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Article

Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene

28 Oct 2010

Abstract excerpt

Each unit of the D4Z4 macrosatellite repeat contains a retrotransposed gene encoding the DUX4 double-homeobox transcription factor. Facioscapulohumeral dystrophy (FSHD) is caused by deletion of a subset of the D4Z4 units in the subtelomeric region of chromosome 4. Although it has been reported that the deletion of D4Z4 units induces the pathological expression of DUX4 mRNA, the association of DUX4 mRNA expression...

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PMID: 21060811
DOI: 10.1371/journal.pgen.1001181

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