Human paternal and maternal demographic histories: insights from high-resolution Y chromosome and mtDNA sequences

<!doctype html> <html lang="en" dir="ltr" xmlns="http://www.w3.org/1999/xhtml" xmlns:mml="http://www.w3.org/1998/Math/MathML"> <head prefix="og: http://ogp.me/ns# article: http://ogp.me/ns/article# book: http://ogp.me/ns/book#"> <base href="https://www.biorxiv.org/content/10.1101/001792v1">  <link rel="dns-prefetch" href="//d33xdlntwy0kbs.cloudfront.net"> <link rel="dns-prefetch" href="//www.google.com"> <link rel="dns-prefetch" href="//scholar.google.com"> <link rel="dns-prefetch" href="//www.googletagmanager.com"> <meta http-equiv="Content-Type" content="text/html; charset=utf-8"> <link rel="shortcut icon" href="https://www.biorxiv.org/sites/default/files/images/favicon.ico" type="image/vnd.microsoft.icon"> <meta name="viewport" content="width=device-width, initial-scale=1"> <link rel="alternate" type="application/pdf" title="Full Text (PDF)" href="/content/10.1101/001792v1.full.pdf"> <link rel="alternate" type="text/plain" title="Full Text (Plain)" href="/content/10.1101/001792v1.full.txt"> <meta name="type" content="article"> <meta name="category" content="article"> <meta name="HW.identifier" content="/biorxiv/early/2014/01/13/001792.atom"> <meta name="HW.pisa" content="biorxiv;001792v1"> <meta name="DC.Format" content="text/html"> <meta name="DC.Language" content="en"> <meta name="DC.Title" content="Human paternal and maternal demographic histories: insights from high-resolution Y chromosome and mtDNA sequences"> <meta name="DC.Identifier" content="10.1101/001792"> <meta name="DC.Date" content="2014-01-13"> <meta name="DC.Publisher" content="Cold Spring Harbor Laboratory"> <meta name="DC.Rights" content="© 2014, Posted by Cold Spring Harbor Laboratory. This pre-print is available under a Creative Commons License (Attribution-NonCommercial-NoDerivs 3.0 Unported), CC BY-NC-ND 3.0, as described at http://creativecommons.org/licenses/by-nc-nd/3.0/"> <meta name="DC.AccessRights" content="restricted"> <meta name="DC.Description" content="To investigate in detail the paternal and maternal demographic histories of humans, we obtained ∼500 kb of non-recombining Y chromosome (NRY) sequences and complete mtDNA genome sequences from 623 males from 51 populations in the CEPH Human Genome Diversity Panel (HGDP). Our results: confirm the controversial assertion that genetic differences between human populations on a global scale are bigger for the NRY than for mtDNA; suggest very small ancestral effective population sizes (<100) for the out-of-Africa migration as well as for many human populations; and indicate that the ratio of female effective population size to male effective population size (Nf/Nm) has been greater than one throughout the history of modern humans, and has recently increased due to faster growth in Nf. However, we also find substantial differences in patterns of mtDNA vs. NRY variation in different regional groups; thus, global patterns of variation are not necessarily representative of specific geographic regions."> <meta name="DC.Contributor" content="Sebastian Lippold"> <meta name="DC.Contributor" content="Hongyang Xu"> <meta name="DC.Contributor" content="Albert Ko"> <meta name="DC.Contributor" content="Mingkun Li"> <meta name="DC.Contributor" content="Gabriel Renaud"> <meta name="DC.Contributor" content="Anne Butthof"> <meta name="DC.Contributor" content="Roland Schröder"> <meta name="DC.Contributor" content="Mark Stoneking"> <meta name="article:published_time" content="2014-01-13"> <meta name="article:section" content="New Results"> <meta name="citation_title" content="Human paternal and maternal demographic histories: insights from high-resolution Y chromosome and mtDNA sequences"> <meta name="citation_abstract" lang="en" content="<h3>Abstract</h3> <p>To investigate in detail the paternal and maternal demographic histories of humans, we obtained ∼500 kb of non-recombining Y chromosome (NRY) sequences and complete mtDNA genome sequences from 623 males from 51 populations in the CEPH Human Genome Diversity Panel (HGDP). Our results: confirm the controversial assertion that genetic differences between human populations on a global scale are bigger for the NRY than for mtDNA; suggest very small ancestral effective population sizes (&lt;100) for the out-of-Africa migration as well as for many human populations; and indicate that the ratio of female effective population size to male effective population size (N<sub>f</sub>/N<sub>m</sub>) has been greater than one throughout the history of modern humans, and has recently increased due to faster growth in N<sub>f</sub>. However, we also find substantial differences in patterns of mtDNA vs. NRY variation in different regional groups; thus, global patterns of variation are not necessarily representative of specific geographic regions.</p>"> <meta name="citation_journal_title" content="bioRxiv"> <meta name="citation_publisher" content="Cold Spring Harbor Laboratory"> <meta name="citation_publication_date" content="2014/01/01"> <meta name="citation_mjid" content="biorxiv;001792v1"> <meta name="citation_id" content="001792v1"> <meta name="citation_public_url" content="https://www.biorxiv.org/content/10.1101/001792v1"> <meta name="citation_abstract_html_url" content="https://www.biorxiv.org/content/10.1101/001792v1.abstract"> <meta name="citation_full_html_url" content="https://www.biorxiv.org/content/10.1101/001792v1.full"> <meta name="citation_pdf_url" content="https://www.biorxiv.org/content/biorxiv/early/2014/01/13/001792.full.pdf"> <meta name="citation_doi" content="10.1101/001792"> <meta name="citation_num_pages" content="20"> <meta name="citation_article_type" content="Article"> <meta name="citation_section" content="New Results"> <meta name="citation_firstpage" content="001792"> <meta name="citation_author" content="Sebastian Lippold"> <meta name="citation_author_institution" content="Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology"> <meta name="citation_author" content="Hongyang Xu"> <meta name="citation_author_institution" content="Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology"> <meta name="citation_author_institution" content="Department of Computational Genetics, CAS-MPG Partner Institute for Computational Biology"> <meta name="citation_author" content="Albert Ko"> <meta name="citation_author_institution" content="Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology"> <meta name="citation_author" content="Mingkun Li"> <meta name="citation_author_institution" content="Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology"> <meta name="citation_author" content="Gabriel Renaud"> <meta name="citation_author_institution" content="Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology"> <meta name="citation_author" content="Anne Butthof"> <meta name="citation_author_institution" content="Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology"> <meta name="citation_author" content="Roland Schröder"> <meta name="citation_author_institution" content="Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology"> <meta name="citation_author" content="Mark Stoneking"> <meta name="citation_author_institution" content="Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology"> <meta name="citation_reference" content="Jobling, M.A. The impact of recent events on human genetic diversity. 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Our results: confirm the controversial assertion that genetic differences between human populations on a global scale are bigger for the NRY than for mtDNA; suggest very small ancestral effective population sizes (<100) for the out-of-Africa migration as well as for many human populations; and indicate that the ratio of female effective population size to male effective population size (Nf/Nm) has been greater than one throughout the history of modern humans, and has recently increased due to faster growth in Nf. However, we also find substantial differences in patterns of mtDNA vs. NRY variation in different regional groups; thus, global patterns of variation are not necessarily representative of specific geographic regions."> <meta name="og-title" property="og:title" content="Human paternal and maternal demographic histories: insights from high-resolution Y chromosome and mtDNA sequences"> <meta name="og-url" property="og:url" content="https://www.biorxiv.org/content/10.1101/001792v1"> <meta name="og-site-name" property="og:site_name" content="bioRxiv"> <meta name="og-description" property="og:description" content="To investigate in detail the paternal and maternal demographic histories of humans, we obtained ∼500 kb of non-recombining Y chromosome (NRY) sequences and complete mtDNA genome sequences from 623 males from 51 populations in the CEPH Human Genome Diversity Panel (HGDP). Our results: confirm the controversial assertion that genetic differences between human populations on a global scale are bigger for the NRY than for mtDNA; suggest very small ancestral effective population sizes (<100) for the out-of-Africa migration as well as for many human populations; and indicate that the ratio of female effective population size to male effective population size (Nf/Nm) has been greater than one throughout the history of modern humans, and has recently increased due to faster growth in Nf. However, we also find substantial differences in patterns of mtDNA vs. NRY variation in different regional groups; thus, global patterns of variation are not necessarily representative of specific geographic regions."> <meta name="og-type" property="og:type" content="article"> <meta name="og-image" property="og:image" content="https://www.biorxiv.org/sites/default/files/images/biorxiv_logo_homepage7-5-small.png"> <meta name="citation_date" content="2014-01-13"> <link rel="alternate" type="application/vnd.ms-powerpoint" title="Powerpoint" href="/content/10.1101/001792v1.ppt"> <meta name="description" content="bioRxiv - the preprint server for biology, operated by Cold Spring Harbor Laboratory, a research and educational institution"> <meta name="generator" content="Drupal 7 (http://drupal.org)"> <link rel="canonical" href="https://www.biorxiv.org/content/10.1101/001792v1"> <link rel="shortlink" href="https://www.biorxiv.org/node/467"> <title>Human paternal and maternal demographic 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class="block-inner clearfix"> <div class="content clearfix"> <div class="panel-display panels-960-layout jcore-2col-layout"> <div class="panel-row-wrapper clearfix"> <div class="main-content-wrapper grid-17 suffix-1 alpha"> <div class="panel-panel panel-region-content"> <div class="inside"> <div class="panel-pane pane-highwire-article-citation"> <div class="pane-content"> <div class="highwire-article-citation highwire-citation-type-highwire-article node467" data-node-nid="467" id="node-467--2228275318" data-pisa="biorxiv;001792v1" data-pisa-master="biorxiv;001792" data-apath="/biorxiv/early/2014/01/13/001792.atom" data-hw-author-tooltip-instance="highwire_author_tooltip"> <div class="highwire-cite highwire-cite-highwire-article highwire-citation-biorxiv-article-top clearfix has-author-tooltip"><span class="biorxiv-article-type"> New Results </span> <h1 class="highwire-cite-title" id="page-title">Human paternal and maternal demographic histories: insights from high-resolution Y chromosome and mtDNA sequences</h1> <div class="highwire-cite-authors"> <span class="highwire-citation-authors"><span class="highwire-citation-author first" data-delta="0"><span class="nlm-given-names">Sebastian</span> <span class="nlm-surname">Lippold</span></span>, <span class="highwire-citation-author" data-delta="1"><span class="nlm-given-names">Hongyang</span> <span class="nlm-surname">Xu</span></span>, <span class="highwire-citation-author" data-delta="2"><span class="nlm-given-names">Albert</span> <span class="nlm-surname">Ko</span></span>, <span class="highwire-citation-author" data-delta="3"><span class="nlm-given-names">Mingkun</span> <span class="nlm-surname">Li</span></span>, <span class="highwire-citation-author" data-delta="4"><span class="nlm-given-names">Gabriel</span> <span class="nlm-surname">Renaud</span></span>, <span class="highwire-citation-author" data-delta="5"><span class="nlm-given-names">Anne</span> <span class="nlm-surname">Butthof</span></span>, <span class="highwire-citation-author" data-delta="6"><span class="nlm-given-names">Roland</span> <span class="nlm-surname">Schröder</span></span>, <span class="highwire-citation-author" data-delta="7"><span class="nlm-given-names">Mark</span> <span class="nlm-surname">Stoneking</span></span></span> </div> <div class="highwire-cite-metadata"> <span class="highwire-cite-metadata-doi highwire-cite-metadata"><span class="label">doi:</span> https://doi.org/10.1101/001792 </span> </div> </div> <div id="hw-article-author-popups-node-467--2228275318" style="display: none;"> <div class="author-tooltip-0"> <div class="author-tooltip-name"> Sebastian Lippold </div> <div class="author-tooltip-affiliation"> <span class="author-tooltip-text"> <div class="author-affiliation"> <span class="nlm-sup">1</span><span class="nlm-institution">Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology</span>, Leipzig, <span class="nlm-country">Germany</span> </div></span> </div> <ul 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<div class="section abstract" id="abstract-1"> <h2 class="">Abstract</h2> <p id="p-4">To investigate in detail the paternal and maternal demographic histories of humans, we obtained ∼500 kb of non-recombining Y chromosome (NRY) sequences and complete mtDNA genome sequences from 623 males from 51 populations in the CEPH Human Genome Diversity Panel (HGDP). Our results: confirm the controversial assertion that genetic differences between human populations on a global scale are bigger for the NRY than for mtDNA; suggest very small ancestral effective population sizes (<100) for the out-of-Africa migration as well as for many human populations; and indicate that the ratio of female effective population size to male effective population size (N<sub>f</sub>/N<sub>m</sub>) has been greater than one throughout the history of modern humans, and has recently increased due to faster growth in N<sub>f</sub>. However, we also find substantial differences in patterns of mtDNA vs. NRY variation in different regional groups; thus, global patterns of variation are not necessarily representative of specific geographic regions.</p> </div><span class="highwire-journal-article-marker-end"></span> </div><span class="related-urls"></span> </div> </div> </div> </div> <div class="panel-separator"></div> <div class="panel-pane pane-biorxiv-copyright"> <div class="pane-content"> <div class="field field-name-field-highwire-copyright field-type-text field-label-inline clearfix"> <div class="field-label"> Copyright  </div> <div class="field-items"> <div class="field-item even"> The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity.<span class="license-type"> It is made available under a <a href="https://translate.google.com/website?sl=auto&tl=en&hl=en-GB&u=http://creativecommons.org/licenses/by-nc-nd/3.0/" class="" 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Human paternal and maternal demographic histories: insights from high-resolution Y chromosome and mtDNA sequences | bioRxiv