{"id":8584,"date":"2017-02-03T14:29:16","date_gmt":"2017-02-03T13:29:16","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/en\/?p=8584"},"modified":"2017-02-03T14:30:47","modified_gmt":"2017-02-03T13:30:47","slug":"gene-of-the-month-january-smchd1","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-january-smchd1\/","title":{"rendered":"Gene of the Month – January: SMCHD1"},"content":{"rendered":"

SMCHD1<\/em> encodes the structural maintenance of chromosomes flexible hinge domain containing 1 protein, a member of the large SMC protein family. It is involved in epigenetic regulation of various genes and plays a role in X chromosome inactivation and DNA damage repair. It has been known that SMCHD1<\/em> mutations cause facioscapulohumeral muscle dystrophy type 2 (FSHD 2), a muscle weakness disorder that affects primarily the face and the shoulder girdle. Now a new function of the gene has been uncovered in a whole different area: the proper development of the nose.<\/p>\n

Two recent articles published in Nature Genetics<\/em> report on the identification of disease-causing de novo SMCHD1<\/em> mutations in patients presenting with arhinia, either in isolated form or, in combination with eye malformations, as part of Bosma arhinia microphthalmia syndrome. The genetic background for this very rare disorder in which the nose is either absent or developed incompletely has so far been elusive. Functional analyses performed in these recent studies also suggest that the mutations in the patients with arhinia lead to an increase in SMCHD1 protein function \u2013 in contrast to the loss-of-function mutations previously described to cause FSHD 2. With these studies, the researchers provide an example of how – depending on their type and functional effect – mutations in the same gene may bring about diverse disorders involving entirely different tissues and organs. Furthermore, these new findings may be useful in the development of novel approaches for the treatment of FSHD. [vc_column_text]Gordon CT, Xue S, Yigit G, Filali H, Chen K, \u2026 Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B. De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. Nat Genet.<\/em> 2017 Feb;49(2):249-255. doi: 10.1038\/ng.3765. Epub 2017 Jan 9.[\/vc_column_text][mk_button dimension=”flat” size=”medium” icon=”mk-icon-long-arrow-right” icon_anim=”side” url=”https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28067911″ target=”_blank” bg_color=”#006699″ btn_hover_bg=”#000000″ btn_hover_txt_color=”#ffffff”]Article in PubMed[\/mk_button][mk_padding_divider size=”30″][vc_column_text]Shaw ND, Brand H, \u2026 Talkowski ME. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet.<\/em> 2017 Feb;49(2):238-248. doi: 10.1038\/ng.3743. Epub 2017 Jan 9.[\/vc_column_text][mk_button dimension=”flat” size=”medium” icon=”mk-icon-long-arrow-right” icon_anim=”side” url=”https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28067909″ target=”_blank” bg_color=”#006699″ btn_hover_bg=”#000000″ btn_hover_txt_color=”#ffffff”]Article in PubMed[\/mk_button][mk_padding_divider size=”30″][vc_column_text]Discussion of the articles in Nature Genetics – <\/em>News and views:<\/p>\n

Wilkie AO. Many faces of SMCHD1. Nat Genet<\/em>. 2017 Jan 31;49(2):176-178. doi: 10.1038\/ng.3776.[\/vc_column_text][mk_button dimension=”flat” size=”medium” icon=”mk-icon-long-arrow-right” icon_anim=”side” url=”https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28138148″ target=”_blank” bg_color=”#006699″ btn_hover_bg=”#000000″ btn_hover_txt_color=”#ffffff”]Article in PubMed[\/mk_button]\n","protected":false},"excerpt":{"rendered":"

SMCHD1 encodes the structural maintenance of chromosomes flexible hinge domain containing 1 protein, a member of the large SMC protein family. It is involved in epigenetic regulation of various genes and plays a role in X chromosome inactivation and DNA damage repair. It has been known that SMCHD1 mutations cause facioscapulohumeral muscle dystrophy type 2 […]<\/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-8584","post","type-post","status-publish","format-standard","hentry","category-gene-of-the-month"],"yoast_head":"\nGene of the Month - January: SMCHD1 - 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-january-smchd1\/\" \/>\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 - January: SMCHD1 - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"SMCHD1 encodes the structural maintenance of chromosomes flexible hinge domain containing 1 protein, a member of the large SMC protein family. 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