{"id":11303,"date":"2019-11-05T10:53:21","date_gmt":"2019-11-05T09:53:21","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=11303"},"modified":"2019-11-05T10:53:21","modified_gmt":"2019-11-05T09:53:21","slug":"gene-of-the-month-october-rpl13","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-october-rpl13\/","title":{"rendered":"Gene of the Month &#8211; October: RPL13"},"content":{"rendered":"<p>Variants of the <em>RPL13<\/em> gene have for the first time been identified as genetic cause of a rare skeletal disorder. In the <em>American Journal of Human Genetics<\/em>, the authors describe a role of the RPL13 protein in bone development. RPL13 is a ribosomal protein and a component of the larger of the two ribosomal subunits. Ribosomes, the molecular machines responsible for protein synthesis, consist of a small 40S unit and a larger 60S unit. Together, they are composed of four ribosomal RNA species and about 80 structurally distinct proteins. So far, variants in ribosomal genes have been associated with Diamond-Blackfan anemia, a rare congenital bone marrow disorder, and with isolated congenital asplenia.<\/p>\n<p>Now the current study reports on four <em>de novo<\/em> variants of <em>RPL13<\/em> discovered to underlie a rare bone disorder in four patients with severe short stature. In further functional analyses, the researchers showed that, in contrast to observations from Diamond-Blackfan anemia, there was no significant disturbance in pre-rRNA processing. The altered protein showed stable expression and integration into 60S subunits. They found, however, indications for changes in translation dynamics. Also, elevated RPL13 levels were present in chrondocytes and osteoblasts in the mouse.<\/p>\n[vc_column_text] Le Caignec C, Ory B, Lamoureux F, \u2026, Isidor B. RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature. <em>Am J Hum Genet.<\/em> 2019 Oct 14. pii: S0002-9297(19)30364-7. doi: 10.1016\/j.ajhg.2019.09.024. [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\/31630789&#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 of the RPL13 gene have for the first time been identified as genetic cause of a rare skeletal disorder. In the American Journal of Human Genetics, the authors describe a role of the RPL13 protein in bone development. RPL13 is a ribosomal protein and a component of the larger of the two ribosomal subunits. [&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-11303","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: RPL13 - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"description\" content=\"RPL13 encodes a ribosomal protein. Variants of the RPL13 gene have for the first time been identified as genetic cause of a rare skeletal disorder.\" \/>\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-rpl13\/\" \/>\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: RPL13 - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"RPL13 encodes a ribosomal protein. Variants of the RPL13 gene have for the first time been identified as genetic cause of a rare skeletal disorder.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-october-rpl13\/\" \/>\n<meta property=\"og:site_name\" content=\"Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"article:published_time\" content=\"2019-11-05T09:53:21+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-rpl13\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-october-rpl13\/\"},\"author\":{\"name\":\"KB\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/521bbb2a6ceb55060a1ef5eccb794675\"},\"headline\":\"Gene of the Month &#8211; October: RPL13\",\"datePublished\":\"2019-11-05T09:53:21+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-october-rpl13\/\"},\"wordCount\":280,\"commentCount\":0,\"articleSection\":[\"Gene of the Month\"],\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-october-rpl13\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-october-rpl13\/\",\"url\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-october-rpl13\/\",\"name\":\"Gene of the Month - October: RPL13 - Institut f\u00fcr Humangenetik\",\"isPartOf\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#website\"},\"datePublished\":\"2019-11-05T09:53:21+00:00\",\"author\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/521bbb2a6ceb55060a1ef5eccb794675\"},\"description\":\"RPL13 encodes a ribosomal protein. Variants of the RPL13 gene have for the first time been identified as genetic cause of a rare skeletal disorder.\",\"breadcrumb\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-october-rpl13\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-october-rpl13\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-october-rpl13\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\/\/www.humangenetik-umg.de\/en\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Gene of the Month &#8211; October: RPL13\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#website\",\"url\":\"https:\/\/www.humangenetik-umg.de\/en\/\",\"name\":\"Institut f\u00fcr Humangenetik\",\"description\":\"Institut f\u00fcr Humangenetik der Universit\u00e4tsmedizin G\u00f6ttingen\",\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\/\/www.humangenetik-umg.de\/en\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"en-US\"},{\"@type\":\"Person\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/521bbb2a6ceb55060a1ef5eccb794675\",\"name\":\"KB\",\"image\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/image\/\",\"url\":\"https:\/\/secure.gravatar.com\/avatar\/599107e4ecdfb329c5aa3823e054ce14?s=96&d=mm&r=g\",\"contentUrl\":\"https:\/\/secure.gravatar.com\/avatar\/599107e4ecdfb329c5aa3823e054ce14?s=96&d=mm&r=g\",\"caption\":\"KB\"},\"url\":\"https:\/\/www.humangenetik-umg.de\/en\/author\/boss\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Gene of the Month - October: RPL13 - Institut f\u00fcr Humangenetik","description":"RPL13 encodes a ribosomal protein. Variants of the RPL13 gene have for the first time been identified as genetic cause of a rare skeletal disorder.","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-october-rpl13\/","og_locale":"en_US","og_type":"article","og_title":"Gene of the Month - October: RPL13 - Institut f\u00fcr Humangenetik","og_description":"RPL13 encodes a ribosomal protein. Variants of the RPL13 gene have for the first time been identified as genetic cause of a rare skeletal disorder.","og_url":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-october-rpl13\/","og_site_name":"Institut f\u00fcr Humangenetik","article_published_time":"2019-11-05T09:53:21+00:00","author":"KB","twitter_card":"summary_large_image","twitter_misc":{"Written by":"KB","Est. reading time":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-october-rpl13\/#article","isPartOf":{"@id":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-october-rpl13\/"},"author":{"name":"KB","@id":"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/521bbb2a6ceb55060a1ef5eccb794675"},"headline":"Gene of the Month &#8211; October: RPL13","datePublished":"2019-11-05T09:53:21+00:00","mainEntityOfPage":{"@id":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-october-rpl13\/"},"wordCount":280,"commentCount":0,"articleSection":["Gene of the Month"],"inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-october-rpl13\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-october-rpl13\/","url":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-october-rpl13\/","name":"Gene of the Month - October: RPL13 - Institut f\u00fcr Humangenetik","isPartOf":{"@id":"https:\/\/www.humangenetik-umg.de\/en\/#website"},"datePublished":"2019-11-05T09:53:21+00:00","author":{"@id":"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/521bbb2a6ceb55060a1ef5eccb794675"},"description":"RPL13 encodes a ribosomal protein. Variants of the RPL13 gene have for the first time been identified as genetic cause of a rare skeletal disorder.","breadcrumb":{"@id":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-october-rpl13\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-october-rpl13\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-october-rpl13\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/www.humangenetik-umg.de\/en\/"},{"@type":"ListItem","position":2,"name":"Gene of the Month &#8211; October: RPL13"}]},{"@type":"WebSite","@id":"https:\/\/www.humangenetik-umg.de\/en\/#website","url":"https:\/\/www.humangenetik-umg.de\/en\/","name":"Institut f\u00fcr Humangenetik","description":"Institut f\u00fcr Humangenetik der Universit\u00e4tsmedizin G\u00f6ttingen","potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/www.humangenetik-umg.de\/en\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-US"},{"@type":"Person","@id":"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/521bbb2a6ceb55060a1ef5eccb794675","name":"KB","image":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/image\/","url":"https:\/\/secure.gravatar.com\/avatar\/599107e4ecdfb329c5aa3823e054ce14?s=96&d=mm&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/599107e4ecdfb329c5aa3823e054ce14?s=96&d=mm&r=g","caption":"KB"},"url":"https:\/\/www.humangenetik-umg.de\/en\/author\/boss\/"}]}},"_links":{"self":[{"href":"https:\/\/www.humangenetik-umg.de\/en\/wp-json\/wp\/v2\/posts\/11303","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.humangenetik-umg.de\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.humangenetik-umg.de\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.humangenetik-umg.de\/en\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/www.humangenetik-umg.de\/en\/wp-json\/wp\/v2\/comments?post=11303"}],"version-history":[{"count":0,"href":"https:\/\/www.humangenetik-umg.de\/en\/wp-json\/wp\/v2\/posts\/11303\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.humangenetik-umg.de\/en\/wp-json\/wp\/v2\/media?parent=11303"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.humangenetik-umg.de\/en\/wp-json\/wp\/v2\/categories?post=11303"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.humangenetik-umg.de\/en\/wp-json\/wp\/v2\/tags?post=11303"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}