Journal article
The Epigenetic Regulator SMCHD1 in Development and Disease
N Jansz, K Chen, JM Murphy, ME Blewitt
Trends in Genetics | ELSEVIER SCIENCE LONDON | Published : 2017
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.
Grants
Awarded by National Health and Medical Research Council of Australia (NHMRC)
Awarded by NHMRC
Awarded by NHMRC IRIISS
Awarded by National Health and Medical Research Council of Australia
Funding Acknowledgements
N.J. was supported by an Australian Postgraduate Award from the University of Melbourne. K.C. was supported by a Cancer Council Victoria Postdoctoral Fellowship. J.M.M. and M.E.B. were supported by National Health and Medical Research Council of Australia (NHMRC) R.D. Wright Fellowships (APP1105754 and APP1110206 respectively). The studies from laboratories of the authors reviewed herein were enabled by NHMRC Project grants 1045936 and 1098290, with additional support from NHMRC IRIISS 9000220 and Victoria Government Operational Infrastructure Support. We thank colleagues for valuable discussions and apologise to those whose studies we were unable to discuss here owing to space limitations.