Reconstructing Indian population history

<!DOCTYPE html>     <html class="no-js" lang="en">  <head> <title>Reconstructing Indian population history - NASA/ADS</title>  <link rel="apple-touch-icon" sizes="180x180" href="//styles/favicon/apple-touch-icon.png" /> <link rel="icon" type="image/png" sizes="32x32" href="//styles/favicon/favicon-32x32.png" /> <link rel="icon" type="image/png" sizes="16x16" href="//styles/favicon/favicon-16x16.png" /> <link rel="manifest" href="//styles/favicon/site.webmanifest" /> <link rel="mask-icon" href="//styles/favicon/safari-pinned-tab.svg" color="#5bbad5" /> <meta name="apple-mobile-web-app-title" content="NASA ADS" /> <meta name="application-name" content="NASA ADS" /> <meta name="msapplication-TileColor" content="#ffc40d" /> <meta name="theme-color" content="#ffffff" />  <link rel="stylesheet" href="/styles/css/styles.css"> <meta name="robots" content="noarchive"> <link rel="canonical" href="http://ui.adsabs.harvard.edu/abs/2009Natur.461..489R/abstract"/> <meta name="description" content="India has been underrepresented in genome-wide surveys of human variation. We analyse 25 diverse groups in India to provide strong evidence for two ancient populations, genetically divergent, that are ancestral to most Indians today. One, the `Ancestral North Indians' (ANI), is genetically close to Middle Easterners, Central Asians, and Europeans, whereas the other, the `Ancestral South Indians' (ASI), is as distinct from ANI and East Asians as they are from each other. By introducing methods that can estimate ancestry without accurate ancestral populations, we show that ANI ancestry ranges from 39-71% in most Indian groups, and is higher in traditionally upper caste and Indo-European speakers. Groups with only ASI ancestry may no longer exist in mainland India. However, the indigenous Andaman Islanders are unique in being ASI-related groups without ANI ancestry. Allele frequency differences between groups in India are larger than in Europe, reflecting strong founder effects whose signatures have been maintained for thousands of years owing to endogamy. We therefore predict that there will be an excess of recessive diseases in India, which should be possible to screen and map genetically.">  <meta property="og:type" content="article"> <meta property="og:title" content="Reconstructing Indian population history"> <meta property="og:site_name" content="NASA/ADS"> <meta property="og:description" content="India has been underrepresented in genome-wide surveys of human variation. We analyse 25 diverse groups in India to provide strong evidence for two ancient populations, genetically divergent, that are ancestral to most Indians today. One, the `Ancestral North Indians' (ANI), is genetically close to Middle Easterners, Central Asians, and Europeans, whereas the other, the `Ancestral South Indians' (ASI), is as distinct from ANI and East Asians as they are from each other. By introducing methods that can estimate ancestry without accurate ancestral populations, we show that ANI ancestry ranges from 39-71% in most Indian groups, and is higher in traditionally upper caste and Indo-European speakers. Groups with only ASI ancestry may no longer exist in mainland India. However, the indigenous Andaman Islanders are unique in being ASI-related groups without ANI ancestry. Allele frequency differences between groups in India are larger than in Europe, reflecting strong founder effects whose signatures have been maintained for thousands of years owing to endogamy. We therefore predict that there will be an excess of recessive diseases in India, which should be possible to screen and map genetically."> <meta property="og:url" content="https://ui.adsabs.harvard.edu/abs/2009Natur.461..489R/abstract"> <meta property="og:image" content="https://ui.adsabs.harvard.edu/styles/img/transparent_logo.svg"> <meta property="article:published_time" content="09/2009"> <meta property="article:author" content="Reich, David"> <meta property="article:author" content="Thangaraj, Kumarasamy"> <meta property="article:author" content="Patterson, Nick"> <meta property="article:author" content="Price, Alkes L."> <meta property="article:author" content="Singh, Lalji">  <meta name="citation_journal_title" content="Nature"> <meta name="citation_authors" content="Reich, David;Thangaraj, Kumarasamy;Patterson, Nick;Price, Alkes L.;Singh, Lalji"> <meta name="citation_title" content="Reconstructing Indian population history"> <meta name="citation_date" content="09/2009"> <meta name="citation_volume" content="461"> <meta name="citation_issue" content="7263"> <meta name="citation_firstpage" content="489"> <meta name="citation_doi" content="10.1038/nature08365"> <meta name="citation_issn" content="0028-0836"> <meta name="citation_language" content="en"> <meta name="citation_abstract_html_url" content="https://ui.adsabs.harvard.edu/abs/2009Natur.461..489R/abstract"> <meta name="citation_publication_date" content="09/2009"> <meta name="citation_lastpage" content="494" /> <link title="schema(PRISM)" rel="schema.prism" href="http://prismstandard.org/namespaces/1.2/basic/" /> <meta name="prism.publicationDate" content="09/2009" /> <meta name="prism.publicationName" content="Natur" /> <meta name="prism.issn" content="0028-0836" /> <meta name="prism.volume" content="461" /> <meta name="prism.startingPage" content="489" /> <meta name="prism.endingPage" content="494" /> <link title="schema(DC)" rel="schema.dc" href="http://purl.org/dc/elements/1.1/" /> <meta name="dc.identifier" content="doi:10.1038/nature08365" /> <meta name="dc.date" content="09/2009" /> <meta name="dc.source" content="Natur" /> <meta name="dc.title" content="Reconstructing Indian population history" /> <meta name="dc.creator" content="Reich, David"> <meta name="dc.creator" content="Thangaraj, Kumarasamy"> <meta name="dc.creator" content="Patterson, Nick"> <meta name="dc.creator" content="Price, Alkes L."> <meta name="dc.creator" content="Singh, Lalji">  <meta name="twitter:card" content="summary_large_image"/> <meta name="twitter:description" content="India has been underrepresented in genome-wide surveys of human variation. We analyse 25 diverse groups in India to provide strong evidence for two ancient populations, genetically divergent, that are ancestral to most Indians today. One, the `Ancestral North Indians' (ANI), is genetically close to Middle Easterners, Central Asians, and Europeans, whereas the other, the `Ancestral South Indians' (ASI), is as distinct from ANI and East Asians as they are from each other. By introducing methods that can estimate ancestry without accurate ancestral populations, we show that ANI ancestry ranges from 39-71% in most Indian groups, and is higher in traditionally upper caste and Indo-European speakers. Groups with only ASI ancestry may no longer exist in mainland India. However, the indigenous Andaman Islanders are unique in being ASI-related groups without ANI ancestry. Allele frequency differences between groups in India are larger than in Europe, reflecting strong founder effects whose signatures have been maintained for thousands of years owing to endogamy. We therefore predict that there will be an excess of recessive diseases in India, which should be possible to screen and map genetically."/> <meta name="twitter:title" content="Reconstructing Indian population history"/> <meta name="twitter:site" content="@adsabs"/> <meta name="twitter:domain" content="NASA/ADS"/> <meta name="twitter:image:src" content="https://ui.adsabs.harvard.edu/styles/img/transparent_logo.svg"/> <meta name="twitter:creator" content="@adsabs"/> <meta charset="utf-8"> <meta name="viewport" content="width=device-width, initial-scale=1, shrink-to-fit=no"> <base href="/"> <style> .btn-full-ads { color: #fff !important; background-color: #1a1a1a !important; border-color: #1a1a1a !important; margin-top: 9px !important; padding-bottom: 10px !important; padding-top: 10px !important; } .btn-full-ads:hover, .btn-full-ads:focus, .btn-full-ads:active, .btn-full-ads.active, .open>.dropdown-toggle.btn-full-ads { color: #000 !important; background-color: #ddd !important; border-color: #1a1a1a !important; 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<li class="author"><a href="/search/?q=author%3A%22Thangaraj%2C+Kumarasamy%22">Thangaraj, Kumarasamy</a> </li>; <li class="author"><a href="/search/?q=author%3A%22Patterson%2C+Nick%22">Patterson, Nick</a> </li>; <li class="author"><a href="/search/?q=author%3A%22Price%2C+Alkes+L.%22">Price, Alkes L.</a> </li>; <li class="author"><a href="/search/?q=author%3A%22Singh%2C+Lalji%22">Singh, Lalji</a> </li> </ul> </div> <div class="s-abstract-text"> <h4 class="sr-only">Abstract</h4> <p> India has been underrepresented in genome-wide surveys of human variation. We analyse 25 diverse groups in India to provide strong evidence for two ancient populations, genetically divergent, that are ancestral to most Indians today. One, the `Ancestral North Indians' (ANI), is genetically close to Middle Easterners, Central Asians, and Europeans, whereas the other, the `Ancestral South Indians' (ASI), is as distinct from ANI and East Asians as they are from each other. By introducing methods that can estimate ancestry without accurate ancestral populations, we show that ANI ancestry ranges from 39-71% in most Indian groups, and is higher in traditionally upper caste and Indo-European speakers. Groups with only ASI ancestry may no longer exist in mainland India. However, the indigenous Andaman Islanders are unique in being ASI-related groups without ANI ancestry. Allele frequency differences between groups in India are larger than in Europe, reflecting strong founder effects whose signatures have been maintained for thousands of years owing to endogamy. We therefore predict that there will be an excess of recessive diseases in India, which should be possible to screen and map genetically. </p> </div> <br> <dl class="s-abstract-dl-horizontal"> <dt>Publication:</dt> <dd> <div id="article-publication">Nature</div> </dd> <dt>Pub Date:</dt> <dd>September 2009</dd> <dt>DOI:</dt> <dd> <span> <a href="/link_gateway/2009Natur.461..489R/doi:10.1038/nature08365" target="_blank" rel="noopener">10.1038/nature08365</a> <i class="fa fa-external-link"></i> </span> </dd> <dt>Bibcode:</dt> <dd> <a href="/abs/2009Natur.461..489R/abstract"> 2009Natur.461..489R </a> <i class="icon-help" title="The bibcode is assigned by the ADS as a unique identifier for the paper."></i> </dd> </dl> </article> </div> <div data-widget="ShowCitations"></div> <div data-widget="ShowReferences"></div> <div data-widget="ShowCoreads"></div> <div data-widget="ShowSimilar"></div> <div data-widget="ShowTableofcontents"></div> <div data-widget="ShowGraphics"></div> <div data-widget="ShowExportcitation" data-origin="abstract"></div> <div data-widget="ShowMetrics" data-allow-redirect="false"></div> <div data-widget="MetaTagsWidget"></div> </div> </div> </div> <div class="s-right-col-container col-xs-12 col-sm-12 col-md-3 col-lg-2 s-right-column" id="right-col-container" > <div data-widget="ShowResources"> <div data-reactroot="" class="s-right-col-widget-container" style="padding: 10px" > <div> <div class="resources__container"> <div class="resources__full__list"> <div class="resources__header__row"> <i class="fa fa-file-text-o" aria-hidden="true"> </i> <div class="resources__header__title">full text sources</div> </div> <div class="resources__content"> <div class="resources__content__title">Publisher</div> <div class="resources__content__links"> <span> <div class="resources__content__link__separator">|</div> </span> <span> <a href="/link_gateway/2009Natur.461..489R/PUB_HTML" rel="noopener" class="resources__content__link " > <i class="fa fa-file-text" aria-hidden="true"> </i> </a> </span> </div> </div> </div> </div> <div data-widget="ShowAssociated"> </div> </div> </div> </div> <div data-widget="ShowGraphicsSidebar"> </div> </div> </div> </div> </div> </div> </div> <div id="footer-container"> <div data-widget="FooterWidget"> <div class="footer s-footer"> <footer> <div class="__footer_wrapper"> <div class="__footer_brand"> 漏 The SAO/NASA Astrophysics Data System <div class="__footer_brand_extra"> <p> <i class="fa fa-envelope"></i> adshelp[at]cfa.harvard.edu </p> <p> The ADS is operated by the Smithsonian Astrophysical Observatory under NASA Cooperative Agreement <em>NNX16AC86A</em> </p> </div> <div class="__footer_brand_logos"> <a href="http://www.nasa.gov" target="_blank" rel="noopener"> <img src="/styles/img/nasa.svg" alt="NASA logo" id="nasa-logo"> </a> <a href="http://www.si.edu" target="_blank" rel="noopener"> <img id="smithsonian-logo" src="/styles/img/smithsonian.svg" alt="Smithsonian logo"> </a> <a href="https://www.cfa.harvard.edu/" target="_blank" rel="noopener"> <img src="/styles/img/cfa.png" title="Harvard Center for Astrophysics logo" id="cfa-logo"> </a> </div> </div> <div class="__footer_list"> <div class="__footer_list_title"> Resources </div> <ul class="__footer_links"> <li> <a href="/about/" target="_blank" rel="noopener"> <i class="fa fa-question-circle"></i> About ADS </a> </li> <li> <a href="//ui.adsabs.harvard.edu/help/" target="_blank" rel="noopener"> <i class="fa fa-info-circle"></i> ADS Help </a> </li> <li> <a href="//ui.adsabs.harvard.edu/help/whats_new/" target="_blank" rel="noopener"> <i class="fa fa-bullhorn"></i> What's New </a> </li> <li> <a href="/about/careers/" target="_blank" rel="noopener"> <i class="fa fa-group"></i> Careers@ADS </a> </li> </ul> </div> <div class="__footer_list"> <div class="__footer_list_title"> Social </div> <ul class="__footer_links"> <li> <a href="//twitter.com/adsabs" target="_blank" rel="noopener"> <i class="fa fa-twitter"></i> @adsabs </a> </li> <li> <a href="//ui.adsabs.harvard.edu/blog/" target="_blank" rel="noopener"> <i class="fa fa-newspaper-o"></i> ADS Blog </a> </li> </ul> </div> <div class="__footer_list"> <div class="__footer_list_title"> Project </div> <ul class="__footer_links"> <li> <a href="/core/never">Switch to full ADS</a> </li> <li> <a href="https://adsisdownorjustme.herokuapp.com/" target="_blank" rel="noopener">Is ADS down? 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// Add class "autocomplete-active": x[currentFocus].classList.add("autocomplete-active"); } function removeActive(x) { // Remove the "active" class from all autocomplete items: for (var i = 0; i < x.length; i++) { x[i].classList.remove("autocomplete-active"); } } function closeAllLists(elmnt) { // Close all autocomplete lists in the document, except the one passed as an argument: var x = document.getElementsByClassName("autocomplete-items"); for (var i = 0; i < x.length; i++) { if (elmnt != x[i] && elmnt != searchBox) { x[i].parentNode.removeChild(x[i]); } } } // Any other clicks in the document: document.addEventListener("click", function (e) { closeAllLists(e.target); }); } var autoList = [ { value: 'author:""', label: 'Author', match: 'author:"' }, { value: 'author:"^"', label: 'First Author', match: 'first author' }, { value: 'author:"^"', label: 'First Author', match: 'author:"^' }, { value: 'bibcode:""', label: 'Bibcode', desc: 'e.g. bibcode:1989ApJ...342L..71R', match: 'bibcode:"' }, { value: 'bibstem:""', label: 'Publication', desc: 'e.g. bibstem:ApJ', match: 'bibstem:"' }, { value: 'bibstem:""', label: 'Publication', desc: 'e.g. bibstem:ApJ', match: 'publication (bibstem)' }, { value: 'arXiv:', label: 'arXiv ID', match: 'arxiv:' }, { value: 'doi:', label: 'DOI', match: 'doi:' }, { value: 'full:""', label: 'Full text search', desc: 'title, abstract, and body', match: 'full:' }, { value: 'full:""', label: 'Full text search', desc: 'title, abstract, and body', match: 'fulltext' }, { value: 'full:""', label: 'Full text search', desc: 'title, abstract, and body', match: 'text' }, { value: 'year:', label: 'Year', match: 'year' }, { value: 'year:1999-2005', label: 'Year Range', desc: 'e.g. 1999-2005', match: 'year range' }, { value: 'aff:""', label: 'Affiliation', match: 'aff:' }, { value: 'abs:""', label: 'Search abstract + title + keywords', match: 'abs:' }, { value: 'database:astronomy', label: 'Limit to papers in the astronomy database', match: 'database:astronomy' }, { value: 'database:physics', label: 'Limit to papers in the physics database', match: 'database:physics' }, { value: 'title:""', label: 'Title', match: 'title:"' }, { value: 'orcid:', label: 'ORCiD identifier', match: 'orcid:' }, { value: 'object:', label: 'SIMBAD object (e.g. object:LMC)', match: 'object:' }, { value: 'property:refereed', label: 'Limit to refereed', desc: '(property:refereed)', match: 'refereed' }, { value: 'property:refereed', label: 'Limit to refereed', desc: '(property:refereed)', match: 'property:refereed' }, { value: 'property:notrefereed', label: 'Limit to non-refereed', desc: '(property:notrefereed)', match: 'property:notrefereed' }, { value: 'property:notrefereed', label: 'Limit to non-refereed', desc: '(property:notrefereed)', match: 'notrefereed' }, { value: 'property:eprint', label: 'Limit to eprints', desc: '(property:eprint)', match: 'eprint' }, { value: 'property:eprint', label: 'Limit to eprints', desc: '(property:eprint)', match: 'property:eprint' }, { value: 'property:openaccess', label: 'Limit to open access', desc: '(property:openaccess)', match: 'property:openaccess' }, { value: 'property:openaccess', label: 'Limit to open access', desc: '(property:openaccess)', match: 'openaccess' }, { value: 'doctype:software', label: 'Limit to software', desc: '(doctype:software)', match: 'software' }, { value: 'doctype:software', label: 'Limit to software', desc: '(doctype:software)', match: 'doctype:software' }, { value: 'property:inproceedings', label: 'Limit to papers in conference proceedings', desc: '(property:inproceedings)', match: 'proceedings' }, { value: 'property:inproceedings', label: 'Limit to papers in conference proceedings', desc: '(property:inproceedings)', match: 'property:inproceedings' }, { value: 'citations()', label: 'Citations', desc: 'Get papers citing your search result set', match: 'citations(' }, { value: 'references()', label: 'References', desc: 'Get papers referenced by your search result set', match: 'references(' }, { value: 'trending()', label: 'Trending', desc: 'Get papers most read by users who recently read your search result set', match: 'trending(' }, { value: 'reviews()', label: 'Review Articles', desc: 'Get most relevant papers that cite your search result set', match: 'reviews(' }, { value: 'useful()', label: 'Useful', desc: 'Get papers most frequently cited by your search result set', match: 'useful(' }, { value: 'similar()', label: 'Similar', desc: 'Get papers that have similar full text to your search result set', match: 'similar(' }, ]; // initiate the autocomplete function on the "q" element, and pass along the operators array as possible autocomplete values: inputBox = document.getElementById("q") if (inputBox) { inputBox.focus() // autofucs inputBox.setSelectionRange(inputBox.value.length, inputBox.value.length); // bring cursor to the end autocomplete(inputBox, autoList); } </script> <script> (function() { // turn off no-js if we have javascript document.documentElement.className = document.documentElement.className.replace("no-js", "js"); function getCookie(cname) { var name = cname + "="; var decodedCookie = decodeURIComponent(document.cookie); var ca = decodedCookie.split(';'); for (var i = 0; i < ca.length; i++) { var c = ca[i]; while (c.charAt(0) == ' ') { c = c.substring(1); } if (c.indexOf(name) == 0) { return c.substring(name.length, c.length); } } return ""; } (function() { // looks for the cookie, and sets true if its 'always' const coreCookie = getCookie('core') === 'always'; // only load bumblebee if we detect the core cookie and we are on abstract page if (coreCookie || (!(/^\/abs\//.test(document.location.pathname)) && !coreCookie)) { return; 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