{"id":1875,"date":"2023-08-07T13:23:17","date_gmt":"2023-08-07T13:23:17","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1875"},"modified":"2026-02-22T23:59:41","modified_gmt":"2026-02-22T23:59:41","slug":"germline-hpf1-retrogene-insertion-in-rb1-gene-involved-in-cancer-predisposition","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2023\/08\/07\/germline-hpf1-retrogene-insertion-in-rb1-gene-involved-in-cancer-predisposition\/","title":{"rendered":"Germline HPF1 retrogene insertion in RB1 gene involved in cancer predisposition (Contributed by Jessica Le Gall)"},"content":{"rendered":"<p>About half of the human genome is composed of repeated sequences derived from mobile elements, generally without pathogenic effect. These include retrogenes, which derive from mRNAs retrotransposed into the genome and may encode functional proteins. Transposition of mobile elements are important elements involved in the evolution of species. Germline pathogenic variants in <em>RB1<\/em> gene confer a high risk of retinoblastoma, the most frequent intraocular tumor in children. Here, we described the first report of a full-length retrogene insertion involved in human monogenic disease, as it leads to a chimeric transcript and a non-functional chimeric protein: the insertion of <em>HPF1<\/em> retrogene in <em>RB1<\/em> gene resulting in cancer predisposition. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2023\/08\/04\/jmg-2022-109105\">https:\/\/jmg.bmj.com\/content\/early\/2023\/08\/04\/jmg-2022-109105<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/08\/07\/germline-hpf1-retrogene-insertion-in-rb1-gene-involved-in-cancer-predisposition\/untitled-68\/\" rel=\"attachment wp-att-1876\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1876\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/08\/Untitled-300x228.png\" alt=\"\" width=\"300\" height=\"228\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/08\/Untitled-300x228.png 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/08\/Untitled-1024x779.png 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/08\/Untitled-768x584.png 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/08\/Untitled-640x487.png 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/08\/Untitled.png 1155w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>About half of the human genome is composed of repeated sequences derived from mobile elements, generally without pathogenic effect. These include retrogenes, which derive from mRNAs retrotransposed into the genome and may encode functional proteins. Transposition of mobile elements are important elements involved in the evolution of species. Germline pathogenic variants in RB1 gene confer [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/08\/07\/germline-hpf1-retrogene-insertion-in-rb1-gene-involved-in-cancer-predisposition\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1875","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Germline HPF1 retrogene insertion in RB1 gene involved in cancer predisposition (Contributed by Jessica Le Gall) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/08\/07\/germline-hpf1-retrogene-insertion-in-rb1-gene-involved-in-cancer-predisposition\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Germline HPF1 retrogene insertion in RB1 gene involved in cancer predisposition (Contributed by Jessica Le Gall) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"About half of the human genome is composed of repeated sequences derived from mobile elements, generally without pathogenic effect. These include retrogenes, which derive from mRNAs retrotransposed into the genome and may encode functional proteins. Transposition of mobile elements are important elements involved in the evolution of species. Germline pathogenic variants in RB1 gene confer [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2023\/08\/07\/germline-hpf1-retrogene-insertion-in-rb1-gene-involved-in-cancer-predisposition\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2023-08-07T13:23:17+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T23:59:41+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/08\/Untitled.png\" \/>\n\t<meta property=\"og:image:width\" content=\"1155\" \/>\n\t<meta property=\"og:image:height\" content=\"879\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/08\\\/07\\\/germline-hpf1-retrogene-insertion-in-rb1-gene-involved-in-cancer-predisposition\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/08\\\/07\\\/germline-hpf1-retrogene-insertion-in-rb1-gene-involved-in-cancer-predisposition\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Germline HPF1 retrogene insertion in RB1 gene involved in cancer predisposition (Contributed by Jessica Le Gall)\",\"datePublished\":\"2023-08-07T13:23:17+00:00\",\"dateModified\":\"2026-02-22T23:59:41+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/08\\\/07\\\/germline-hpf1-retrogene-insertion-in-rb1-gene-involved-in-cancer-predisposition\\\/\"},\"wordCount\":131,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/08\\\/07\\\/germline-hpf1-retrogene-insertion-in-rb1-gene-involved-in-cancer-predisposition\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2023\\\/08\\\/Untitled-300x228.png\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/08\\\/07\\\/germline-hpf1-retrogene-insertion-in-rb1-gene-involved-in-cancer-predisposition\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/08\\\/07\\\/germline-hpf1-retrogene-insertion-in-rb1-gene-involved-in-cancer-predisposition\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/08\\\/07\\\/germline-hpf1-retrogene-insertion-in-rb1-gene-involved-in-cancer-predisposition\\\/\",\"name\":\"Germline HPF1 retrogene insertion in RB1 gene involved in cancer predisposition (Contributed by Jessica Le Gall) - 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His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Germline HPF1 retrogene insertion in RB1 gene involved in cancer predisposition (Contributed by Jessica Le Gall) - JMG Contact blog","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/blogs.bmj.com\/jmg\/2023\/08\/07\/germline-hpf1-retrogene-insertion-in-rb1-gene-involved-in-cancer-predisposition\/","og_locale":"en_US","og_type":"article","og_title":"Germline HPF1 retrogene insertion in RB1 gene involved in cancer predisposition (Contributed by Jessica Le Gall) - JMG Contact blog","og_description":"About half of the human genome is composed of repeated sequences derived from mobile elements, generally without pathogenic effect. 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Germline pathogenic variants in RB1 gene confer [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2023\/08\/07\/germline-hpf1-retrogene-insertion-in-rb1-gene-involved-in-cancer-predisposition\/","og_site_name":"JMG Contact blog","article_published_time":"2023-08-07T13:23:17+00:00","article_modified_time":"2026-02-22T23:59:41+00:00","og_image":[{"width":1155,"height":879,"url":"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/08\/Untitled.png","type":"image\/png"}],"author":"hqqu","twitter_card":"summary_large_image","twitter_creator":"@HuiQiQu","twitter_misc":{"Written by":"hqqu","Est. reading time":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/blogs.bmj.com\/jmg\/2023\/08\/07\/germline-hpf1-retrogene-insertion-in-rb1-gene-involved-in-cancer-predisposition\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2023\/08\/07\/germline-hpf1-retrogene-insertion-in-rb1-gene-involved-in-cancer-predisposition\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Germline HPF1 retrogene insertion in RB1 gene involved in cancer predisposition (Contributed by Jessica Le Gall)","datePublished":"2023-08-07T13:23:17+00:00","dateModified":"2026-02-22T23:59:41+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2023\/08\/07\/germline-hpf1-retrogene-insertion-in-rb1-gene-involved-in-cancer-predisposition\/"},"wordCount":131,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2023\/08\/07\/germline-hpf1-retrogene-insertion-in-rb1-gene-involved-in-cancer-predisposition\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/08\/Untitled-300x228.png","inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2023\/08\/07\/germline-hpf1-retrogene-insertion-in-rb1-gene-involved-in-cancer-predisposition\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2023\/08\/07\/germline-hpf1-retrogene-insertion-in-rb1-gene-involved-in-cancer-predisposition\/","url":"https:\/\/blogs.bmj.com\/jmg\/2023\/08\/07\/germline-hpf1-retrogene-insertion-in-rb1-gene-involved-in-cancer-predisposition\/","name":"Germline HPF1 retrogene insertion in RB1 gene involved in cancer predisposition (Contributed by Jessica Le Gall) - 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