The Walter and Eliza Hall Institute of Medical Research, Melbourne VIC, Australia; The Department of Medical Biology, The University of Melbourne, Melbourne VIC, Australia.
The Walter and Eliza Hall Institute of Medical Research, Melbourne VIC, Australia; The Department of Medical Biology, The University of Melbourne, Melbourne VIC, Australia.
Trends Genet. 2017 Apr;33(4):233-243. doi: 10.1016/j.tig.2017.01.007. Epub 2017 Feb 20.
It has very recently become clear that the epigenetic modifier SMCHD1 has a role in two distinct disorders: facioscapulohumoral muscular dystrophy (FSHD) and Bosma arhinia and micropthalmia (BAMS). In the former there are heterozygous loss-of-function mutations, while both gain- and loss-of-function mutations have been proposed to underlie the latter. These findings have led to much interest in SMCHD1 and how it works at the molecular level. We summarise here current understanding of the mechanism of action of SMCHD1, its role in these diseases, and what has been learnt from study of mouse models null for Smchd1 in the decade since the discovery of SMCHD1.
最近已经明确，表观遗传修饰因子 SMCHD1 在两种不同的疾病中有作用：面肩肱型肌营养不良症（FSHD）和 Bosma 无虹膜和小眼症（BAMS）。前者存在杂合性功能丧失突变，而后者则提出了获得性功能和丧失性功能突变的可能性。这些发现引起了人们对 SMCHD1 及其在分子水平上的作用的极大兴趣。我们在这里总结了对 SMCHD1 作用机制的当前理解，它在这些疾病中的作用，以及自 SMCHD1 发现以来的十年中，通过研究 Smchd1 缺失的小鼠模型所学到的知识。
