{"id":11592,"date":"2020-08-03T10:36:15","date_gmt":"2020-08-03T08:36:15","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=11592"},"modified":"2020-08-03T10:36:35","modified_gmt":"2020-08-03T08:36:35","slug":"gene-of-the-month-july-mapk1","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-july-mapk1\/","title":{"rendered":"Gene of the Month &#8211; July: MAPK1"},"content":{"rendered":"<p><em>De novo<\/em> variants of the <em>MAPK1<\/em> gene have been identified as underlying a novel neurodevelopmental disorder within the clinical spectrum of rasopathies. This family of genetic disorders includes for example Noonan syndrome and other very rare syndromes. <em>MAPK1<\/em> codes for ERK2, a MAP kinase. Mitogen-activated kinases, or MAP kinases, are protein kinases acting in several multi-step phosphorylation cascades that mediate nearly all cellular processes. One of these cascades is the RAS-MAPK signaling pathway, which plays an important role in cell growth and differentiation. The term rasopathies refers to a group of rare disorders in which genetic defects result in hyperactivation of RAS-MAPK signaling.<\/p>\n<p>In their study published in <em>The American Journal of Human Genetics<\/em>, the researchers identified <em>de novo<\/em> missense variants of <em>MAPK1<\/em> in seven patients who presented with a neurodevelopmental disorder that in some cases overlapped with Noonan syndrome. Functional experiments in cell lines and an animal model demonstrated that the identified variants led to increased phosphorylation of the kinase and enhanced MAPK signaling (as is also described for other rasopathies). The researchers further discovered that the variants impact on MAPK1 function in a stimulus-dependent manner by two mechanisms with counteracting effects.<\/p>\n[vc_column_text] Motta M, Pannone L, Pantaleoni F, \u2026 Tartaglia M. Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum. <em>Am J Hum Genet.<\/em> 2020 Jul 20:S0002-9297(20)30227-5. doi: 10.1016\/j.ajhg.2020.06.018. Online 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\/32721402&#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>De novo variants of the MAPK1 gene have been identified as underlying a novel neurodevelopmental disorder within the clinical spectrum of rasopathies. This family of genetic disorders includes for example Noonan syndrome and other very rare syndromes. MAPK1 codes for ERK2, a MAP kinase. Mitogen-activated kinases, or MAP kinases, are protein kinases acting in several [&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-11592","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: MAPK1 - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"description\" content=\"MAPK1 gene variants have been identified as underlying a novel neurodevelopmental disorder within the clinical spectrum of rasopathies.\" \/>\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-mapk1\/\" \/>\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: MAPK1 - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"MAPK1 gene variants have been identified as underlying a novel neurodevelopmental disorder within the clinical spectrum of rasopathies.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-july-mapk1\/\" \/>\n<meta property=\"og:site_name\" content=\"Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"article:published_time\" content=\"2020-08-03T08:36:15+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2020-08-03T08:36:35+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-july-mapk1\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-july-mapk1\/\"},\"author\":{\"name\":\"KB\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/2273960540ea0d585310d12c8277e5cb\"},\"headline\":\"Gene of the Month &#8211; 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