Journal article

Relating SMCHD1 structure to its function in epigenetic silencing

Alexandra D Gurzau, Marnie E Blewitt, Peter E Czabotar, James M Murphy, Richard W Birkinshaw

Biochemical Society Transactions | PORTLAND PRESS LTD | Published : 2020

Abstract

The structural maintenance of chromosomes hinge domain containing protein 1 (SMCHD1) is a large multidomain protein involved in epigenetic gene silencing. Variations in the SMCHD1 gene are associated with two debilitating human disorders, facioscapulohumeral muscular dystrophy (FSHD) and Bosma arhinia microphthalmia syndrome (BAMS). Failure of SMCHD1 to silence the D4Z4 macro-repeat array causes FSHD, yet the consequences on gene silencing of SMCHD1 variations associated with BAMS are currently unknown. Despite the interest due to these roles, our understanding of the SMCHD1 protein is in its infancy. Most knowledge of SMCHD1 function is based on its similarity to the structural maintenance ..

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Grants

Awarded by Australian National Health and Medical Research Council


Awarded by Victorian State Government Operational Infrastructure Support, Australian National Health and Medical Research Council IRIISS grant


Funding Acknowledgements

The authors were supported by an Australian Research Training Program scholarship (A.D.G), the BellberryViertel Senior Medical Research Fellowship (M.E.B), Australian National Health and Medical Research Council fellowships (P.E.C., 1079700; J.M.M, 1105754, 1172929) and grant (to P.E.C., M.E.B. and J.M.M; 1098290). Additional support was provided by the Victorian State Government Operational Infrastructure Support, Australian National Health and Medical Research Council IRIISS grant (9000433).