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<!DOCTYPE html> <html > <head> <meta charset="utf-8"> <meta rel="search" type="application/opensearchdescription+xml" href="/open_search.xml" title="Academia.edu"> <meta content="width=device-width, initial-scale=1" name="viewport"> <meta name="google-site-verification" content="bKJMBZA7E43xhDOopFZkssMMkBRjvYERV-NaN4R6mrs"> <meta name="csrf-param" content="authenticity_token" /> <meta name="csrf-token" content="fnCZ6iiQHBpqU44/d9MvTud9ZSWmf5+Kc/w8LIzJY9HkWFl/GtQmDbyl2VldGhnMOLDCuIi5zEwxiAUDUeYwIg==" /> <meta name="twitter:card" content="summary" /> <meta name="twitter:url" content="https://www.academia.edu/21145123/An_Expressed_Retrogene_of_the_Master_Embryonic_Stem_Cell_Gene_POU5F1_Is_Associated_with_Prostate_Cancer_Susceptibility" /> <meta name="twitter:title" content="An Expressed Retrogene of the Master Embryonic Stem Cell Gene POU5F1 Is Associated with Prostate Cancer Susceptibility" /> <meta name="twitter:description" content="Genetic association studies of prostate and other cancers have identified a major risk locus at chromosome 8q24. Several independent risk variants at this locus alter transcriptional regulatory elements, but an affected gene and mechanism for cancer" /> <meta name="twitter:image" content="http://a.academia-assets.com/images/twitter-card.jpeg" /> <meta property="fb:app_id" content="2369844204" /> <meta property="og:type" content="article" /> <meta property="og:url" content="https://www.academia.edu/21145123/An_Expressed_Retrogene_of_the_Master_Embryonic_Stem_Cell_Gene_POU5F1_Is_Associated_with_Prostate_Cancer_Susceptibility" /> <meta property="og:title" content="An Expressed Retrogene of the Master Embryonic Stem Cell Gene POU5F1 Is Associated with Prostate Cancer Susceptibility" /> <meta property="og:image" content="http://a.academia-assets.com/images/open-graph-icons/fb-paper.gif" /> <meta property="og:description" content="Genetic association studies of prostate and other cancers have identified a major risk locus at chromosome 8q24. Several independent risk variants at this locus alter transcriptional regulatory elements, but an affected gene and mechanism for cancer" /> <meta property="article:author" content="https://independent.academia.edu/WilliamDupont4" /> <meta name="description" content="Genetic association studies of prostate and other cancers have identified a major risk locus at chromosome 8q24. Several independent risk variants at this locus alter transcriptional regulatory elements, but an affected gene and mechanism for cancer" /> <meta name="robots" content="noindex" /> <title>An Expressed Retrogene of the Master Embryonic Stem Cell Gene POU5F1 Is Associated with Prostate Cancer Susceptibility | William Dupont - Academia.edu</title> <link rel="canonical" href="https://www.academia.edu/21145123/An_Expressed_Retrogene_of_the_Master_Embryonic_Stem_Cell_Gene_POU5F1_Is_Associated_with_Prostate_Cancer_Susceptibility" /> <script async src="https://www.googletagmanager.com/gtag/js?id=G-5VKX33P2DS"></script> <script> window.dataLayer = window.dataLayer || []; function gtag(){dataLayer.push(arguments);} gtag('js', new Date()); gtag('config', 'G-5VKX33P2DS', { cookie_domain: 'academia.edu', send_page_view: false, }); gtag('event', 'page_view', { 'controller': "single_work", 'action': "show", 'controller_action': 'single_work#show', 'logged_in': 'false', 'edge': 'unknown', // Send nil if there is no A/B test bucket, in case some records get logged // with missing data - that way we can distinguish between the two cases. // ab_test_bucket should be of the form <ab_test_name>:<bucket> 'ab_test_bucket': null, }) </script> <script> var $controller_name = 'single_work'; var $action_name = "show"; var $rails_env = 'production'; var $app_rev = '49879c2402910372f4abc62630a427bbe033d190'; var $domain = 'academia.edu'; var $app_host = "academia.edu"; var $asset_host = "academia-assets.com"; var $start_time = new Date().getTime(); var $recaptcha_key = "6LdxlRMTAAAAADnu_zyLhLg0YF9uACwz78shpjJB"; var $recaptcha_invisible_key = "6Lf3KHUUAAAAACggoMpmGJdQDtiyrjVlvGJ6BbAj"; var $disableClientRecordHit = false; </script> <script> window.require = { config: function() { return function() {} } } </script> <script> window.Aedu = window.Aedu || {}; window.Aedu.hit_data = null; window.Aedu.serverRenderTime = new Date(1732384192000); window.Aedu.timeDifference = new Date().getTime() - 1732384192000; </script> <script type="application/ld+json">{"@context":"https://schema.org","@type":"ScholarlyArticle","abstract":"Genetic association studies of prostate and other cancers have identified a major risk locus at chromosome 8q24. Several independent risk variants at this locus alter transcriptional regulatory elements, but an affected gene and mechanism for cancer predisposition have remained elusive. The retrogene POU5F1B within the locus has a preserved open reading frame encoding a homolog of the master embryonic stem cell transcription factor Oct4. We find that 8q24 risk alleles are expression quantitative trait loci correlated with reduced expression of POU5F1B in prostate tissue and that predicted deleterious POU5F1B missense variants are also associated with risk of transformation. POU5F1 is known to be self-regulated by the encoded Oct4 transcription factor. We further observe that POU5F1 expression is directly correlated with POU5F1B expression. Our results suggest that a pathway critical to self-renewal of embryonic stem cells may also have a role in the origin of cancer.","author":[{"@context":"https://schema.org","@type":"Person","name":"William Dupont"}],"contributor":[],"dateCreated":"2016-01-29","dateModified":"2021-09-20","datePublished":"2014-01-01","headline":"An Expressed Retrogene of the Master Embryonic Stem Cell Gene POU5F1 Is Associated with Prostate Cancer Susceptibility","inLanguage":"en","keywords":["Risk","Adolescent","Biological Sciences","Humans","Haplotypes","Male","Young Adult","Embryonic Stem Cells","Aged","Middle Aged","Cell nucleus","Genotype","Adult","Quantitative Trait Loci","Genetic variation","Case Control Studies"],"locationCreated":null,"publication":"The American Journal of Human Genetics","publisher":{"@context":"https://schema.org","@type":"Organization","name":"Elsevier 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window.loswp.shouldDetectTimezone = true; window.loswp.shouldShowBulkDownload = true; window.loswp.showSignupCaptcha = false window.loswp.willEdgeCache = false; window.loswp.work = {"work":{"id":21145123,"created_at":"2016-01-29T07:44:38.282-08:00","from_world_paper_id":147455653,"updated_at":"2021-01-17T19:29:21.112-08:00","_data":{"abstract":"Genetic association studies of prostate and other cancers have identified a major risk locus at chromosome 8q24. Several independent risk variants at this locus alter transcriptional regulatory elements, but an affected gene and mechanism for cancer predisposition have remained elusive. The retrogene POU5F1B within the locus has a preserved open reading frame encoding a homolog of the master embryonic stem cell transcription factor Oct4. We find that 8q24 risk alleles are expression quantitative trait loci correlated with reduced expression of POU5F1B in prostate tissue and that predicted deleterious POU5F1B missense variants are also associated with risk of transformation. POU5F1 is known to be self-regulated by the encoded Oct4 transcription factor. We further observe that POU5F1 expression is directly correlated with POU5F1B expression. 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Smith</div></div></div><div class="work-card--author-blurb"><div class="work-card--author-photo-wrapper"><img class="Avatar--circle s65 Avatar--xxxs" shape="circle" border="0" alt="" src="//a.academia-assets.com/images/s65_no_pic.png" /></div><div class="work-card--author-name-wrapper" style="max-width: 125px;"><div class="u-fontStyleItalic u-textTruncate">Sam Chang</div></div></div></div><div class="work-card--no-attachment-details"><div style="font-weight: 700; font-size: 14px;">Abstract</div><div class="work-card--abstract js-swp-splash-abstract">Genetic association studies of prostate and other cancers have identified a major risk locus at chromosome 8q24. Several independent risk variants at this locus alter transcriptional regulatory elements, but an affected gene and mechanism for cancer predisposition have remained elusive. The retrogene POU5F1B within the locus has a preserved open reading frame encoding a homolog of the master embryonic stem cell transcription factor Oct4. We find that 8q24 risk alleles are expression quantitative trait loci correlated with reduced expression of POU5F1B in prostate tissue and that predicted deleterious POU5F1B missense variants are also associated with risk of transformation. POU5F1 is known to be self-regulated by the encoded Oct4 transcription factor. We further observe that POU5F1 expression is directly correlated with POU5F1B expression. Our results suggest that a pathway critical to self-renewal of embryonic stem cells may also have a role in the origin of cancer.</div></div><div class="request-upload--container"><p class="request-upload--title">William Dupont hasn't uploaded this paper.</p><div class="request-upload--info-text"><svg aria-hidden="true" focusable="false" data-prefix="fas" data-icon="info-circle" class="request-upload--info-icon svg-inline--fa fa-info-circle fa-w-16" role="img" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 512 512"><path fill="currentColor" d="M256 8C119.043 8 8 119.083 8 256c0 136.997 111.043 248 248 248s248-111.003 248-248C504 119.083 392.957 8 256 8zm0 110c23.196 0 42 18.804 42 42s-18.804 42-42 42-42-18.804-42-42 18.804-42 42-42zm56 254c0 6.627-5.373 12-12 12h-88c-6.627 0-12-5.373-12-12v-24c0-6.627 5.373-12 12-12h12v-64h-12c-6.627 0-12-5.373-12-12v-24c0-6.627 5.373-12 12-12h64c6.627 0 12 5.373 12 12v100h12c6.627 0 12 5.373 12 12v24z"></path></svg><p class="no-margin hide-on-small-mobile">Let William know you want this paper to be uploaded.</p><p class="no-margin hide-above-small-mobile">Ask for this paper to be uploaded.</p></div><button class="work-cover--request-pdf-button small js-request-pdf-button hide-on-desktop"><svg style="width: 14px; 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