{"id":10559,"date":"2019-03-28T15:35:30","date_gmt":"2019-03-28T14:35:30","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=10559"},"modified":"2019-03-28T15:35:30","modified_gmt":"2019-03-28T14:35:30","slug":"gene-of-the-month-march-fat1","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-march-fat1\/","title":{"rendered":"Gene of the Month &#8211; March: FAT1"},"content":{"rendered":"<p>Cell-cell adhesion is a fundamental prerequisite for the development of multicellular architecture and is facilitated by specific adhesion molecules. Cadherins, divided into several subfamilies, represent a major protein family acting as such adhesion molecules. FAT1 is a member of the cadherin family and plays an important role in actin dynamics and cell migration, and it regulates cell-cell interactions. The protein is expressed in various fetal epithelia and its expression peaks during embryonal development and diminishes in adult life. Recessive missense mutations in <em>FAT1<\/em> have been associated with an isolated glomerulotubular nephropathy.<\/p>\n<p>In a recent study published in <em>Nature Communications<\/em>, to which also scientists at the Institute of Human Genetics of the University Medical Center G\u00f6ttingen contributed, researchers identified for the first time <em>FAT1<\/em> gene variants as the underlying cause of a novel syndrome manifesting with eye malformations (coloboma) and kidney, skeletal and face anomalies. In their subsequent experiments in mouse and zebrafish models, the researchers investigated the functional effects of the mutations they had detected in five affected families and established that the loss of FAT1 protein function was associated with the development of coloboma in these models. They also showed for the first time that FAT1 is expressed in human primary retinal pigment epithelium cells, implicating a role of FAT1 in optic fissure fusion during embryonal eye development. The results of the study show that <em>FAT1<\/em> is a gene wherein genetic variations have pleiotropic effects: biallelic missense mutations cause a non-syndromic glomerulotubular nephropathy, while homozygous frameshift mutations lead to a multisystem disorder.<\/p>\n[vc_column_text] Lahrouchi N, George A, Ratbi I, [\u2026] Sefiani A. Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly. <em>Nat Commun<\/em>. 2019 Mar 12;10(1):1180. [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\/30862798&#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>Cell-cell adhesion is a fundamental prerequisite for the development of multicellular architecture and is facilitated by specific adhesion molecules. Cadherins, divided into several subfamilies, represent a major protein family acting as such adhesion molecules. FAT1 is a member of the cadherin family and plays an important role in actin dynamics and cell migration, and it [&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-10559","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 - March: FAT1 - Institut f\u00fcr Humangenetik<\/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:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-march-fat1\/\" \/>\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 - March: FAT1 - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"Cell-cell adhesion is a fundamental prerequisite for the development of multicellular architecture and is facilitated by specific adhesion molecules. 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