{"id":11911,"date":"2021-03-02T14:06:52","date_gmt":"2021-03-02T13:06:52","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=11911"},"modified":"2021-03-02T14:06:52","modified_gmt":"2021-03-02T13:06:52","slug":"gene-of-the-month-february-en1","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-february-en1\/","title":{"rendered":"Gene of the Month &#8211; February: EN1"},"content":{"rendered":"<p>Dysregulated expression of the gene <em>EN1<\/em>, or engrailed-1, due to a remarkable genetic mechanism, leads to a rare congenital disorder with severe limb malformations. This is reported in <em>Nature<\/em> by an international team of researchers from Charit\u00e9 Berlin, Switzerland, Brazil and other countries. They discovered a DNA region 300 kilobases away from EN1 which carries the information for a long non-coding RNA and is apparently needed for correct activation of the gene in limbs. At the start of their study, they investigated patients with complex malformations including severe shortening and deformation of the legs and feet and conjoined fingers. In the patients&#8217; genomes, the researchers uncovered homozygous deletions on chromosome 2, spanning 27 to 63 kb, which affected the locus of a long noncoding RNA.<\/p>\n<p>Long noncoding RNAs can be important components in gene regulation networks, but our knowledge about their precise role in the development of diseases has so far been very limited. A mouse model generated with the identified deletion in the study recapitulated the patients&#8217; phenotype, and detailed functional analyses demonstrated that the deletion caused a complete loss of En1 activity in the limbs. Similar mechanisms involving long noncoding RNAs might be revealed in future in the development of other human diseases.<\/p>\n[vc_column_text] Allou L, Balzano S, Magg A, \u2026 Mundlos S, Superti-Furga A. Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. <em>Nature<\/em>. 2021 Feb 10. doi: 10.1038\/s41586-021-03208-9. 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\/33568816&#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>Dysregulated expression of the gene EN1, or engrailed-1, due to a remarkable genetic mechanism, leads to a rare congenital disorder with severe limb malformations. This is reported in Nature by an international team of researchers from Charit\u00e9 Berlin, Switzerland, Brazil and other countries. They discovered a DNA region 300 kilobases away from EN1 which carries [&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-11911","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 - February: EN1 - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"description\" content=\"EN1 dysregulation by remarkable genetic mechanism involving long noncoding RNA causes limb malformations.\" \/>\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-february-en1\/\" \/>\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 - February: EN1 - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"EN1 dysregulation by remarkable genetic mechanism involving long noncoding RNA causes limb malformations.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-february-en1\/\" \/>\n<meta property=\"og:site_name\" content=\"Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"article:published_time\" content=\"2021-03-02T13:06:52+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-february-en1\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-february-en1\/\"},\"author\":{\"name\":\"KB\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/2273960540ea0d585310d12c8277e5cb\"},\"headline\":\"Gene of the Month &#8211; 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