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- Title
The FSHD atrophic myotube phenotype is caused by DUX4 expression.
- Authors
Vanderplanck, Céline; Ansseau, Eugénie; Charron, Sébastien; Stricwant, Nadia; Tassin, Alexandra; Laoudj-Chenivesse, Dalila; Wilton, Steve D; Coppée, Frédérique; Belayew, Alexandra
- Abstract
Facioscapulohumeral muscular dystrophy (FSHD) is linked to deletions in 4q35 within the D4Z4 repeat array in which we identified the double homeobox 4 (DUX4) gene. We found stable DUX4 mRNAs only derived from the most distal D4Z4 unit and unexpectedly extended to the flanking pLAM region that provided an intron and a polyadenylation signal. DUX4 encodes a transcription factor expressed in FSHD but not control primary myoblasts or muscle biopsies. The DUX4 protein initiates a large transcription deregulation cascade leading to muscle atrophy and oxidative stress, which are FSHD key features.
- Publication
PloS one, 2011, Vol 6, Issue 10, pe26820
- ISSN
1932-6203
- Publication type
Journal Article
- DOI
10.1371/journal.pone.0026820