</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Forensic Medicine, Network of Forensic Science Institutes, Budapest, Hungary.</nlm:affiliation><country xml:lang="fr">Hongrie</country><wicri:regionArea>Institute of Forensic Medicine, Network of Forensic Science Institutes, Budapest</wicri:regionArea></affiliation></author><author><name sortKey="Zalan, Andrea" sort="Zalan, Andrea" uniqKey="Zalan A" first="Andrea" last="Zalán">Andrea Zalán</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Forensic Medicine, Network of Forensic Science Institutes, Budapest, Hungary.</nlm:affiliation><country xml:lang="fr">Hongrie</country><wicri:regionArea>Institute of Forensic Medicine, Network of Forensic Science Institutes, Budapest</wicri:regionArea></affiliation></author><author><name sortKey="Tournev, Ivailo" sort="Tournev, Ivailo" uniqKey="Tournev I" first="Ivailo" last="Tournev">Ivailo Tournev</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Medical University-Sofia, Sofia, Bulgaria.</nlm:affiliation><country xml:lang="fr">Bulgarie</country><wicri:regionArea>Department of Neurology, Medical University-Sofia, Sofia</wicri:regionArea></affiliation></author><author><name sortKey="Marushiakova, Elena" sort="Marushiakova, Elena" uniqKey="Marushiakova E" first="Elena" last="Marushiakova">Elena Marushiakova</name><affiliation wicri:level="1"><nlm:affiliation>Institute 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Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Departament de Ciències Experimentals i de la Salut, Institut de Biologia Evolutiva (CSIC-UPF), Universitat Pompeu Fabra, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Kalaydjieva, Luba" sort="Kalaydjieva, Luba" uniqKey="Kalaydjieva L" first="Luba" last="Kalaydjieva">Luba Kalaydjieva</name><affiliation wicri:level="1"><nlm:affiliation>Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Perth, WA, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Perth, WA</wicri:regionArea></affiliation></author><author><name sortKey="Quintana Murci, Lluis" sort="Quintana Murci, Lluis" uniqKey="Quintana Murci L" first="Lluis" last="Quintana-Murci">Lluis 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xml:lang="fr">Espagne</country><wicri:regionArea>Departament de Ciències Experimentals i de la Salut, Institut de Biologia Evolutiva (CSIC-UPF), Universitat Pompeu Fabra, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Mendizabal, Isabel" sort="Mendizabal, Isabel" uniqKey="Mendizabal I" first="Isabel" last="Mendizabal">Isabel Mendizabal</name><affiliation wicri:level="1"><nlm:affiliation>Departament de Ciències Experimentals i de la Salut, Institut de Biologia Evolutiva (CSIC-UPF), Universitat Pompeu Fabra, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Departament de Ciències Experimentals i de la Salut, Institut de Biologia Evolutiva (CSIC-UPF), Universitat Pompeu Fabra, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Harmant, Christine" sort="Harmant, Christine" uniqKey="Harmant C" first="Christine" last="Harmant">Christine Harmant</name><affiliation wicri:level="1"><nlm:affiliation>Unit of Human Evolutionary Genetics, Department of Genomes and Genetics, Institut Pasteur, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Unit of Human Evolutionary Genetics, Department of Genomes and Genetics, Institut Pasteur, Paris</wicri:regionArea></affiliation></author><author><name sortKey="De Pablo, Rosario" sort="De Pablo, Rosario" uniqKey="De Pablo R" first="Rosario" last="De Pablo">Rosario De Pablo</name><affiliation wicri:level="1"><nlm:affiliation>Servicio de Inmunología, Hospital Universitario Puerta de Hierro, Madrid, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Servicio de Inmunología, Hospital Universitario Puerta de Hierro, Madrid</wicri:regionArea></affiliation></author><author><name sortKey="Ioana, Mihai" sort="Ioana, Mihai" uniqKey="Ioana M" first="Mihai" last="Ioana">Mihai Ioana</name><affiliation wicri:level="1"><nlm:affiliation>University of Medicine and Pharmacy Craiova, Craiova, Romania.</nlm:affiliation><country xml:lang="fr">Roumanie</country><wicri:regionArea>University of Medicine and Pharmacy Craiova, Craiova</wicri:regionArea></affiliation></author><author><name sortKey="Angelicheva, Dora" sort="Angelicheva, Dora" uniqKey="Angelicheva D" first="Dora" last="Angelicheva">Dora Angelicheva</name><affiliation wicri:level="1"><nlm:affiliation>Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Perth, WA, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Perth, WA</wicri:regionArea></affiliation></author><author><name sortKey="Kouvatsi, Anastasia" sort="Kouvatsi, Anastasia" uniqKey="Kouvatsi A" first="Anastasia" last="Kouvatsi">Anastasia Kouvatsi</name><affiliation wicri:level="1"><nlm:affiliation>Department of Genetics, Development and Molecular Biology, School of Biology, Aristotle University of Thessaloniki, Thessaloniki, Greece.</nlm:affiliation><country xml:lang="fr">Grèce</country><wicri:regionArea>Department of Genetics, Development and Molecular Biology, School of Biology, Aristotle University of Thessaloniki, Thessaloniki</wicri:regionArea></affiliation></author><author><name sortKey="Makukh, Halyna" sort="Makukh, Halyna" uniqKey="Makukh H" first="Halyna" last="Makukh">Halyna Makukh</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Hereditary Pathology of the Ukrainian Academy of Medical Sciences, Lviv, Ukraine.</nlm:affiliation><country xml:lang="fr">Ukraine</country><wicri:regionArea>Institute of Hereditary Pathology of the Ukrainian Academy of Medical Sciences, Lviv</wicri:regionArea></affiliation></author><author><name sortKey="Netea, Mihai G" sort="Netea, Mihai G" uniqKey="Netea M" first="Mihai G" last="Netea">Mihai G. Netea</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen</wicri:regionArea></affiliation></author><author><name sortKey="Pamjav, Horolma" sort="Pamjav, Horolma" uniqKey="Pamjav H" first="Horolma" last="Pamjav">Horolma Pamjav</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Forensic Medicine, Network of Forensic Science Institutes, Budapest, Hungary.</nlm:affiliation><country xml:lang="fr">Hongrie</country><wicri:regionArea>Institute of Forensic Medicine, Network of Forensic Science Institutes, Budapest</wicri:regionArea></affiliation></author><author><name sortKey="Zalan, Andrea" sort="Zalan, Andrea" uniqKey="Zalan A" first="Andrea" last="Zalán">Andrea Zalán</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Forensic Medicine, Network of Forensic Science Institutes, Budapest, Hungary.</nlm:affiliation><country xml:lang="fr">Hongrie</country><wicri:regionArea>Institute of Forensic Medicine, Network of Forensic Science Institutes, Budapest</wicri:regionArea></affiliation></author><author><name sortKey="Tournev, Ivailo" sort="Tournev, Ivailo" uniqKey="Tournev I" first="Ivailo" last="Tournev">Ivailo Tournev</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Medical University-Sofia, Sofia, Bulgaria.</nlm:affiliation><country xml:lang="fr">Bulgarie</country><wicri:regionArea>Department of Neurology, Medical University-Sofia, Sofia</wicri:regionArea></affiliation></author><author><name sortKey="Marushiakova, Elena" sort="Marushiakova, Elena" uniqKey="Marushiakova E" first="Elena" last="Marushiakova">Elena Marushiakova</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Ethnology, Bulgarian Academy of Sciences, Sofia, Bulgaria.</nlm:affiliation><country xml:lang="fr">Bulgarie</country><wicri:regionArea>Institute of Ethnology, Bulgarian Academy of Sciences, Sofia</wicri:regionArea></affiliation></author><author><name sortKey="Popov, Vesselin" sort="Popov, Vesselin" uniqKey="Popov V" first="Vesselin" last="Popov">Vesselin Popov</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Ethnology, Bulgarian Academy of Sciences, Sofia, Bulgaria.</nlm:affiliation><country xml:lang="fr">Bulgarie</country><wicri:regionArea>Institute of Ethnology, Bulgarian Academy of Sciences, Sofia</wicri:regionArea></affiliation></author><author><name sortKey="Bertranpetit, Jaume" sort="Bertranpetit, Jaume" uniqKey="Bertranpetit J" first="Jaume" last="Bertranpetit">Jaume Bertranpetit</name><affiliation wicri:level="1"><nlm:affiliation>Departament de Ciències Experimentals i de la Salut, Institut de Biologia Evolutiva (CSIC-UPF), Universitat Pompeu Fabra, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Departament de Ciències Experimentals i de la Salut, Institut de Biologia Evolutiva (CSIC-UPF), Universitat Pompeu Fabra, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Kalaydjieva, Luba" sort="Kalaydjieva, Luba" uniqKey="Kalaydjieva L" first="Luba" last="Kalaydjieva">Luba Kalaydjieva</name><affiliation wicri:level="1"><nlm:affiliation>Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Perth, WA, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Perth, WA</wicri:regionArea></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 wicri:level="1"><nlm:affiliation>Unit of Human Evolutionary Genetics, Department of Genomes and Genetics, Institut Pasteur, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Unit of Human Evolutionary Genetics, Department of Genomes and Genetics, Institut Pasteur, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Comas, David" sort="Comas, David" uniqKey="Comas D" first="David" last="Comas">David Comas</name><affiliation wicri:level="1"><nlm:affiliation>Departament de Ciències Experimentals i de la Salut, Institut de Biologia Evolutiva (CSIC-UPF), Universitat Pompeu Fabra, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Departament de Ciències Experimentals i de la Salut, Institut de Biologia Evolutiva (CSIC-UPF), Universitat Pompeu Fabra, Barcelona</wicri:regionArea></affiliation></author></analytic><series><title level="j">European journal of human genetics : EJHG</title><idno type="eISSN">1476-5438</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chromosomes, Human, Y (genetics)</term><term>DNA, Mitochondrial (genetics)</term><term>Europe</term><term>Founder Effect</term><term>Genetic Heterogeneity</term><term>Genome, Human</term><term>Human Migration</term><term>Humans</term><term>Pedigree</term><term>Polymorphism, Genetic</term><term>Roma (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>ADN mitochondrial (génétique)</term><term>Chromosomes Y humains (génétique)</term><term>Effet fondateur</term><term>Europe</term><term>Génome humain</term><term>Humains</term><term>Hétérogénéité génétique</term><term>Migration humaine</term><term>Pedigree</term><term>Polymorphisme génétique</term><term>Tsigane (génétique)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA, Mitochondrial</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Y</term><term>Roma</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>ADN mitochondrial</term><term>Chromosomes Y humains</term><term>Tsigane</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Europe</term><term>Founder Effect</term><term>Genetic Heterogeneity</term><term>Genome, Human</term><term>Human Migration</term><term>Humans</term><term>Pedigree</term><term>Polymorphism, Genetic</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Effet fondateur</term><term>Europe</term><term>Génome humain</term><term>Humains</term><term>Hétérogénéité génétique</term><term>Migration humaine</term><term>Pedigree</term><term>Polymorphisme génétique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The Roma, also known as 'Gypsies', represent the largest and the most widespread ethnic minority of Europe. There is increasing evidence, based on linguistic, anthropological and genetic data, to suggest that they originated from the Indian subcontinent, with subsequent bottlenecks and undetermined gene flow from/to hosting populations during their diaspora. Further support comes from the presence of Indian uniparentally inherited lineages, such as mitochondrial DNA M and Y-chromosome H haplogroups, in a significant number of Roma individuals. However, the limited resolution of most genetic studies so far, together with the restriction of the samples used, have prevented the detection of other non-Indian founder lineages that might have been present in the proto-Roma population. We performed a high-resolution study of the uniparental genomes of 753 Roma and 984 non-Roma hosting European individuals. Roma groups show lower genetic diversity and high heterogeneity compared with non-Roma samples as a result of lower effective population size and extensive drift, consistent with a series of bottlenecks during their diaspora. We found a set of founder lineages, present in the Roma and virtually absent in the non-Roma, for the maternal (H7, J1b3, J1c1, M18, M35b, M5a1, U3, and X2d) and paternal (I-P259, J-M92, and J-M67) genomes. This lineage classification allows us to identify extensive gene flow from non-Roma to Roma groups, whereas the opposite pattern, although not negligible, is substantially lower (up to 6.3%). Finally, the exact haplotype matching analysis of both uniparental lineages consistently points to a Northwestern origin of the proto-Roma population within the Indian subcontinent.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">26374132</PMID><DateCreated><Year>2016</Year><Month>05</Month><Day>12</Day></DateCreated><DateCompleted><Year>2017</Year><Month>07</Month><Day>26</Day></DateCompleted><DateRevised><Year>2017</Year><Month>07</Month><Day>26</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1476-5438</ISSN><JournalIssue CitedMedium="Internet"><Volume>24</Volume><Issue>6</Issue><PubDate><Year>2016</Year><Month>Jun</Month></PubDate></JournalIssue><Title>European journal of human genetics : EJHG</Title><ISOAbbreviation>Eur. J. Hum. Genet.</ISOAbbreviation></Journal><ArticleTitle>Origins, admixture and founder lineages in European Roma.</ArticleTitle><Pagination><MedlinePgn>937-43</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1038/ejhg.2015.201</ELocationID><Abstract><AbstractText>The Roma, also known as 'Gypsies', represent the largest and the most widespread ethnic minority of Europe. There is increasing evidence, based on linguistic, anthropological and genetic data, to suggest that they originated from the Indian subcontinent, with subsequent bottlenecks and undetermined gene flow from/to hosting populations during their diaspora. Further support comes from the presence of Indian uniparentally inherited lineages, such as mitochondrial DNA M and Y-chromosome H haplogroups, in a significant number of Roma individuals. However, the limited resolution of most genetic studies so far, together with the restriction of the samples used, have prevented the detection of other non-Indian founder lineages that might have been present in the proto-Roma population. We performed a high-resolution study of the uniparental genomes of 753 Roma and 984 non-Roma hosting European individuals. Roma groups show lower genetic diversity and high heterogeneity compared with non-Roma samples as a result of lower effective population size and extensive drift, consistent with a series of bottlenecks during their diaspora. We found a set of founder lineages, present in the Roma and virtually absent in the non-Roma, for the maternal (H7, J1b3, J1c1, M18, M35b, M5a1, U3, and X2d) and paternal (I-P259, J-M92, and J-M67) genomes. This lineage classification allows us to identify extensive gene flow from non-Roma to Roma groups, whereas the opposite pattern, although not negligible, is substantially lower (up to 6.3%). Finally, the exact haplotype matching analysis of both uniparental lineages consistently points to a Northwestern origin of the proto-Roma population within the Indian subcontinent.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Martínez-Cruz</LastName><ForeName>Begoña</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Departament de Ciències Experimentals i de la Salut, Institut de Biologia Evolutiva (CSIC-UPF), Universitat Pompeu Fabra, Barcelona, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mendizabal</LastName><ForeName>Isabel</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Departament de Ciències Experimentals i de la Salut, Institut de Biologia Evolutiva (CSIC-UPF), Universitat Pompeu Fabra, Barcelona, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Harmant</LastName><ForeName>Christine</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Unit of Human Evolutionary Genetics, Department of Genomes and Genetics, Institut Pasteur, Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>CNRS URA3012, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>de Pablo</LastName><ForeName>Rosario</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Servicio de Inmunología, Hospital Universitario Puerta de Hierro, Madrid, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ioana</LastName><ForeName>Mihai</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>University of Medicine and Pharmacy Craiova, Craiova, Romania.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>University of Medicine and Pharmacy Carol Davila Bucharest, Bucharest, Romania.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Angelicheva</LastName><ForeName>Dora</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Perth, WA, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kouvatsi</LastName><ForeName>Anastasia</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Genetics, Development and Molecular Biology, School of Biology, Aristotle University of Thessaloniki, Thessaloniki, Greece.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Makukh</LastName><ForeName>Halyna</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Institute of Hereditary Pathology of the Ukrainian Academy of Medical Sciences, Lviv, Ukraine.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Netea</LastName><ForeName>Mihai G</ForeName><Initials>MG</Initials><AffiliationInfo><Affiliation>Department of Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pamjav</LastName><ForeName>Horolma</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Institute of Forensic Medicine, Network of Forensic Science Institutes, Budapest, Hungary.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Zalán</LastName><ForeName>Andrea</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Institute of Forensic Medicine, Network of Forensic Science Institutes, Budapest, Hungary.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tournev</LastName><ForeName>Ivailo</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Department of Neurology, Medical University-Sofia, Sofia, Bulgaria.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Marushiakova</LastName><ForeName>Elena</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Institute of Ethnology, Bulgarian Academy of Sciences, Sofia, Bulgaria.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Popov</LastName><ForeName>Vesselin</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>Institute of Ethnology, Bulgarian Academy of Sciences, Sofia, Bulgaria.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bertranpetit</LastName><ForeName>Jaume</ForeName><Initials>J</Initials><Identifier Source="ORCID">http://orcid.org/0000-0003-0100-0590</Identifier><AffiliationInfo><Affiliation>Departament de Ciències Experimentals i de la Salut, Institut de Biologia Evolutiva (CSIC-UPF), Universitat Pompeu Fabra, Barcelona, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kalaydjieva</LastName><ForeName>Luba</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Perth, WA, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Quintana-Murci</LastName><ForeName>Lluis</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Unit of Human Evolutionary Genetics, Department of Genomes and Genetics, Institut Pasteur, Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>CNRS URA3012, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Comas</LastName><ForeName>David</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Departament de Ciències Experimentals i de la Salut, Institut de Biologia Evolutiva (CSIC-UPF), Universitat Pompeu Fabra, Barcelona, Spain.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><Agency>Wellcome Trust</Agency><Country>United 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MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005060" MajorTopicYN="N">Europe</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D018703" MajorTopicYN="Y">Founder Effect</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D018740" MajorTopicYN="N">Genetic Heterogeneity</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D015894" MajorTopicYN="N">Genome, Human</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D063426" MajorTopicYN="N">Human Migration</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="Y">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D011110" MajorTopicYN="N">Polymorphism, Genetic</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006178" MajorTopicYN="N">Roma</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading></MeshHeadingList><OtherID Source="NLM">PMC4867443 [Available on 06/01/17]</OtherID></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2015</Year><Month>02</Month><Day>02</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2015</Year><Month>07</Month><Day>20</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2015</Year><Month>08</Month><Day>11</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2015</Year><Month>9</Month><Day>17</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2015</Year><Month>9</Month><Day>17</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2017</Year><Month>7</Month><Day>27</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">26374132</ArticleId><ArticleId IdType="pii">ejhg2015201</ArticleId><ArticleId IdType="doi">10.1038/ejhg.2015.201</ArticleId><ArticleId IdType="pmc">PMC4867443</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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