{"id":10205,"date":"2019-01-04T10:44:53","date_gmt":"2019-01-04T09:44:53","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=10205"},"modified":"2019-01-04T10:44:53","modified_gmt":"2019-01-04T09:44:53","slug":"gene-of-the-month-december-lztr1","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-december-lztr1\/","title":{"rendered":"Gene of the Month &#8211; December: LZTR1"},"content":{"rendered":"<p>Mutations of the <em>LZTR1<\/em> gene are involved in the development of tumors and both, autosomal dominant and autosomal recessive variants have been described to cause Noonan syndrome. Yet, how exactly its encoded protein, leucine zipper\u2013like transcriptional regulator 1, acts has so far remained elusive.<\/p>\n<p>Now two studies published in <em>Science<\/em> shed light on the function of the LZTR1 protein. For one, they showed that in a mouse model heterozygous LZTR1 mutations caused a phenotype that recapitulates various aspects of Noonan syndrome in humans. On a biochemical level, the researchers determined that LZTR1 associates with the small G-protein RAS. It appears to act as an adapter promoting ubiquitination of RAS proteins, thus diminishing signal transduction in the mitogen-activated protein kinase (MAPK) pathway. <em>LZTR1<\/em> mutations, by contrast, seem to decrease ubiquitination of RAS proteins. These results were supplemented by the findings of another study, which demonstrated that loss of LZTR1 protein function led to enhanced RAS activity and MAPK pathway activation and reduced sensitivity to tyrosine kinase inhibitors. The RAS-MAPK pathway is a central signaling cascade that regulates and controls elementary cell functions. The new findings uncovering the functional mechanism of LZTR1 may therefore explain the protein\u2019s involvement in the pathogenesis of various diseases and might be the basis for future development of novel therapeutic approaches.<\/p>\n[vc_column_text] Steklov M, Pandolfi S, Baietti MF, \u2026 Sablina AA. Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination. <em>Science<\/em>. 2018 Dec 7;362(6419):1177-1182. doi: 10.1126\/science.aap7607. [\/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\/30442762&#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[vc_column_text] Bigenzahn JW, Collu GM, Kartnig F, \u2026 Superti-Furga G. LZTR1 is a regulator of RAS ubiquitination and signaling. <em>Science<\/em>. 2018 Dec 7;362(6419):1171-1177. doi: 10.1126\/science.aap8210. [\/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\/30442766&#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>Mutations of the LZTR1 gene are involved in the development of tumors and both, autosomal dominant and autosomal recessive variants have been described to cause Noonan syndrome. Yet, how exactly its encoded protein, leucine zipper\u2013like transcriptional regulator 1, acts has so far remained elusive. Now two studies published in Science shed light on the function [&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-10205","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 - December: LZTR1 - 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-december-lztr1\/\" \/>\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 - December: LZTR1 - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"Mutations of the LZTR1 gene are involved in the development of tumors and both, autosomal dominant and autosomal recessive variants have been described to cause Noonan syndrome. 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