{"id":13882,"date":"2024-11-05T09:19:29","date_gmt":"2024-11-05T08:19:29","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=13882"},"modified":"2024-11-05T09:19:29","modified_gmt":"2024-11-05T08:19:29","slug":"gene-of-the-month-october-pole","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-october-pole\/","title":{"rendered":"Gene of the Month &#8211; October: POLE"},"content":{"rendered":"<p>Errors introduced by DNA polymerase \u03b5 (POLE) during DNA replication contribute significantly to the occurrence of C-to-T mutations at methylated CpG dinucleotides. A study published in <em>Nature Genetics<\/em> reports how researchers revealed this molecular mechanism of CpG&gt;CpT mutagenesis using a novel sequencing-based approach.<\/p>\n<p>Cytosine-to-thymine substitution at CpG dinucleotides is one of the most common mutations and frequently found in tumor and also observed in normal cells. In a previous study the researchers had reported that C-to-T mutations at CpG dinucleotides are particularly frequent in tumor cells with point mutations in POLE. DNA polymerase \u03b5 is an enzyme that synthesizes and proofreads DNA and repairs errors during replication. The catalytic subunit of the enzyme is encoded by the <em>POLE<\/em> gene.<\/p>\n<p>The researchers developed a novel method, polymerase error rate sequencing (PER-seq), that allows to determine the frequency, type and the context of errors caused by DNA polymerases. In addition, they generated a mouse embryonic cell line with a p.P286R POLE mutation, a common mutation in human cancers, and they compared PER-seq signatures with mutation patterns in tumor cells of mice and humans. They discovered that during DNA replication both the mutated tumor-associated DNA polymerase \u03b5 and the wild-type enzyme produce C-to-T mutations, especially at methylated CpG dinucleotides.<\/p>\n[vc_column_text] Tomkova M, McClellan MJ, Crevel G, Shahid AM, Mozumdar N, Tomek J, Shepherd E, Cotterill S, Schuster-B\u00f6ckler B, Kriaucionis S. Human DNA polymerase \u03b5 is a source of C&gt;T mutations at CpG dinucleotides. <em>Nat Genet.<\/em> 2024 Oct 10. doi: 10.1038\/s41588-024-01945-x. Epub ahead of print. [\/vc_column_text]\n[mk_button dimension=&#8221;flat&#8221; size=&#8221;medium&#8221; icon=&#8221;mk-icon-long-arrow-right&#8221; icon_anim=&#8221;side&#8221; url=&#8221;https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/39390083&#8243; target=&#8221;_blank&#8221; bg_color=&#8221;#006699&#8243; btn_hover_bg=&#8221;#000000&#8243; btn_hover_txt_color=&#8221;#ffffff&#8221;]Article in PubMed[\/mk_button][mk_padding_divider size=&#8221;30&#8243;]\n","protected":false},"excerpt":{"rendered":"<p>Errors introduced by DNA polymerase \u03b5 (POLE) during DNA replication contribute significantly to the occurrence of C-to-T mutations at methylated CpG dinucleotides. A study published in Nature Genetics reports how researchers revealed this molecular mechanism of CpG&gt;CpT mutagenesis using a novel sequencing-based approach. Cytosine-to-thymine substitution at CpG dinucleotides is one of the most common mutations [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[54],"tags":[],"class_list":["post-13882","post","type-post","status-publish","format-standard","hentry","category-gene-of-the-month"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Gene of the Month - October: POLE - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"description\" content=\"Errors introduced by DNA polymerase \u03b5 (POLE) during DNA replication contribute significantly to the occurrence of C-to-T mutations at methylated CpG dinucleotides.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-october-pole\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Gene of the Month - October: POLE - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"Errors introduced by DNA polymerase \u03b5 (POLE) during DNA replication contribute significantly to the occurrence of C-to-T mutations at methylated CpG dinucleotides.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-october-pole\/\" \/>\n<meta property=\"og:site_name\" content=\"Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"article:published_time\" content=\"2024-11-05T08:19:29+00:00\" \/>\n<meta name=\"author\" content=\"KB\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"KB\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"2 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-october-pole\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-october-pole\/\"},\"author\":{\"name\":\"KB\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/521bbb2a6ceb55060a1ef5eccb794675\"},\"headline\":\"Gene of the Month &#8211; 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