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• W4382361808 abstract "Facioscapulohumeral muscular dystrophy (FSHD) is caused by the epigenetic derepression of the 4q-linked D4Z4 macrosatellite repeat resulting in inappropriate expression of the D4Z4 repeat-encoded DUX4 gene in skeletal muscle. In 5% of FSHD cases, D4Z4 chromatin relaxation is due to germline mutations in one of the chromatin modifiers SMCHD1, DNMT3B or LRIF1. The mechanism of SMCHD1- and LRIF1-mediated D4Z4 repression is not clear. We show that somatic loss-of-function of either SMCHD1 or LRIF1 does not result in D4Z4 chromatin changes and that SMCHD1 and LRIF1 form an auxiliary layer of D4Z4 repressive mechanisms. We uncover that SMCHD1, together with the long isoform of LRIF1, binds to the LRIF1 promoter and silences LRIF1 expression. The interdependency of SMCHD1 and LRIF1 binding differs between D4Z4 and the LRIF1 promoter, and both loci show different transcriptional responses to either early developmentally or somatically perturbed chromatin function of SMCHD1 and LRIF1." @default.
• W4382361808 created "2023-06-29" @default.
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• W4382361808 creator A5072928871 @default.
• W4382361808 date "2023-06-28" @default.
• W4382361808 modified "2023-10-15" @default.
• W4382361808 title "SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action" @default.
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• W4382361808 doi "https://doi.org/10.1038/s42003-023-05053-0" @default.
• W4382361808 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37380887" @default.
• W4382361808 hasPublicationYear "2023" @default.
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