Article
SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes.
Skeletal muscle - 6 Jun 2017
Mason Amanda G, Slieker Roderick C, Balog Judit, Lemmers Richard J L F, Wong Chao-Jen, Yao Zizhen, Lim Jong-Won, Filippova Galina N, Ne Enrico, Tawil Rabi, Heijmans Bas T, Tapscott Stephen J, van der Maarel Silvère M
Abstract excerpt
BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is in most cases caused by a contraction of the D4Z4 macrosatellite repeat on chromosome 4 (FSHD1) or by mutations in the SMCHD1 or DNMT3B gene (FSHD2). Both situations result in the incomplete epigenetic repression of the D4Z4-encoded retrogene DUX4 in somatic cells, leading to the aberrant expression of DUX4 in the skeletal muscle. In mice, Smchd1...
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