{"id":12210,"date":"2021-11-02T08:44:06","date_gmt":"2021-11-02T07:44:06","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=12210"},"modified":"2021-11-02T08:44:06","modified_gmt":"2021-11-02T07:44:06","slug":"gene-of-the-month-october-onecut1","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-october-onecut1\/","title":{"rendered":"Gene of the Month &#8211; October: ONECUT1"},"content":{"rendered":"<p>Variants in the gene <em>ONECUT1<\/em> cause both, dominant and recessive forms of monogenic diabetes mellitus and are also involved in the development of multifactorial diabetes. These are results of an international study recently published in <em>Nature Medicine<\/em>. By comprehensive genetic studies and functional investigations using, among others, induced pluripotent stem cells, researchers unravelled the importance of <em>one cut homeobox 1<\/em>, the protein encoded by <em>ONECUT1<\/em>, in the proper development and functioning of the pancreas.<\/p>\n<p>In this study, causative homozygous mutations in <em>ONECUT1<\/em> were identified in two unrelated patients with a severe form of neonatal syndromic diabetes. In family members carrying the mutations in heterozygous state, they resulted in early-onset diabetes manifesting in early adulthood. The study also found that common variants in regulatory regions of <em>ONECUT1<\/em> are associated with multifactorial type-2 diabetes. On a molecular level, the researchers detected that the identified mutations impair the formation of pancreatic progenitor cells and the function of insulin-producing beta cells. They also altered expression of other transcription factors (NKX2.2, NKX6.1) that are also essential in pancreatic development.<\/p>\n[vc_column_text] Philippi A, Heller S, Costa IG, \u2026 Kleger A. Mutations and variants of ONECUT1 in diabetes. <em>Nat Med<\/em>. 2021 Oct 18. doi: 10.1038\/s41591-021-01502-7. 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\/34663987&#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>Variants in the gene ONECUT1 cause both, dominant and recessive forms of monogenic diabetes mellitus and are also involved in the development of multifactorial diabetes. These are results of an international study recently published in Nature Medicine. By comprehensive genetic studies and functional investigations using, among others, induced pluripotent stem cells, researchers unravelled the importance [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[54],"tags":[],"class_list":["post-12210","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: ONECUT1 - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"description\" content=\"Variants in the gene ONECUT1 cause both, dominant and recessive forms of monogenic diabetes mellitus and are also involved in the development of multifactorial diabetes.\" \/>\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-onecut1\/\" \/>\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: ONECUT1 - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"Variants in the gene ONECUT1 cause both, dominant and recessive forms of monogenic diabetes mellitus and are also involved in the development of multifactorial diabetes.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-october-onecut1\/\" \/>\n<meta property=\"og:site_name\" content=\"Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"article:published_time\" content=\"2021-11-02T07:44:06+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=\"1 minute\" \/>\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-onecut1\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-october-onecut1\/\"},\"author\":{\"name\":\"KB\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/521bbb2a6ceb55060a1ef5eccb794675\"},\"headline\":\"Gene of the Month &#8211; 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