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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Genetic Variation and Adaptation in Africa: Implications for Human Evolution and Disease</title>
<author><name sortKey="Gomez, Felicia" sort="Gomez, Felicia" uniqKey="Gomez F" first="Felicia" last="Gomez">Felicia Gomez</name>
<affiliation><nlm:aff id="af1">Department of Genetics and Biology, School of Medicine and School of Arts and Sciences, University of Pennsylvania, Philadelphia, Pennsylvania 19104</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="af2">Hominid Paleobiology Doctoral Program and The Center for the Advanced Study of Hominid Paleobiology, Department of Anthropology, The George Washington University, Washington, D.C. 20052</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hirbo, Jibril" sort="Hirbo, Jibril" uniqKey="Hirbo J" first="Jibril" last="Hirbo">Jibril Hirbo</name>
<affiliation><nlm:aff id="af1">Department of Genetics and Biology, School of Medicine and School of Arts and Sciences, University of Pennsylvania, Philadelphia, Pennsylvania 19104</nlm:aff>
</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><nlm:aff id="af1">Department of Genetics and Biology, School of Medicine and School of Arts and Sciences, University of Pennsylvania, Philadelphia, Pennsylvania 19104</nlm:aff>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">24984772</idno>
<idno type="pmc">4067985</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4067985</idno>
<idno type="RBID">PMC:4067985</idno>
<idno type="doi">10.1101/cshperspect.a008524</idno>
<date when="2014">2014</date>
<idno type="wicri:Area/Pmc/Corpus">000226</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Genetic Variation and Adaptation in Africa: Implications for Human Evolution and Disease</title>
<author><name sortKey="Gomez, Felicia" sort="Gomez, Felicia" uniqKey="Gomez F" first="Felicia" last="Gomez">Felicia Gomez</name>
<affiliation><nlm:aff id="af1">Department of Genetics and Biology, School of Medicine and School of Arts and Sciences, University of Pennsylvania, Philadelphia, Pennsylvania 19104</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="af2">Hominid Paleobiology Doctoral Program and The Center for the Advanced Study of Hominid Paleobiology, Department of Anthropology, The George Washington University, Washington, D.C. 20052</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hirbo, Jibril" sort="Hirbo, Jibril" uniqKey="Hirbo J" first="Jibril" last="Hirbo">Jibril Hirbo</name>
<affiliation><nlm:aff id="af1">Department of Genetics and Biology, School of Medicine and School of Arts and Sciences, University of Pennsylvania, Philadelphia, Pennsylvania 19104</nlm:aff>
</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><nlm:aff id="af1">Department of Genetics and Biology, School of Medicine and School of Arts and Sciences, University of Pennsylvania, Philadelphia, Pennsylvania 19104</nlm:aff>
</affiliation>
</author>
</analytic>
<series><title level="j">Cold Spring Harbor Perspectives in Biology</title>
<idno type="eISSN">1943-0264</idno>
<imprint><date when="2014">2014</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
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<front><div type="abstract" xml:lang="en"><p>Because modern humans originated in Africa and have adapted to diverse environments, African populations have high levels of genetic and phenotypic diversity. Thus, genomic studies of diverse African ethnic groups are essential for understanding human evolutionary history and how this leads to differential disease risk in all humans. Comparative studies of genetic diversity within and between African ethnic groups creates an opportunity to reconstruct some of the earliest events in human population history and are useful for identifying patterns of genetic variation that have been influenced by recent natural selection. Here we describe what is currently known about genetic variation and evolutionary history of diverse African ethnic groups. We also describe examples of recent natural selection in African genomes and how these data are informative for understanding the frequency of many genetic traits, including those that cause disease susceptibility in African populations and populations of recent African descent.</p>
</div>
</front>
</TEI>
<pmc article-type="review-article"><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">Cold Spring Harb Perspect Biol</journal-id>
<journal-id journal-id-type="iso-abbrev">Cold Spring Harb Perspect Biol</journal-id>
<journal-id journal-id-type="publisher-id">cshperspect</journal-id>
<journal-id journal-id-type="hwp">cshperspect</journal-id>
<journal-title-group><journal-title>Cold Spring Harbor Perspectives in Biology</journal-title>
</journal-title-group>
<issn pub-type="epub">1943-0264</issn>
<publisher><publisher-name>Cold Spring Harbor Laboratory Press</publisher-name>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">24984772</article-id>
<article-id pub-id-type="pmc">4067985</article-id>
<article-id pub-id-type="doi">10.1101/cshperspect.a008524</article-id>
<article-id pub-id-type="publisher-id">a008524</article-id>
<article-categories><subj-group subj-group-type="hwp-journal-coll"><subject>067</subject>
</subj-group>
<subj-group subj-group-type="heading"><subject>Essay</subject>
<subj-group><subject>Genetics</subject>
</subj-group>
</subj-group>
</article-categories>
<title-group><article-title>Genetic Variation and Adaptation in Africa: Implications for Human Evolution and Disease</article-title>
<alt-title alt-title-type="left-running">F. Gomez et al.</alt-title>
<alt-title alt-title-type="right-running">Genetic Variation and Adaptation in Africa</alt-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Gomez</surname>
<given-names>Felicia</given-names>
</name>
<xref ref-type="aff" rid="af1">1</xref>
<xref ref-type="aff" rid="af2">2</xref>
<xref ref-type="author-notes" rid="FN1">3</xref>
<xref ref-type="author-notes" rid="FN2">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hirbo</surname>
<given-names>Jibril</given-names>
</name>
<xref ref-type="aff" rid="af1">1</xref>
<xref ref-type="author-notes" rid="FN1">3</xref>
<xref ref-type="author-notes" rid="FN3">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Tishkoff</surname>
<given-names>Sarah A.</given-names>
</name>
<xref ref-type="aff" rid="af1">1</xref>
</contrib>
</contrib-group>
<aff id="af1"><label>1</label>
Department of Genetics and Biology, School of Medicine and School of Arts and Sciences, University of Pennsylvania, Philadelphia, Pennsylvania 19104</aff>
<aff id="af2"><label>2</label>
Hominid Paleobiology Doctoral Program and The Center for the Advanced Study of Hominid Paleobiology, Department of Anthropology, The George Washington University, Washington, D.C. 20052</aff>
<author-notes><fn fn-type="equal" id="FN1"><label>3</label>
<p>These authors contributed equally to this work.</p>
</fn>
<fn fn-type="present-address" id="FN2"><label>4</label>
<p>Current address: Division of Statistical Genetics, Department of Genetics, Washington University School of Medicine in St. Louis, St. Louis, Missouri 63108.</p>
</fn>
<fn fn-type="present-address" id="FN3"><label>5</label>
<p>Current address: Department of Biological Sciences, Vanderbilt University, 7280 BSB/MRB III, VU Station B, Box 35-1634, Nashville, Tennessee 37235-1634.</p>
</fn>
<corresp><italic>Correspondence:</italic>
<email>tishkoff@mail.med.upenn.edu</email>
</corresp>
</author-notes>
<pub-date pub-type="ppub"><month>7</month>
<year>2014</year>
</pub-date>
<volume>6</volume>
<issue>7</issue>
<elocation-id>a008524</elocation-id>
<permissions><copyright-statement>Copyright © 2014 Cold Spring Harbor Laboratory Press; all rights reserved</copyright-statement>
<copyright-year>2014</copyright-year>
</permissions>
<self-uri content-type="pdf" xlink:type="simple" xlink:href="cshperspect-DIV-a008524.pdf"></self-uri>
<abstract><p>Because modern humans originated in Africa and have adapted to diverse environments, African populations have high levels of genetic and phenotypic diversity. Thus, genomic studies of diverse African ethnic groups are essential for understanding human evolutionary history and how this leads to differential disease risk in all humans. Comparative studies of genetic diversity within and between African ethnic groups creates an opportunity to reconstruct some of the earliest events in human population history and are useful for identifying patterns of genetic variation that have been influenced by recent natural selection. Here we describe what is currently known about genetic variation and evolutionary history of diverse African ethnic groups. We also describe examples of recent natural selection in African genomes and how these data are informative for understanding the frequency of many genetic traits, including those that cause disease susceptibility in African populations and populations of recent African descent.</p>
</abstract>
<abstract abstract-type="precis"><p>African populations have the highest levels of genetic variation among all humans. Studies of these populations are used to understand demographic changes in Africa and to identify disease-related genes (e.g., APOL1).</p>
</abstract>
<counts><page-count count="21"></page-count>
</counts>
</article-meta>
</front>
</pmc>
</record>
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