{"id":14997,"date":"2026-03-03T08:48:38","date_gmt":"2026-03-03T07:48:38","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=14997"},"modified":"2026-03-03T08:48:38","modified_gmt":"2026-03-03T07:48:38","slug":"gene-of-the-month-february-chd3","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-february-chd3\/","title":{"rendered":"Gene of the Month \u2013 February: CHD3"},"content":{"rendered":"<p>Researchers used genome editing in a mouse model to correct <em>CHD3<\/em> gene variants that, in humans, cause a rare neurodevelopmental disorder, and were able to alleviate disease-related symptoms. The authors of a study published in <em>Nature<\/em> applied a base-editing strategy, a highly precise genetic tool that can swap a single faulty DNA base for the correct one without cutting the DNA strand.<\/p>\n<p>The protein encoded by <em>CHD3<\/em> is a chromatin remodeler and thus plays a key role in regulating gene expression. During brain development and in mature neurons, CHD3 controls genes involved in axon guidance, synapse formation and neuronal maturation.<\/p>\n<p>In humans, variants in <em>CHD3<\/em> underlie the rare Snijders\u2013Blok\u2013Campeau syndrome, which is associated with developmental delay, intellectual disability, autism-like behavioural features and motor impairments. In the study, the researchers first generated a \u201chumanized\u201d mouse model carrying a common dominant missense mutation (p.R1025W) in <em>CHD3<\/em>. These mice had reduced levels and impaired function of the CHD3 protein and they showed key features of the disorder, including altered social communication, cognitive deficits and motor abnormalities.<\/p>\n<p>The team then delivered their specially engineered base editor (TeABE) into the mouse brain using two adeno-associated viral vectors and subsequently observed efficient correction of the mutation across several brain regions, with only minimal unwanted changes at the neighbouring bases. Following this correction, CHD3 protein levels increased and the animals\u2019 behavioural abnormalities improved markedly \u2013 despite the fact that treatment was administered to the postnatal, developed brain. The work thus provides important evidence that highly targeted single-base correction in the postnatal brain modified the cause of a monogenic neurodevelopmental disorder.<\/p>\n[vc_column_text]Yang K, Li WK, Geng YX, \u2026 Qiu Z. In vivo base editing of Chd3 rescues behavioural abnormalities in mice. <em>Nature<\/em>. 2026 Feb 18. doi: 10.1038\/s41586-026-10113-6. 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\/41708849&#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<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Researchers used genome editing in a mouse model to correct CHD3 gene variants that, in humans, cause a rare neurodevelopmental disorder, and were able to alleviate disease-related symptoms. The authors of a study published in Nature applied a base-editing strategy, a highly precise genetic tool that can swap a single faulty DNA base for the [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[54],"tags":[],"class_list":["post-14997","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 \u2013 February: CHD3 - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"description\" content=\"Researchers used genome editing in a mouse model to correct CHD3 gene variants that, in humans, cause a rare neurodevelopmental 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-february-chd3\/\" \/>\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 \u2013 February: CHD3 - 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