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Article

Intrinsic Epigenetic Regulation of the D4Z4 Macrosatellite Repeat in a Transgenic Mouse Model for FSHD

4 Apr 2013

Abstract excerpt

Facioscapulohumeral dystrophy (FSHD) is a progressive muscular dystrophy caused by decreased epigenetic repression of the D4Z4 macrosatellite repeats and ectopic expression of DUX4, a retrogene encoding a germline transcription factor encoded in each repeat. Unaffected individuals generally have more than 10 repeats arrayed in the subtelomeric region of chromosome 4, whereas the most common form of FSHD (FSHD1)...

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PMID: 23593020
DOI: 10.1371/journal.pgen.1003415

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Related research

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Research trail→

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Intrinsic Epigenetic Regulation of the D4Z4 Macrosatellite Repeat in a Transgenic Mouse Model for FSHDPMID 23593020Read ↗

A discrete region of the D4Z4 is sufficient to initiate epigenetic silencingSemantic proximity Read ↗

Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy.Semantic proximity Read ↗

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Genetic and epigenetic contributors to FSHD.Semantic proximity Read ↗

Dominant lethal pathologies in male mice engineered to contain an X-linked DUX4 transgene.Semantic proximity Read ↗

Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.Semantic proximity Read ↗

Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophySemantic proximity Read ↗

Loss of epigenetic silencing of the DUX4 transcription factor gene in facioscapulohumeral muscular dystrophy.Semantic proximity Read ↗

Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed GeneSemantic proximity Read ↗

Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions.Semantic proximity Read ↗

Transgenic mouse models for investigating human <i>DUX4</i> expression during development and its roles in FSHD pathophysiologySemantic proximity Read ↗

Facioscapulohumeral Muscular DystrophySemantic proximity Read ↗

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