The epigenetic regulator SMCHD1 in development and disease
- Author(s)
- Jansz, N; Chen, K; Murphy, JM; Blewitt, ME;
- Details
- Publication Year 2017-02-17,Volume 33,Issue #4,Page 233-243
- Journal Title
- Trends in Genetics
- Publication Type
- Journal Article
- Abstract
- 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.
- Publisher
- Cell Press
- Research Division(s)
- Molecular Medicine; Cell Signalling And Cell Death
- PubMed ID
- 28222895
- Publisher's Version
- https://doi.org/10.1016/j.tig.2017.01.007
- NHMRC Grants
- NHMRC/1105754, NHMRC/1110206, NHMRC/1045936, NHMRC/1098290,
- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2017-04-06 09:27:39
Last Modified: 2018-07-04 03:30:02