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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Strong Maternal Khoisan Contribution to the South African Coloured Population: A Case of Gender-Biased Admixture</title>
<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, Human Evolutionary Genetics, Department of Genomes and Genetics, F-75015 Paris, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff2">Centre National de la Récherche Scièntifique, URA3012, F-75015 Paris, France</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, Human Evolutionary Genetics, Department of Genomes and Genetics, F-75015 Paris, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff2">Centre National de la Récherche Scièntifique, URA3012, F-75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Quach, Helene" sort="Quach, Helene" uniqKey="Quach H" first="Hélène" last="Quach">Hélène Quach</name>
<affiliation><nlm:aff id="aff1">Institut Pasteur, Human Evolutionary Genetics, Department of Genomes and Genetics, F-75015 Paris, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff2">Centre National de la Récherche Scièntifique, URA3012, F-75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Balanovsky, Oleg" sort="Balanovsky, Oleg" uniqKey="Balanovsky O" first="Oleg" last="Balanovsky">Oleg Balanovsky</name>
<affiliation><nlm:aff id="aff3">Research Centre for Medical Genetics, Russian Academy of Medical Sciences, 115478 Moscow, Russia</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Zaporozhchenko, Valery" sort="Zaporozhchenko, Valery" uniqKey="Zaporozhchenko V" first="Valery" last="Zaporozhchenko">Valery Zaporozhchenko</name>
<affiliation><nlm:aff id="aff3">Research Centre for Medical Genetics, Russian Academy of Medical Sciences, 115478 Moscow, Russia</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Bormans, Connie" sort="Bormans, Connie" uniqKey="Bormans C" first="Connie" last="Bormans">Connie Bormans</name>
<affiliation><nlm:aff id="aff4">Genomics Research Center, Family Tree DNA, Houston, Texas 77008, USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Van Helden, Paul D" sort="Van Helden, Paul D" uniqKey="Van Helden P" first="Paul D." last="Van Helden">Paul D. Van Helden</name>
<affiliation><nlm:aff id="aff5">Molecular Biology and Human Genetics, Medical Research Council Centre for Molecular and Cellular Biology, Faculty of Health Sciences, Stellenbosch University, Tygerberg, South Africa</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hoal, Eileen G" sort="Hoal, Eileen G" uniqKey="Hoal E" first="Eileen G." last="Hoal">Eileen G. Hoal</name>
<affiliation><nlm:aff id="aff5">Molecular Biology and Human Genetics, Medical Research Council Centre for Molecular and Cellular Biology, Faculty of Health Sciences, Stellenbosch University, Tygerberg, South Africa</nlm:aff>
</affiliation>
</author>
<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, Human Evolutionary Genetics, Department of Genomes and Genetics, F-75015 Paris, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff6">Molecular Medicine Laboratory, Rambam Health Care Campus, Haifa 31096, Israel</nlm:aff>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">20346436</idno>
<idno type="pmc">2850426</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2850426</idno>
<idno type="RBID">PMC:2850426</idno>
<idno type="doi">10.1016/j.ajhg.2010.02.014</idno>
<date when="2010">2010</date>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Strong Maternal Khoisan Contribution to the South African Coloured Population: A Case of Gender-Biased Admixture</title>
<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, Human Evolutionary Genetics, Department of Genomes and Genetics, F-75015 Paris, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff2">Centre National de la Récherche Scièntifique, URA3012, F-75015 Paris, France</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, Human Evolutionary Genetics, Department of Genomes and Genetics, F-75015 Paris, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff2">Centre National de la Récherche Scièntifique, URA3012, F-75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Quach, Helene" sort="Quach, Helene" uniqKey="Quach H" first="Hélène" last="Quach">Hélène Quach</name>
<affiliation><nlm:aff id="aff1">Institut Pasteur, Human Evolutionary Genetics, Department of Genomes and Genetics, F-75015 Paris, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff2">Centre National de la Récherche Scièntifique, URA3012, F-75015 Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Balanovsky, Oleg" sort="Balanovsky, Oleg" uniqKey="Balanovsky O" first="Oleg" last="Balanovsky">Oleg Balanovsky</name>
<affiliation><nlm:aff id="aff3">Research Centre for Medical Genetics, Russian Academy of Medical Sciences, 115478 Moscow, Russia</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Zaporozhchenko, Valery" sort="Zaporozhchenko, Valery" uniqKey="Zaporozhchenko V" first="Valery" last="Zaporozhchenko">Valery Zaporozhchenko</name>
<affiliation><nlm:aff id="aff3">Research Centre for Medical Genetics, Russian Academy of Medical Sciences, 115478 Moscow, Russia</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Bormans, Connie" sort="Bormans, Connie" uniqKey="Bormans C" first="Connie" last="Bormans">Connie Bormans</name>
<affiliation><nlm:aff id="aff4">Genomics Research Center, Family Tree DNA, Houston, Texas 77008, USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Van Helden, Paul D" sort="Van Helden, Paul D" uniqKey="Van Helden P" first="Paul D." last="Van Helden">Paul D. Van Helden</name>
<affiliation><nlm:aff id="aff5">Molecular Biology and Human Genetics, Medical Research Council Centre for Molecular and Cellular Biology, Faculty of Health Sciences, Stellenbosch University, Tygerberg, South Africa</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hoal, Eileen G" sort="Hoal, Eileen G" uniqKey="Hoal E" first="Eileen G." last="Hoal">Eileen G. Hoal</name>
<affiliation><nlm:aff id="aff5">Molecular Biology and Human Genetics, Medical Research Council Centre for Molecular and Cellular Biology, Faculty of Health Sciences, Stellenbosch University, Tygerberg, South Africa</nlm:aff>
</affiliation>
</author>
<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, Human Evolutionary Genetics, Department of Genomes and Genetics, F-75015 Paris, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff6">Molecular Medicine Laboratory, Rambam Health Care Campus, Haifa 31096, Israel</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="2010">2010</date>
</imprint>
</series>
</biblStruct>
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<front><div type="abstract" xml:lang="en"><p>The study of recently admixed populations provides unique tools for understanding recent population dynamics, socio-cultural factors associated with the founding of emerging populations, and the genetic basis of disease by means of admixture mapping. Historical records and recent autosomal data indicate that the South African Coloured population forms a unique highly admixed population, resulting from the encounter of different peoples from Africa, Europe, and Asia. However, little is known about the mode by which this admixed population was recently founded. Here we show, through detailed phylogeographic analyses of mitochondrial DNA and Y-chromosome variation in a large sample of South African Coloured individuals, that this population derives from at least five different parental populations (Khoisan, Bantus, Europeans, Indians, and Southeast Asians), who have differently contributed to the foundation of the South African Coloured. In addition, our analyses reveal extraordinarily unbalanced gender-specific contributions of the various population genetic components, the most striking being the massive maternal contribution of Khoisan peoples (more than 60%) and the almost negligible maternal contribution of Europeans with respect to their paternal counterparts. The overall picture of gender-biased admixture depicted in this study indicates that the modern South African Coloured population results mainly from the early encounter of European and African males with autochthonous Khoisan females of the Cape of Good Hope around 350 years ago.</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-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">20346436</article-id>
<article-id pub-id-type="pmc">2850426</article-id>
<article-id pub-id-type="publisher-id">AJHG602</article-id>
<article-id pub-id-type="doi">10.1016/j.ajhg.2010.02.014</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Report</subject>
</subj-group>
</article-categories>
<title-group><article-title>Strong Maternal Khoisan Contribution to the South African Coloured Population: A Case of Gender-Biased Admixture</article-title>
</title-group>
<contrib-group><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="aff2" ref-type="aff">2</xref>
<xref rid="cor1" ref-type="corresp">∗</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="aff2" ref-type="aff">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Quach</surname>
<given-names>Hélène</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>Balanovsky</surname>
<given-names>Oleg</given-names>
</name>
<xref rid="aff3" ref-type="aff">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Zaporozhchenko</surname>
<given-names>Valery</given-names>
</name>
<xref rid="aff3" ref-type="aff">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bormans</surname>
<given-names>Connie</given-names>
</name>
<xref rid="aff4" ref-type="aff">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>van Helden</surname>
<given-names>Paul D.</given-names>
</name>
<xref rid="aff5" ref-type="aff">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hoal</surname>
<given-names>Eileen G.</given-names>
</name>
<xref rid="aff5" ref-type="aff">5</xref>
</contrib>
<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="aff6" ref-type="aff">6</xref>
</contrib>
</contrib-group>
<aff id="aff1"><label>1</label>
Institut Pasteur, Human Evolutionary Genetics, Department of Genomes and Genetics, F-75015 Paris, France</aff>
<aff id="aff2"><label>2</label>
Centre National de la Récherche Scièntifique, URA3012, F-75015 Paris, France</aff>
<aff id="aff3"><label>3</label>
Research Centre for Medical Genetics, Russian Academy of Medical Sciences, 115478 Moscow, Russia</aff>
<aff id="aff4"><label>4</label>
Genomics Research Center, Family Tree DNA, Houston, Texas 77008, USA</aff>
<aff id="aff5"><label>5</label>
Molecular Biology and Human Genetics, Medical Research Council Centre for Molecular and Cellular Biology, Faculty of Health Sciences, Stellenbosch University, Tygerberg, South Africa</aff>
<aff id="aff6"><label>6</label>
Molecular Medicine Laboratory, Rambam Health Care Campus, Haifa 31096, Israel</aff>
<author-notes><corresp id="cor1"><label>∗</label>
Corresponding author <email>quintana@pasteur.fr</email>
</corresp>
</author-notes>
<pub-date pub-type="ppub"><day>09</day>
<month>4</month>
<year>2010</year>
</pub-date>
<volume>86</volume>
<issue>4</issue>
<fpage>611</fpage>
<lpage>620</lpage>
<history><date date-type="received"><day>5</day>
<month>1</month>
<year>2010</year>
</date>
<date date-type="rev-recd"><day>27</day>
<month>1</month>
<year>2010</year>
</date>
<date date-type="accepted"><day>15</day>
<month>2</month>
<year>2010</year>
</date>
</history>
<permissions><copyright-statement>© 2010 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved.</copyright-statement>
<copyright-year>2010</copyright-year>
<copyright-holder>The American Society of Human Genetics</copyright-holder>
<license><license-p>This document may be redistributed and reused, subject to <ext-link ext-link-type="uri" xlink:href="http://www.elsevier.com/wps/find/authorsview.authors/supplementalterms1.0">certain conditions</ext-link>
.</license-p>
</license>
</permissions>
<abstract><p>The study of recently admixed populations provides unique tools for understanding recent population dynamics, socio-cultural factors associated with the founding of emerging populations, and the genetic basis of disease by means of admixture mapping. Historical records and recent autosomal data indicate that the South African Coloured population forms a unique highly admixed population, resulting from the encounter of different peoples from Africa, Europe, and Asia. However, little is known about the mode by which this admixed population was recently founded. Here we show, through detailed phylogeographic analyses of mitochondrial DNA and Y-chromosome variation in a large sample of South African Coloured individuals, that this population derives from at least five different parental populations (Khoisan, Bantus, Europeans, Indians, and Southeast Asians), who have differently contributed to the foundation of the South African Coloured. In addition, our analyses reveal extraordinarily unbalanced gender-specific contributions of the various population genetic components, the most striking being the massive maternal contribution of Khoisan peoples (more than 60%) and the almost negligible maternal contribution of Europeans with respect to their paternal counterparts. The overall picture of gender-biased admixture depicted in this study indicates that the modern South African Coloured population results mainly from the early encounter of European and African males with autochthonous Khoisan females of the Cape of Good Hope around 350 years ago.</p>
</abstract>
</article-meta>
</front>
</pmc>
</record>
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