The FSHD atrophic myotube phenotype is caused by DUX4 expression.

ABSTRACT:

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 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.

Methodology/principal findings

We now show that transfection of myoblasts with a DUX4 expression vector leads to atrophic myotube formation associated with the induction of E3

SUBMITTER: Vanderplanck C 

PROVIDER: S-EPMC3203905 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature