{"id":13648,"date":"2024-08-02T13:04:17","date_gmt":"2024-08-02T11:04:17","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=13648"},"modified":"2024-08-02T13:04:17","modified_gmt":"2024-08-02T11:04:17","slug":"gene-of-the-month-july-bap1","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-july-bap1\/","title":{"rendered":"Gene of the Month &#8211; July: BAP1"},"content":{"rendered":"<p>Using the method of saturation genome editing (SGE), researchers have assessed the functional impact of 99% of all possible single nucleotide variants in the coding sequence of the <em>BAP1<\/em> gene. SGE is a technique that uses CRISPR\/Cas genome editing to produce cells that each carry one of all theoretically possible variants of a particular gene. The cells are then tested for their fitness and for each variant a functional score is determined to help evaluate whether individual variants will indeed cause disease.<\/p>\n<p><em>BAP1<\/em> is a tumor suppressor gene and encodes BRCA1-associated protein 1, a deubiquitinase involved in the control of essential cellular processes like cell proliferation and differentiation, transcription, and DNA repair. Somatic mutations in <em>BAP1<\/em> have been described in a variety of very aggressive tumors. Germline mutations in <em>BAP1<\/em> cause a hereditary tumor predisposition syndrome and, interestingly, have also been linked to a neurodevelopmental disorder.<\/p>\n<p>The authors of the study published in <em>Nature Genetics<\/em> also performed association studies using databases as for example the UK Biobank. They found that variants identified by them as disruptive were associated significantly with increased frequency of cancer and, independently, with higher levels of the circulating growth factor IGF-1. These results may suggest a potential pathomechanism and a target for a future approach to treat BAP1-associated conditions.<\/p>\n[vc_column_text]Waters AJ, Brendler-Spaeth T, Smith D, \u2026, Adams DJ. Saturation genome editing of BAP1 functionally classifies somatic and germline variants. <em>Nat Genet.<\/em> 2024 Jul;56(7):1434-1445. doi: 10.1038\/s41588-024-01799-3. Epub 2024 Jul 5. [\/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\/38969833&#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>Using the method of saturation genome editing (SGE), researchers have assessed the functional impact of 99% of all possible single nucleotide variants in the coding sequence of the BAP1 gene. SGE is a technique that uses CRISPR\/Cas genome editing to produce cells that each carry one of all theoretically possible variants of a particular gene. [&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-13648","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 - July: BAP1 - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"description\" content=\"Using the method of saturation genome editing (SGE), researchers have assessed the functional impact of 99% of all possible single nucleotide variants in the coding sequnce of the BAP1 gene.\" \/>\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-july-bap1\/\" \/>\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 - July: BAP1 - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"Using the method of saturation genome editing (SGE), researchers have assessed the functional impact of 99% of all possible single nucleotide variants in the coding sequnce of the BAP1 gene.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-july-bap1\/\" \/>\n<meta property=\"og:site_name\" content=\"Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"article:published_time\" content=\"2024-08-02T11:04:17+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-july-bap1\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-july-bap1\/\"},\"author\":{\"name\":\"KB\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/521bbb2a6ceb55060a1ef5eccb794675\"},\"headline\":\"Gene of the Month &#8211; 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