Article
The FSHD atrophic myotube phenotype is caused by DUX4 expression.
PloS one - 1 Jan 2011
Vanderplanck Céline, Ansseau Eugénie, Charron Sébastien, Stricwant Nadia, Tassin Alexandra, Laoudj-Chenivesse Dalila, Wilton Steve D, Coppée Frédérique, Belayew Alexandra
Abstract excerpt
BACKGROUND: 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...
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