{"id":11658,"date":"2020-09-03T10:28:36","date_gmt":"2020-09-03T08:28:36","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=11658"},"modified":"2020-09-03T10:28:36","modified_gmt":"2020-09-03T08:28:36","slug":"gene-of-the-month-august-ddx11","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-august-ddx11\/","title":{"rendered":"Gene of the Month &#8211; August: DDX11"},"content":{"rendered":"<p>New insights into the importance of <em>DDX11<\/em> for genomic integrity and cell vitality have been reported in a study published in <em>Nature Communications<\/em>. DDX11 is a DNA helicase and fulfils essential tasks in DNA replication and transcription, sister chromatid cohesion and DNA damage repair. Autosomal recessive mutations in <em>DDX11<\/em> are the genetic cause of the Warsaw Breakage Syndrome (WABS), a very rare disorder related to cohesinopathies. Its characteristic features include multiple malformations, intellectual disability, short stature and microcephaly.<\/p>\n<p>In the reported study, researchers investigated patients with WABS who carried multiple compound heterozygous <em>DDX11<\/em> variants and they perfomed a broad range of functional cell experiments. They showed that despite the presence of a residual protein function, these cells exhibited loss of sister chromatid cohesion and a reduced replication fork speed. DDX11-deficient cells also reacted strongly to G-quadruplex structure stabilizing compounds. G4 structures may arise when the replication fork processes through guanine-rich genomic regions. The authors propose that DDX11 unwinds G4 structures, thereby preventing DNA double strand breaks and supporting the maintenance of sister chromatid cohesion.<\/p>\n[vc_column_text] van Schie JJM, Faramarz A, Balk JA, \u2026 de Lange J. Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion. <em>Nat Commun<\/em>. 2020 Aug 27;11(1):4287. doi: 10.1038\/s41467-020-18066-8. [\/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\/32855419&#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>New insights into the importance of DDX11 for genomic integrity and cell vitality have been reported in a study published in Nature Communications. DDX11 is a DNA helicase and fulfils essential tasks in DNA replication and transcription, sister chromatid cohesion and DNA damage repair. Autosomal recessive mutations in DDX11 are the genetic cause 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-11658","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 - August: DDX11 - 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-ddx11\/\" \/>\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 - August: DDX11 - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"New insights into the importance of DDX11 for genomic integrity and cell vitality have been reported in a study published in Nature Communications. DDX11 is a DNA helicase and fulfils essential tasks in DNA replication and transcription, sister chromatid cohesion and DNA damage repair. 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