Structural Diversity and African Origin of the 17q21.31 Inversion Polymorphism
Identifieur interne : 000F24 ( Ncbi/Merge ); précédent : 000F23; suivant : 000F25Structural Diversity and African Origin of the 17q21.31 Inversion Polymorphism
Auteurs : Karyn Meltz Steinberg [États-Unis] ; Francesca Antonacci [États-Unis] ; Peter H. Sudmant [États-Unis] ; Jeffrey M. Kidd [États-Unis] ; Catarina D. Campbell [États-Unis] ; Laura Vives [États-Unis] ; Maika Malig [États-Unis] ; Laura Scheinfeldt [États-Unis] ; William Beggs [États-Unis] ; Muntaser Ibrahim [Soudan] ; Godfrey Lema [Tanzanie] ; Thomas B. Nyambo [Tanzanie] ; Sabah A. Omar [Kenya] ; Jean-Marie Bodo [France] ; Alain Froment [Cameroun] ; Michael P. Donnelly [États-Unis] ; Kenneth K. Kidd [États-Unis] ; Sarah A. Tishkoff [États-Unis] ; Evan E. Eichler [États-Unis]Source :
- Nature genetics [ 1061-4036 ] ; 2012.
Abstract
The 17q21.31 inversion polymorphism exists either as direct (H1) or inverted (H2) haplotypes with differential predispositions to disease and selection. We investigated its genetic diversity in 2700 individuals with an emphasis on African populations. We characterize eight structural haplotypes that vary in size from 1.08 to 1.49 Mbp as a result of complex rearrangements and provide evidence for a 30 kbp H1/H2 double recombination event. We show that recurrent partial duplications of the
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DOI: 10.1038/ng.2335
PubMed: 22751100
PubMed Central: 3408829
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Sudmant</name><affiliation wicri:level="2"><nlm:aff id="A1">Department of Genome Sciences, University of Washington, Seattle, WA 98195</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Washington (État)</region></placeName><wicri:cityArea>Department of Genome Sciences, University of Washington, Seattle</wicri:cityArea></affiliation></author><author><name sortKey="Kidd, Jeffrey M" sort="Kidd, Jeffrey M" uniqKey="Kidd J" first="Jeffrey M." last="Kidd">Jeffrey M. Kidd</name><affiliation wicri:level="2"><nlm:aff id="A1">Department of Genome Sciences, University of Washington, Seattle, WA 98195</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Washington (État)</region></placeName><wicri:cityArea>Department of Genome Sciences, University of Washington, Seattle</wicri:cityArea></affiliation></author><author><name sortKey="Campbell, Catarina D" sort="Campbell, Catarina D" uniqKey="Campbell C" first="Catarina D." last="Campbell">Catarina D. Campbell</name><affiliation wicri:level="2"><nlm:aff id="A1">Department of Genome Sciences, University of Washington, Seattle, WA 98195</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Washington (État)</region></placeName><wicri:cityArea>Department of Genome Sciences, University of Washington, Seattle</wicri:cityArea></affiliation></author><author><name sortKey="Vives, Laura" sort="Vives, Laura" uniqKey="Vives L" first="Laura" last="Vives">Laura Vives</name><affiliation wicri:level="2"><nlm:aff id="A1">Department of Genome Sciences, University of Washington, Seattle, WA 98195</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Washington (État)</region></placeName><wicri:cityArea>Department of Genome Sciences, University of Washington, Seattle</wicri:cityArea></affiliation></author><author><name sortKey="Malig, Maika" sort="Malig, Maika" uniqKey="Malig M" first="Maika" last="Malig">Maika Malig</name><affiliation wicri:level="2"><nlm:aff id="A1">Department of Genome Sciences, University of Washington, Seattle, WA 98195</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Washington (État)</region></placeName><wicri:cityArea>Department of Genome Sciences, University of Washington, Seattle</wicri:cityArea></affiliation></author><author><name sortKey="Scheinfeldt, Laura" sort="Scheinfeldt, Laura" uniqKey="Scheinfeldt L" first="Laura" last="Scheinfeldt">Laura Scheinfeldt</name><affiliation wicri:level="2"><nlm:aff id="A2">Department of Genetics and Biology, University of Pennsylvania, Philadelphia, PA 19104</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Department of Genetics and Biology, University of Pennsylvania, Philadelphia</wicri:cityArea></affiliation></author><author><name sortKey="Beggs, William" sort="Beggs, William" uniqKey="Beggs W" first="William" last="Beggs">William Beggs</name><affiliation wicri:level="2"><nlm:aff id="A2">Department of Genetics and Biology, University of Pennsylvania, Philadelphia, PA 19104</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Department of Genetics and Biology, University of Pennsylvania, Philadelphia</wicri:cityArea></affiliation></author><author><name sortKey="Ibrahim, Muntaser" sort="Ibrahim, Muntaser" uniqKey="Ibrahim M" first="Muntaser" last="Ibrahim">Muntaser Ibrahim</name><affiliation wicri:level="1"><nlm:aff id="A3">Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, 15-Khartoum, Sudan</nlm:aff><country xml:lang="fr">Soudan</country><wicri:regionArea>Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, 15-Khartoum</wicri:regionArea><wicri:noRegion>15-Khartoum</wicri:noRegion></affiliation></author><author><name sortKey="Lema, Godfrey" sort="Lema, Godfrey" uniqKey="Lema G" first="Godfrey" last="Lema">Godfrey Lema</name><affiliation wicri:level="1"><nlm:aff id="A4">Department of Biochemistry, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania</nlm:aff><country xml:lang="fr">Tanzanie</country><wicri:regionArea>Department of Biochemistry, Muhimbili University of Health and Allied Sciences, Dar es Salaam</wicri:regionArea><wicri:noRegion>Dar es Salaam</wicri:noRegion></affiliation></author><author><name sortKey="Nyambo, Thomas B" sort="Nyambo, Thomas B" uniqKey="Nyambo T" first="Thomas B." last="Nyambo">Thomas B. Nyambo</name><affiliation wicri:level="1"><nlm:aff id="A4">Department of Biochemistry, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania</nlm:aff><country xml:lang="fr">Tanzanie</country><wicri:regionArea>Department of Biochemistry, Muhimbili University of Health and Allied Sciences, Dar es Salaam</wicri:regionArea><wicri:noRegion>Dar es Salaam</wicri:noRegion></affiliation></author><author><name sortKey="Omar, Sabah A" sort="Omar, Sabah A" uniqKey="Omar S" first="Sabah A." last="Omar">Sabah A. Omar</name><affiliation wicri:level="1"><nlm:aff id="A5">Kenya Medical Research Institute, Center for Biotechnology Research and Development, 54840-00200 Nairobi, Kenya</nlm:aff><country xml:lang="fr">Kenya</country><wicri:regionArea>Kenya Medical Research Institute, Center for Biotechnology Research and Development, 54840-00200 Nairobi</wicri:regionArea><wicri:noRegion>54840-00200 Nairobi</wicri:noRegion></affiliation></author><author><name sortKey="Bodo, Jean Marie" sort="Bodo, Jean Marie" uniqKey="Bodo J" first="Jean-Marie" last="Bodo">Jean-Marie Bodo</name><affiliation wicri:level="3"><nlm:aff id="A6">Unité mixte de recherche (UMR) 208, IRD-MNHN, Musée de l’Homme, 75116 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Unité mixte de recherche (UMR) 208, IRD-MNHN, Musée de l’Homme, 75116 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Froment, Alain" sort="Froment, Alain" uniqKey="Froment A" first="Alain" last="Froment">Alain Froment</name><affiliation wicri:level="1"><nlm:aff id="A7">Ministère de la Recherche Scientifique et de l’Innovation, BP 1457, Yaoundé, Cameroon</nlm:aff><country xml:lang="fr">Cameroun</country><wicri:regionArea>Ministère de la Recherche Scientifique et de l’Innovation, BP 1457, Yaoundé</wicri:regionArea><wicri:noRegion>Yaoundé</wicri:noRegion></affiliation></author><author><name sortKey="Donnelly, Michael P" sort="Donnelly, Michael P" uniqKey="Donnelly M" first="Michael P." last="Donnelly">Michael P. Donnelly</name><affiliation wicri:level="2"><nlm:aff id="A8">Department of Genetics, Yale University, New Haven, CT 06520</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Connecticut</region></placeName><wicri:cityArea>Department of Genetics, Yale University, New Haven</wicri:cityArea></affiliation></author><author><name sortKey="Kidd, Kenneth K" sort="Kidd, Kenneth K" uniqKey="Kidd K" first="Kenneth K." last="Kidd">Kenneth K. Kidd</name><affiliation wicri:level="2"><nlm:aff id="A8">Department of Genetics, Yale University, New Haven, CT 06520</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Connecticut</region></placeName><wicri:cityArea>Department of Genetics, Yale University, New Haven</wicri:cityArea></affiliation></author><author><name sortKey="Tishkoff, Sarah A" sort="Tishkoff, Sarah A" uniqKey="Tishkoff S" first="Sarah A." last="Tishkoff">Sarah A. Tishkoff</name><affiliation wicri:level="2"><nlm:aff id="A2">Department of Genetics and Biology, University of Pennsylvania, Philadelphia, PA 19104</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Department of Genetics and Biology, University of Pennsylvania, Philadelphia</wicri:cityArea></affiliation></author><author><name sortKey="Eichler, Evan E" sort="Eichler, Evan E" uniqKey="Eichler E" first="Evan E." last="Eichler">Evan E. Eichler</name><affiliation wicri:level="2"><nlm:aff id="A1">Department of Genome Sciences, University of Washington, Seattle, WA 98195</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Washington (État)</region></placeName><wicri:cityArea>Department of Genome Sciences, University of Washington, Seattle</wicri:cityArea></affiliation><affiliation wicri:level="2"><nlm:aff id="A9">Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Washington (État)</region></placeName><wicri:cityArea>Howard Hughes Medical Institute, University of Washington, Seattle</wicri:cityArea></affiliation></author></analytic><series><title level="j">Nature genetics</title><idno type="ISSN">1061-4036</idno><idno type="eISSN">1546-1718</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 id="P1">The 17q21.31 inversion polymorphism exists either as direct (H1) or inverted (H2) haplotypes with differential predispositions to disease and selection. We investigated its genetic diversity in 2700 individuals with an emphasis on African populations. We characterize eight structural haplotypes that vary in size from 1.08 to 1.49 Mbp as a result of complex rearrangements and provide evidence for a 30 kbp H1/H2 double recombination event. We show that recurrent partial duplications of the <italic>KANSL1</italic> (previously known as <italic>KIAA1267</italic>) gene have occurred on both H1 and H2 haplotypes and risen to high frequency in European populations. We identify a likely ancestral H2 haplotype (H2′) lacking these duplications, enriched among African hunter-gatherer groups yet essentially absent from West Africans populations. While H1 and H2 segmental duplications arose independently and prior to the human migration out of Africa, they have reached high frequencies recently among Europeans either due to extraordinary genetic drift or selective sweeps.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Dobzhansky, T" uniqKey="Dobzhansky T">T Dobzhansky</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Dobzhansky, T" uniqKey="Dobzhansky T">T Dobzhansky</name></author><author><name sortKey="Sturtevant, Ah" uniqKey="Sturtevant A">AH Sturtevant</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Lowry, Db" uniqKey="Lowry D">DB Lowry</name></author><author><name sortKey="Willis, Jh" uniqKey="Willis J">JH Willis</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Tuzun, E" uniqKey="Tuzun E">E 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<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">9216904</journal-id><journal-id journal-id-type="pubmed-jr-id">2419</journal-id><journal-id journal-id-type="nlm-ta">Nat Genet</journal-id><journal-id journal-id-type="iso-abbrev">Nat. Genet.</journal-id><journal-title-group><journal-title>Nature genetics</journal-title></journal-title-group><issn pub-type="ppub">1061-4036</issn><issn pub-type="epub">1546-1718</issn></journal-meta><article-meta><article-id pub-id-type="pmid">22751100</article-id><article-id pub-id-type="pmc">3408829</article-id><article-id pub-id-type="doi">10.1038/ng.2335</article-id><article-id pub-id-type="manuscript">NIHMS382863</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Structural Diversity and African Origin of the 17q21.31 Inversion Polymorphism</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Steinberg</surname><given-names>Karyn Meltz</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref rid="FN2" ref-type="author-notes">*</xref></contrib><contrib contrib-type="author"><name><surname>Antonacci</surname><given-names>Francesca</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref rid="FN2" ref-type="author-notes">*</xref></contrib><contrib contrib-type="author"><name><surname>Sudmant</surname><given-names>Peter H.</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Kidd</surname><given-names>Jeffrey M.</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref rid="FN3" ref-type="author-notes">10</xref></contrib><contrib contrib-type="author"><name><surname>Campbell</surname><given-names>Catarina D.</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Vives</surname><given-names>Laura</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Malig</surname><given-names>Maika</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Scheinfeldt</surname><given-names>Laura</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Beggs</surname><given-names>William</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Ibrahim</surname><given-names>Muntaser</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Lema</surname><given-names>Godfrey</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Nyambo</surname><given-names>Thomas B.</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Omar</surname><given-names>Sabah A.</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Bodo</surname><given-names>Jean-Marie</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Froment</surname><given-names>Alain</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Donnelly</surname><given-names>Michael P.</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Kidd</surname><given-names>Kenneth K.</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Tishkoff</surname><given-names>Sarah A.</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Eichler</surname><given-names>Evan E.</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A9">9</xref><xref rid="FN1" ref-type="author-notes">11</xref></contrib></contrib-group><aff id="A1"><label>1</label>Department of Genome Sciences, University of Washington, Seattle, WA 98195</aff><aff id="A2"><label>2</label>Department of Genetics and Biology, University of Pennsylvania, Philadelphia, PA 19104</aff><aff id="A3"><label>3</label>Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, 15-Khartoum, Sudan</aff><aff id="A4"><label>4</label>Department of Biochemistry, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania</aff><aff id="A5"><label>5</label>Kenya Medical Research Institute, Center for Biotechnology Research and Development, 54840-00200 Nairobi, Kenya</aff><aff id="A6"><label>6</label>Unité mixte de recherche (UMR) 208, IRD-MNHN, Musée de l’Homme, 75116 Paris, France</aff><aff id="A7"><label>7</label>Ministère de la Recherche Scientifique et de l’Innovation, BP 1457, Yaoundé, Cameroon</aff><aff id="A8"><label>8</label>Department of Genetics, Yale University, New Haven, CT 06520</aff><aff id="A9"><label>9</label>Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195</aff><author-notes><corresp id="FN1"><label>11</label>To whom correspondence should be addressed: <email>eee@gs.washington.edu</email></corresp><fn id="FN2" fn-type="equal"><label>*</label><p>These authors contributed equally to this work</p></fn><fn id="FN3" fn-type="present-address"><label>10</label><p>Present address: Departments of Human Genetics and Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI 48109</p></fn></author-notes><pub-date pub-type="nihms-submitted"><day>27</day><month>6</month><year>2012</year></pub-date><pub-date pub-type="epub"><day>01</day><month>7</month><year>2012</year></pub-date><pub-date pub-type="collection"><month>8</month><year>2012</year></pub-date><pub-date pub-type="pmc-release"><day>01</day><month>2</month><year>2013</year></pub-date><volume>44</volume><issue>8</issue><fpage>872</fpage><lpage>880</lpage><pmc-comment>elocation-id from pubmed: 10.1038/ng.2335</pmc-comment>
<permissions><license><license-p>Users may view, print, copy, download and text and data- mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:
<uri xlink:type="simple" xlink:href="http://www.nature.com/authors/editorial_policies/license.html#terms">http://www.nature.com/authors/editorial_policies/license.html#terms</uri></license-p></license></permissions><abstract><p id="P1">The 17q21.31 inversion polymorphism exists either as direct (H1) or inverted (H2) haplotypes with differential predispositions to disease and selection. We investigated its genetic diversity in 2700 individuals with an emphasis on African populations. We characterize eight structural haplotypes that vary in size from 1.08 to 1.49 Mbp as a result of complex rearrangements and provide evidence for a 30 kbp H1/H2 double recombination event. We show that recurrent partial duplications of the <italic>KANSL1</italic> (previously known as <italic>KIAA1267</italic>) gene have occurred on both H1 and H2 haplotypes and risen to high frequency in European populations. We identify a likely ancestral H2 haplotype (H2′) lacking these duplications, enriched among African hunter-gatherer groups yet essentially absent from West Africans populations. While H1 and H2 segmental duplications arose independently and prior to the human migration out of Africa, they have reached high frequencies recently among Europeans either due to extraordinary genetic drift or selective sweeps.</p></abstract></article-meta></front><floats-group><fig id="F1" orientation="portrait" position="float"><label>Figure 1</label><caption><title>Duplication architecture of 17q21.31</title><p><bold>(a)</bold> Frequency of haplotypes (H2D, H1D) carrying duplications (CNP155 and CNP205) and those not carrying duplications (ND) are shown for three major continental groups (Africans, Asians, and Europeans) based on analysis of 620 individuals. <bold>(b)</bold> Read-depth-based copy number estimates of the 17q21.31 region from 46 representative European genomes show different patterns of duplications for the <italic>KANSL1</italic> and <italic>NSF</italic> regions. Colors indicate the absolute copy number genome-wide for each given segment <sup><xref rid="R15" ref-type="bibr">15</xref></sup>. The heatmap is aligned to the H1 haplotype structure at the bottom (reference genome) where colored boxes indicate segmental duplications as described in Zody <italic>et al.</italic><sup><xref rid="R13" ref-type="bibr">13</xref></sup>, and the black line represents single-copy regions. The heatmap distinguishes genotypes for a 205 kbp copy-number polymorphism (CNP205) associated with H2D, a 155 kbp polymorphism (CNP155) associated with H1D, and copy-number variation of a 210 kbp segment of <italic>NSF</italic>, which ranges from 2–8 copies (CNP210). Note that CNP205 and CNP155 have a diploid copy number of two in the reference genome assembly (shown at the bottom) and CNP210 has instead a diploid copy number of four. <bold>(c)</bold> Population stratification of duplicated alleles. CNP155 and CNP205 show increased allele frequency (23.1% and 19.6%, respectively) among Europeans; CNP210 shows a significant increase in copy number among Asians, compared to Europeans and Africans.</p></caption><graphic xlink:href="nihms382863f1"></graphic></fig><fig id="F2" orientation="portrait" position="float"><label>Figure 2</label><caption><title>Alternative structural haplotypes of 17q21.31</title><p><bold>(a)</bold> FISH cohybridization experiments using probes mapping to CNP155/CNP205 (WIBR2-2342H02 in green), <italic>NSF</italic> CNP210 duplication (WIBR2-1321L07 in red), and at the single-copy region (WIBR2-3237D21 in blue) are shown. <bold>(b)</bold> Shown are eight distinct structural haplotypes (five H1 and three H2) ranging in size from 1.08 to 1.49 Mbp. Colored boxes indicate segmental duplications as determined by complete sequencing of large-insert BAC clones by Zody <italic>et al.</italic><sup><xref rid="R13" ref-type="bibr">13</xref></sup>. Hashed boxes correspond to regions present in single copy in that specific haplotype but duplicated in others. The locations of three core duplicons mapping in close proximity to the inversion breakpoints are shown. These represent some of the most abundant and rapidly evolving duplicated sequences in the human genome <sup><xref rid="R49" ref-type="bibr">49</xref></sup>. The duplication content for each haplotype is indicated in parentheses. Four main haplotypes are defined based on <italic>KANSL1</italic> copy number and on the length of the duplication (Boettger et al. <sup><xref rid="R20" ref-type="bibr">20</xref></sup> nomenclature in parentheses): H1′ (direct haplotype) and H2′ (inverted haplotype) with one copy each of <italic>KANSL1</italic>, H1D (H1.β2.γ1) with a long duplication of the gene, and H2D (H2.α2.γ2) with a short duplication. H1′ configurations with one copy of <italic>NSF</italic> are defined as H1.1 (H1.β1.γ1), with two copies as H1.2 (H1.β1.γ2), and with three copies as H1.3 (H1.β1.γ3). H1D configurations with three copies of the long duplication are defined as H1D.3 (H1.β3.γ1). Similarly, H2′ configurations with one copy of <italic>NSF</italic> are defined as H2.1 and with two copies as H2.2 (H2.α1.γ2).</p></caption><graphic xlink:href="nihms382863f2"></graphic></fig><fig id="F3" orientation="portrait" position="float"><label>Figure 3</label><caption><title>Haplotype frequency of 17q21.31 inversion in Africa</title><p>Frequency of direct (H1), inverted (H2′), and inverted with duplication (H2D) haplotypes in 818 individuals (1636 chromosomes) from 23 African populations. The H2′ haplotype is absent from virtually all Western African individuals except for the Pygmy populations (Bakola, Biaka, and Mbuti). The H2′ haplotype frequency is highest in the Beja from Sudan likely due to admixture from neighboring Middle Eastern countries. The inversion is also at appreciable frequencies in the other hunter-gatherer populations (San, Hadza, Sandawe, Boni, and Sengwer).</p></caption><graphic xlink:href="nihms382863f3"></graphic></fig><fig id="F4" orientation="portrait" position="float"><label>Figure 4</label><caption><title>Phylogenetic relationship between H1 and H2 haplotypes</title><p><bold>(a)</bold> Alignment of 43 SNPs from a 136 kbp LD block within the inversion region (chr17:41466118-41602794, NCBI build36) from HapMap individuals (total N = 728 individuals; 1456 chromosomes) were used to build a maximum likelihood tree with 1000 bootstrap replicates (all branches with 100% bootstrap support). <bold>(b)</bold> An unrooted neighbor-joining tree was constructed using MEGA4 <sup><xref rid="R50" ref-type="bibr">50</xref></sup> complete deletion option based on 204,447 aligned base pairs from unique sequence within the inversion. The number of mutations for each branch is indicated above the branch. African individuals are highlighted in red and Europeans are highlighted in blue.</p></caption><graphic xlink:href="nihms382863f4"></graphic></fig><fig id="F5" orientation="portrait" position="float"><label>Figure 5</label><caption><title>Historical exchange between H1 and H2 haplotypes</title><p><bold>(a)</bold> Divergence plotted in 5 kbp sliding windows. A 30 kbp region (chr17:41213364-41248960, middle red bar) of reduced divergence over the 5′ end of <italic>CRHR1</italic> is revealed. The spike in divergence at 41.35 Mbp corresponds to a simple TATA repeat tract. Median-joining haplotype networks based on the HapMap collection for <bold>(b)</bold> the region proximal to the 5′ end of <italic>CRHR1</italic> (chr17:41011056-41091056, far left red bar), <bold>(c)</bold> the region of reduced divergence, and <bold>(d)</bold> the region distal to the region of reduced divergence (chr17:41410073-41425073, far right red bar). The proportion of H1′ (blue), H1D (orange), H2′ (red), and H2D (green) haplotypes are shown. The haplotypes form distinct clades proximal and distal to the <italic>CRHR1</italic> region while over the region of reduced divergence the haplotypes are mixed creating a large haplogroup where H1 chromosomes have sequence similar to the H2 chromosomes. Red tick marks represent the number of mutations separating each haplogroup.</p></caption><graphic xlink:href="nihms382863f5"></graphic></fig><fig id="F6" orientation="portrait" position="float"><label>Figure 6</label><caption><title>Evolutionary history of 17q21.31 haplotypes</title><p>We propose a model where the H2′ haplotype represents the ancestral configuration of the 17q21.31 region in humans. Approximately 2.3 mya, the inversion toggled back to the direct orientation and spread to South Africa prior to the emergence of modern humans. The H2D duplication arose in Africa 1.3 mya, and the H1D duplication independently arose much more recently, approximately 250,000 years ago. The H1′ haplotype spread throughout Western Africa, and all haplotypes spread to the Middle East and Europe as part of the out-of-Africa migration.</p></caption><graphic xlink:href="nihms382863f6"></graphic></fig><table-wrap id="T1" position="float" orientation="landscape"><label>Table 1</label><caption><p>Frequencies of H1′, H2′, and H2D in 23 diverse African ethnic groups</p></caption><table frame="hsides" rules="groups"><thead><tr><th valign="middle" align="center" rowspan="1" colspan="1">Population</th><th valign="middle" align="center" rowspan="1" colspan="1">Country</th><th valign="middle" align="center" rowspan="1" colspan="1">Number of individuals</th><th valign="middle" align="center" rowspan="1" colspan="1">Frequency of H1′</th><th valign="middle" align="center" rowspan="1" colspan="1">Frequency of H2</th><th valign="middle" align="center" rowspan="1" colspan="1">Frequency of H2D</th><th valign="middle" align="center" rowspan="1" colspan="1">Subsistence Pattern</th><th valign="middle" align="center" rowspan="1" colspan="1">Language Family</th><th valign="middle" align="center" rowspan="1" colspan="1">Language Major Subgrouping</th><th valign="middle" align="center" rowspan="1" colspan="1">Reference</th></tr></thead><tbody><tr><td align="center" valign="top" rowspan="1" colspan="1">Bakola</td><td align="center" valign="top" rowspan="1" colspan="1">Cameroon</td><td align="center" valign="top" rowspan="1" colspan="1">19</td><td align="center" valign="top" rowspan="1" colspan="1">94.74%</td><td align="center" valign="top" rowspan="1" colspan="1">5.26%</td><td align="center" valign="top" rowspan="1" colspan="1">0.00%</td><td align="center" valign="top" rowspan="1" colspan="1">Hunter-gatherer</td><td align="center" valign="top" rowspan="1" colspan="1">Niger-Kordofanian</td><td align="center" valign="top" rowspan="1" colspan="1">Bantoid</td><td align="center" valign="top" rowspan="1" colspan="1">African Diversity Panel</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">Bantu_N.E.</td><td align="center" valign="top" rowspan="1" colspan="1">Kenya</td><td align="center" valign="top" rowspan="1" colspan="1">11</td><td align="center" valign="top" rowspan="1" colspan="1">100.00%</td><td align="center" valign="top" rowspan="1" colspan="1">0.00%</td><td align="center" valign="top" rowspan="1" colspan="1">0.00%</td><td align="center" valign="top" rowspan="1" colspan="1">Farmer</td><td align="center" valign="top" rowspan="1" colspan="1">Niger-Kordofanian</td><td align="center" valign="top" rowspan="1" colspan="1">Bantoid</td><td align="center" valign="top" rowspan="1" colspan="1">HGDP</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">Bantu_South</td><td align="center" valign="top" rowspan="1" colspan="1">South Africa</td><td align="center" valign="top" rowspan="1" colspan="1">8</td><td align="center" valign="top" rowspan="1" colspan="1">100.00%</td><td align="center" valign="top" rowspan="1" colspan="1">0.00%</td><td align="center" valign="top" rowspan="1" colspan="1">0.00%</td><td align="center" valign="top" rowspan="1" colspan="1">Farmer</td><td align="center" valign="top" rowspan="1" colspan="1">Niger-Kordofanian</td><td align="center" valign="top" rowspan="1" colspan="1">Bantoid</td><td align="center" valign="top" rowspan="1" colspan="1">HGDP</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">Beja</td><td align="center" valign="top" rowspan="1" colspan="1">Sudan</td><td align="center" valign="top" rowspan="1" colspan="1">18</td><td align="center" valign="top" rowspan="1" colspan="1">86.11%</td><td align="center" valign="top" rowspan="1" colspan="1">11.11%</td><td align="center" valign="top" rowspan="1" colspan="1">2.78%</td><td align="center" valign="top" rowspan="1" colspan="1">Herder</td><td align="center" valign="top" rowspan="1" colspan="1">Afroasiatic</td><td align="center" valign="top" rowspan="1" colspan="1">Cushitic</td><td align="center" valign="top" rowspan="1" colspan="1">African</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">Biaka</td><td align="center" valign="top" rowspan="1" colspan="1">Central African Republic</td><td align="center" valign="top" rowspan="1" colspan="1">23</td><td align="center" valign="top" rowspan="1" colspan="1">93.48%</td><td align="center" valign="top" rowspan="1" colspan="1">4.35%</td><td align="center" valign="top" rowspan="1" colspan="1">2.17%</td><td align="center" valign="top" rowspan="1" colspan="1">Hunter-gatherer</td><td align="center" valign="top" rowspan="1" colspan="1">Niger-Kordofanian</td><td align="center" valign="top" rowspan="1" colspan="1">Adamawa-Ubangi</td><td align="center" valign="top" rowspan="1" colspan="1">HGDP, H2 Diversity Panel</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">Boni</td><td align="center" valign="top" rowspan="1" colspan="1">Kenya</td><td align="center" valign="top" rowspan="1" colspan="1">18</td><td align="center" valign="top" rowspan="1" colspan="1">92.11%</td><td align="center" valign="top" rowspan="1" colspan="1">0.00%</td><td align="center" valign="top" rowspan="1" colspan="1">7.89%</td><td align="center" valign="top" rowspan="1" colspan="1">Hunter-gatherer</td><td align="center" valign="top" rowspan="1" colspan="1">Afroasiatic</td><td align="center" valign="top" rowspan="1" colspan="1">Cushitic</td><td align="center" valign="top" rowspan="1" colspan="1">African Diversity Panel</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">Borana</td><td align="center" valign="top" rowspan="1" colspan="1">Kenya</td><td align="center" valign="top" rowspan="1" colspan="1">19</td><td align="center" valign="top" rowspan="1" colspan="1">97.37%</td><td align="center" valign="top" rowspan="1" colspan="1">0.00%</td><td align="center" valign="top" rowspan="1" colspan="1">2.63%</td><td align="center" valign="top" rowspan="1" colspan="1">Herder</td><td align="center" valign="top" rowspan="1" colspan="1">Afroasiatic</td><td align="center" valign="top" rowspan="1" colspan="1">Cushitic</td><td align="center" valign="top" rowspan="1" colspan="1">African Diversity Panel</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">Bulala</td><td align="center" valign="top" rowspan="1" colspan="1">Chad</td><td align="center" valign="top" rowspan="1" colspan="1">15</td><td align="center" valign="top" rowspan="1" colspan="1">100.00%</td><td align="center" valign="top" rowspan="1" colspan="1">0.00%</td><td align="center" valign="top" rowspan="1" colspan="1">0.00%</td><td align="center" valign="top" rowspan="1" colspan="1">Farmer</td><td align="center" valign="top" rowspan="1" colspan="1">Nilo-Saharan</td><td align="center" valign="top" rowspan="1" colspan="1">Central Sudanic</td><td align="center" valign="top" rowspan="1" colspan="1">African Diversity Panel</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">Datog</td><td align="center" valign="top" rowspan="1" colspan="1">Tanzania</td><td align="center" valign="top" rowspan="1" colspan="1">18</td><td align="center" valign="top" rowspan="1" colspan="1">91.67%</td><td align="center" valign="top" rowspan="1" colspan="1">5.56%</td><td align="center" valign="top" rowspan="1" colspan="1">2.78%</td><td align="center" valign="top" rowspan="1" colspan="1">Herder</td><td align="center" valign="top" rowspan="1" colspan="1">Nilo-Saharan</td><td align="center" valign="top" rowspan="1" colspan="1">Eastern Sudanic</td><td align="center" valign="top" rowspan="1" colspan="1">African Diversity Panel</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">Fulani</td><td align="center" valign="top" rowspan="1" colspan="1">Cameroon</td><td align="center" valign="top" rowspan="1" colspan="1">19</td><td align="center" valign="top" rowspan="1" colspan="1">100.00%</td><td align="center" valign="top" rowspan="1" colspan="1">0.00%</td><td align="center" valign="top" rowspan="1" colspan="1">0.00%</td><td align="center" valign="top" rowspan="1" colspan="1">Herder</td><td align="center" valign="top" rowspan="1" colspan="1">Niger-Kordofanian</td><td align="center" valign="top" rowspan="1" colspan="1">Senegambian</td><td align="center" valign="top" rowspan="1" colspan="1">African Diversity Panel</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">Hadza</td><td align="center" valign="top" rowspan="1" colspan="1">Tanzania</td><td align="center" valign="top" rowspan="1" colspan="1">36</td><td align="center" valign="top" rowspan="1" colspan="1">97.22%</td><td align="center" valign="top" rowspan="1" colspan="1">2.78%</td><td align="center" valign="top" rowspan="1" colspan="1">0.00%</td><td align="center" valign="top" rowspan="1" colspan="1">Hunter-gatherer</td><td align="center" valign="top" rowspan="1" colspan="1">Khoesan</td><td align="center" valign="top" rowspan="1" colspan="1">Hadza</td><td align="center" valign="top" rowspan="1" colspan="1">African Diversity Panel, Hunter-Gatherer</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">Iraqw</td><td align="center" valign="top" rowspan="1" colspan="1">Tanzania</td><td align="center" valign="top" rowspan="1" colspan="1">18</td><td align="center" valign="top" rowspan="1" colspan="1">97.22%</td><td align="center" valign="top" rowspan="1" colspan="1">0.00%</td><td align="center" valign="top" rowspan="1" colspan="1">2.78%</td><td align="center" valign="top" rowspan="1" colspan="1">Mixed farmer</td><td align="center" valign="top" rowspan="1" colspan="1">Afroasiatic</td><td align="center" valign="top" rowspan="1" colspan="1">Cushitic</td><td align="center" valign="top" rowspan="1" colspan="1">African Diversity Panel</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">Lemande</td><td align="center" valign="top" rowspan="1" colspan="1">Cameroon</td><td align="center" valign="top" rowspan="1" colspan="1">19</td><td align="center" valign="top" rowspan="1" colspan="1">100.00%</td><td align="center" valign="top" rowspan="1" colspan="1">0.00%</td><td align="center" valign="top" rowspan="1" colspan="1">0.00%</td><td align="center" valign="top" rowspan="1" colspan="1">Farmer</td><td align="center" valign="top" rowspan="1" colspan="1">Niger-Kordofanian</td><td align="center" valign="top" rowspan="1" colspan="1">Bantoid</td><td align="center" valign="top" rowspan="1" colspan="1">African Diversity Panel</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">Luhya</td><td align="center" valign="top" rowspan="1" colspan="1">Kenya</td><td align="center" valign="top" rowspan="1" colspan="1">101</td><td align="center" valign="top" rowspan="1" colspan="1">100.00%</td><td align="center" valign="top" rowspan="1" colspan="1">0.00%</td><td align="center" valign="top" rowspan="1" colspan="1">0.00%</td><td align="center" valign="top" rowspan="1" colspan="1">Farmer</td><td align="center" valign="top" rowspan="1" colspan="1">Niger-Kordofanian</td><td align="center" valign="top" rowspan="1" colspan="1">Bantoid</td><td align="center" valign="top" rowspan="1" colspan="1">HapMap, 1000 Genomes Project</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">Luo</td><td align="center" valign="top" rowspan="1" colspan="1">Kenya</td><td align="center" valign="top" rowspan="1" colspan="1">19</td><td align="center" valign="top" rowspan="1" colspan="1">100.00%</td><td align="center" valign="top" rowspan="1" colspan="1">0.00%</td><td align="center" valign="top" rowspan="1" colspan="1">0.00%</td><td align="center" valign="top" rowspan="1" colspan="1">Herder</td><td align="center" valign="top" rowspan="1" colspan="1">Niger-Kordofanian</td><td align="center" valign="top" rowspan="1" colspan="1">Bantoid</td><td align="center" valign="top" rowspan="1" colspan="1">African Diversity Panel</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">Maasai</td><td align="center" valign="top" rowspan="1" colspan="1">Kenya</td><td align="center" valign="top" rowspan="1" colspan="1">143</td><td align="center" valign="top" rowspan="1" colspan="1">92.66%</td><td align="center" valign="top" rowspan="1" colspan="1">2.45%</td><td align="center" valign="top" rowspan="1" colspan="1">4.90%</td><td align="center" valign="top" rowspan="1" colspan="1">Farmer</td><td align="center" valign="top" rowspan="1" colspan="1">Nilo-Saharan</td><td align="center" valign="top" rowspan="1" colspan="1">Eastern Sudanic</td><td align="center" valign="top" rowspan="1" colspan="1">HapMap</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">Mandenka</td><td align="center" valign="top" rowspan="1" colspan="1">Senegal</td><td align="center" valign="top" rowspan="1" colspan="1">22</td><td align="center" valign="top" rowspan="1" colspan="1">97.73%</td><td align="center" valign="top" rowspan="1" colspan="1">0.00%</td><td align="center" valign="top" rowspan="1" colspan="1">2.27%</td><td align="center" valign="top" rowspan="1" colspan="1">Herder</td><td align="center" valign="top" rowspan="1" colspan="1">Niger-Kordofanian</td><td align="center" valign="top" rowspan="1" colspan="1">Mande</td><td align="center" valign="top" rowspan="1" colspan="1">HGDP</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">Mandera</td><td align="center" valign="top" rowspan="1" colspan="1">Cameroon</td><td align="center" valign="top" rowspan="1" colspan="1">18</td><td align="center" valign="top" rowspan="1" colspan="1">100.00%</td><td align="center" valign="top" rowspan="1" colspan="1">0.00%</td><td align="center" valign="top" rowspan="1" colspan="1">0.00%</td><td align="center" valign="top" rowspan="1" colspan="1">Farmer</td><td align="center" valign="top" rowspan="1" colspan="1">Niger-Kordofanian</td><td align="center" valign="top" rowspan="1" colspan="1">Mande</td><td align="center" valign="top" rowspan="1" colspan="1">African Diversity Panel</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">Mbuti</td><td align="center" valign="top" rowspan="1" colspan="1">Democratic Republic of Congo</td><td align="center" valign="top" rowspan="1" colspan="1">13</td><td align="center" valign="top" rowspan="1" colspan="1">92.31%</td><td align="center" valign="top" rowspan="1" colspan="1">7.69%</td><td align="center" valign="top" rowspan="1" colspan="1">0.00%</td><td align="center" valign="top" rowspan="1" colspan="1">Hunter-gatherer</td><td align="center" valign="top" rowspan="1" colspan="1">Nilo-Saharan</td><td align="center" valign="top" rowspan="1" colspan="1">Central Sudanic</td><td align="center" valign="top" rowspan="1" colspan="1">African Diversity Panel, HGDP</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">San</td><td align="center" valign="top" rowspan="1" colspan="1">Namibia, South Africa</td><td align="center" valign="top" rowspan="1" colspan="1">40</td><td align="center" valign="top" rowspan="1" colspan="1">97.50%</td><td align="center" valign="top" rowspan="1" colspan="1">2.50%</td><td align="center" valign="top" rowspan="1" colspan="1">0.00%</td><td align="center" valign="top" rowspan="1" colspan="1">Hunter-gatherer</td><td align="center" valign="top" rowspan="1" colspan="1">Khoesan</td><td align="center" valign="top" rowspan="1" colspan="1">Southern</td><td align="center" valign="top" rowspan="1" colspan="1">HGDP, Bushman Collection, Hunter-Gatherer</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">Sandawe</td><td align="center" valign="top" rowspan="1" colspan="1">Tanzania</td><td align="center" valign="top" rowspan="1" colspan="1">46</td><td align="center" valign="top" rowspan="1" colspan="1">91.30%</td><td align="center" valign="top" rowspan="1" colspan="1">5.43%</td><td align="center" valign="top" rowspan="1" colspan="1">3.26%</td><td align="center" valign="top" rowspan="1" colspan="1">Hunter-gatherer</td><td align="center" valign="top" rowspan="1" colspan="1">Khoesan</td><td align="center" valign="top" rowspan="1" colspan="1">Sandawe</td><td align="center" valign="top" rowspan="1" colspan="1">African, Hunter-Gatherer Panel</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">Sengwer</td><td align="center" valign="top" rowspan="1" colspan="1">Kenya</td><td align="center" valign="top" rowspan="1" colspan="1">18</td><td align="center" valign="top" rowspan="1" colspan="1">91.67%</td><td align="center" valign="top" rowspan="1" colspan="1">8.33%</td><td align="center" valign="top" rowspan="1" colspan="1">0.00%</td><td align="center" valign="top" rowspan="1" colspan="1">Hunter-gatherer</td><td align="center" valign="top" rowspan="1" colspan="1">Nilo-Saharan</td><td align="center" valign="top" rowspan="1" colspan="1">Eastern Sudanic</td><td align="center" valign="top" rowspan="1" colspan="1">African Diversity Panel</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">Yoruba</td><td align="center" valign="top" rowspan="1" colspan="1">Nigeria</td><td align="center" valign="top" rowspan="1" colspan="1">157</td><td align="center" valign="top" rowspan="1" colspan="1">100.00%</td><td align="center" valign="top" rowspan="1" colspan="1">0.00%</td><td align="center" valign="top" rowspan="1" colspan="1">0.00%</td><td align="center" valign="top" rowspan="1" colspan="1">Farmer</td><td align="center" valign="top" rowspan="1" colspan="1">Niger-Kordofanian</td><td align="center" valign="top" rowspan="1" colspan="1">Defoid</td><td align="center" valign="top" rowspan="1" colspan="1">African Diversity Panel, HGDP, HapMap, 1000 Genomes Project</td></tr></tbody></table></table-wrap><table-wrap id="T2" position="float" orientation="portrait"><label>Table 2</label><caption><p>Nucleotide diversity between haplotype groups</p></caption><table frame="hsides" rules="groups"><thead><tr><th valign="middle" align="center" rowspan="1" colspan="1">Population</th><th valign="middle" align="center" rowspan="1" colspan="1">N</th><th valign="middle" align="center" rowspan="1" colspan="1">Nucleotide diversity (pi)</th></tr></thead><tbody><tr><td align="center" valign="top" rowspan="1" colspan="1">All H1</td><td align="center" valign="top" rowspan="1" colspan="1">2</td><td align="center" valign="top" rowspan="1" colspan="1">0.00047</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">All H2</td><td align="center" valign="top" rowspan="1" colspan="1">5</td><td align="center" valign="top" rowspan="1" colspan="1">0.00012</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">H2D</td><td align="center" valign="top" rowspan="1" colspan="1">3</td><td align="center" valign="top" rowspan="1" colspan="1">0.00004</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">H2′</td><td align="center" valign="top" rowspan="1" colspan="1">2</td><td align="center" valign="top" rowspan="1" colspan="1">0.00025</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">Human (all haplotypes)</td><td align="center" valign="top" rowspan="1" colspan="1">7</td><td align="center" valign="top" rowspan="1" colspan="1">0.00207</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">Nonhuman Primate<xref rid="TFN1" ref-type="table-fn">*</xref></td><td align="center" valign="top" rowspan="1" colspan="1">2</td><td align="center" valign="top" rowspan="1" colspan="1">0.03281</td></tr></tbody></table><table-wrap-foot><fn id="TFN1"><label>*</label><p>Nonhuman primate = chimpanzee and orangutan</p></fn></table-wrap-foot></table-wrap></floats-group></pmc><affiliations><list><country><li>Cameroun</li><li>France</li><li>Kenya</li><li>Soudan</li><li>Tanzanie</li><li>États-Unis</li></country><region><li>Connecticut</li><li>Pennsylvanie</li><li>Washington (État)</li><li>Île-de-France</li></region><settlement><li>Paris</li></settlement></list><tree><country name="États-Unis"><region name="Washington (État)"><name sortKey="Steinberg, Karyn Meltz" sort="Steinberg, Karyn Meltz" uniqKey="Steinberg K" first="Karyn Meltz" last="Steinberg">Karyn Meltz Steinberg</name></region><name sortKey="Antonacci, Francesca" sort="Antonacci, Francesca" uniqKey="Antonacci F" first="Francesca" last="Antonacci">Francesca Antonacci</name><name sortKey="Beggs, William" sort="Beggs, William" uniqKey="Beggs W" first="William" last="Beggs">William Beggs</name><name sortKey="Campbell, Catarina D" sort="Campbell, Catarina D" uniqKey="Campbell C" first="Catarina D." last="Campbell">Catarina D. Campbell</name><name sortKey="Donnelly, Michael P" sort="Donnelly, Michael P" uniqKey="Donnelly M" first="Michael P." last="Donnelly">Michael P. Donnelly</name><name sortKey="Eichler, Evan E" sort="Eichler, Evan E" uniqKey="Eichler E" first="Evan E." last="Eichler">Evan E. Eichler</name><name sortKey="Eichler, Evan E" sort="Eichler, Evan E" uniqKey="Eichler E" first="Evan E." last="Eichler">Evan E. Eichler</name><name sortKey="Kidd, Jeffrey M" sort="Kidd, Jeffrey M" uniqKey="Kidd J" first="Jeffrey M." last="Kidd">Jeffrey M. Kidd</name><name sortKey="Kidd, Kenneth K" sort="Kidd, Kenneth K" uniqKey="Kidd K" first="Kenneth K." last="Kidd">Kenneth K. Kidd</name><name sortKey="Malig, Maika" sort="Malig, Maika" uniqKey="Malig M" first="Maika" last="Malig">Maika Malig</name><name sortKey="Scheinfeldt, Laura" sort="Scheinfeldt, Laura" uniqKey="Scheinfeldt L" first="Laura" last="Scheinfeldt">Laura Scheinfeldt</name><name sortKey="Sudmant, Peter H" sort="Sudmant, Peter H" uniqKey="Sudmant P" first="Peter H." last="Sudmant">Peter H. Sudmant</name><name sortKey="Tishkoff, Sarah A" sort="Tishkoff, Sarah A" uniqKey="Tishkoff S" first="Sarah A." last="Tishkoff">Sarah A. Tishkoff</name><name sortKey="Vives, Laura" sort="Vives, Laura" uniqKey="Vives L" first="Laura" last="Vives">Laura Vives</name></country><country name="Soudan"><noRegion><name sortKey="Ibrahim, Muntaser" sort="Ibrahim, Muntaser" uniqKey="Ibrahim M" first="Muntaser" last="Ibrahim">Muntaser Ibrahim</name></noRegion></country><country name="Tanzanie"><noRegion><name sortKey="Lema, Godfrey" sort="Lema, Godfrey" uniqKey="Lema G" first="Godfrey" last="Lema">Godfrey Lema</name></noRegion><name sortKey="Nyambo, Thomas B" sort="Nyambo, Thomas B" uniqKey="Nyambo T" first="Thomas B." last="Nyambo">Thomas B. Nyambo</name></country><country name="Kenya"><noRegion><name sortKey="Omar, Sabah A" sort="Omar, Sabah A" uniqKey="Omar S" first="Sabah A." last="Omar">Sabah A. Omar</name></noRegion></country><country name="France"><region name="Île-de-France"><name sortKey="Bodo, Jean Marie" sort="Bodo, Jean Marie" uniqKey="Bodo J" first="Jean-Marie" last="Bodo">Jean-Marie Bodo</name></region></country><country name="Cameroun"><noRegion><name sortKey="Froment, Alain" sort="Froment, Alain" uniqKey="Froment A" first="Alain" last="Froment">Alain Froment</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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