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Structural Diversity and African Origin of the 17q21.31 Inversion Polymorphism

Identifieur interne : 001066 ( Main/Exploration ); précédent : 001065; suivant : 001067

Structural 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.

RBID : PMC:3408829

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 KANSL1 (previously known as KIAA1267) 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.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3408829

DOI: 10.1038/ng.2335
PubMed: 22751100
PubMed Central: 3408829

Affiliations:

Cameroun, France, Kenya, Soudan, Tanzanie, États-Unis
Connecticut, Pennsylvanie, Washington (État), Île-de-France
Paris

Le document en format XML

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<author><name sortKey="Tishkoff, Sarah A" sort="Tishkoff, Sarah A" uniqKey="Tishkoff S" first="Sarah A." last="Tishkoff">Sarah A. Tishkoff</name>
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</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>
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<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>
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</analytic>
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</author>
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</biblStruct>
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<biblStruct><analytic><author><name sortKey="Sharp, Aj" uniqKey="Sharp A">AJ Sharp</name>
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</analytic>
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<author><name sortKey="Veltman, Ja" uniqKey="Veltman J">JA Veltman</name>
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</analytic>
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</TEI>
<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>
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<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>
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<name sortKey="Antonacci, Francesca" sort="Antonacci, Francesca" uniqKey="Antonacci F" first="Francesca" last="Antonacci">Francesca Antonacci</name>
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<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>
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</country>
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</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>
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<country name="Cameroun"><noRegion><name sortKey="Froment, Alain" sort="Froment, Alain" uniqKey="Froment A" first="Alain" last="Froment">Alain Froment</name>
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</record>

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La maladie de Parkinson en France (serveur d'exploration)

Structural Diversity and African Origin of the 17q21.31 Inversion Polymorphism

Structural Diversity and African Origin of the 17q21.31 Inversion Polymorphism

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	La maladie de Parkinson en France (serveur d'exploration)
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