{"id":9256,"date":"2017-09-04T11:52:19","date_gmt":"2017-09-04T09:52:19","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/gene-des-monats-august-keops-komplex-gene\/"},"modified":"2017-10-05T10:52:34","modified_gmt":"2017-10-05T08:52:34","slug":"gene-of-the-month-august-keops-complex-genes","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-august-keops-complex-genes\/","title":{"rendered":"Gene(s) of the Month \u2013 August: KEOPS complex genes OSGEP, TP53RK, TPRKB and LAGE3"},"content":{"rendered":"<p>The so-called KEOPS protein complex has been implicated in a range of functions. Among others, it regulates a chemical modification of tRNA which ensures accurate translation, and it also acts in the control of genome maintenance and DNA damage-response processes. Variants in <em>OSGEP<\/em>, <em>TP53RK<\/em>, <em>TPRKB<\/em> and <em>LAGE3<\/em>, the genes encoding the four subunits of the KEOPS complex, have now been identified to be associated with the human disorder of Galloway-Mowat syndrome (GOWAS). This is a very rare, autosomal-recessively inherited disease characterized by a combination of early-onset nephrotic syndrome, primary microcephaly, developmental delay and structural brain anomalies.<\/p>\n<p>As a large international research group including the team of Martin Zenker, director of the Institute of Human Genetics at the University of Magdeburg, now reports in <em>Nature Genetics<\/em>, they studied 91 patients with GOWAS and discovered recessive mutations in the KEOPS genes in 37 individuals from 32 families. In their functional analyses using, for example, CRISPR-Cas9 knockout in zebrafish and mice, they then investigated the effects of the loss of protein function resulting from the identified mutations. They found that inactivation of the genes recapitulated the human phenotype in the animal models and caused disturbed translation, endosplasmic reticulum stress, activated DNA-damage-response signaling and ultimately apoptosis. Knockdown of <em>OSGEP<\/em> and <em>TP53RK<\/em> resulted in defects in the actin cytoskeleton and a decrease of human podocyte migration rate, which is also a manifestation in the development of nephrotic syndrome. With they work, the researchers thus established a link between KEOPS complex function and human disease and they identified four novel genes associated with Galloway-Mowat syndrome.<\/p>\n[vc_column_text] Braun DA, Rao J, Mollet G, \u2026 Hildebrandt F. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. <em>Nat Genet<\/em>. 2017 Aug 14. doi: 10.1038\/ng.3933. [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\/28805828&#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>The so-called KEOPS protein complex has been implicated in a range of functions. Among others, it regulates a chemical modification of tRNA which ensures accurate translation, and it also acts in the control of genome maintenance and DNA damage-response processes. Variants in OSGEP, TP53RK, TPRKB and LAGE3, the genes encoding the four subunits of the [&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-9256","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(s) of the Month \u2013 August: KEOPS complex genes OSGEP, TP53RK, TPRKB and LAGE3 - 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-august-keops-complex-genes\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Gene(s) of the Month \u2013 August: KEOPS complex genes OSGEP, TP53RK, TPRKB and LAGE3 - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"The so-called KEOPS protein complex has been implicated in a range of functions. 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