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Article

Loss of epigenetic silencing of the DUX4 transcription factor gene in facioscapulohumeral muscular dystrophy.

Human molecular genetics - 15 Oct 2015

Hewitt Jane E

Abstract excerpt

Current genetic and molecular evidence best supports an epigenetic mechanism for facioscapulohumeral muscular dystrophy (FSHD), whereby de-repression of the D4Z4 macrosatellite array leads to aberrant expression of the DUX4 transcription factor in skeletal muscle. This de-repression is triggered by either array contraction or (more rarely) by mutation of the SMCHD1 (structural maintenance of chromosomes flexible...

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Share to Argonaute Proteins
Share to Chromosomal Proteins, Non-Histone
Share to Epigenesis, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eukaryotic Initiation Factors

Share to Homeodomain Proteins

Share to Muscular Dystrophy, Facioscapulohumeral

Share to RNA, Small Interfering

Share to Transcription, Genetic

Source

Identifiers

PMID: 26113644
DOI: 10.1093/hmg/ddv237

Genes

DUX4
SMCHD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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