SMCHD1 AND LRIF1 CONVERGE AT THE FSHD-ASSOCIATED D4Z4 REPEAT AND LRIF1 PROMOTER YET DISPLAY DIFFERENT MODES OF ACTION

SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action

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 ngetikin cases, D4Z4 chromatin relaxation is due to germline mutations in one of the chromatin modifie

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