| Title |
The FSHD Atrophic Myotube Phenotype Is Caused by DUX4 Expression
|
|---|---|
| Published in |
PLOS ONE, October 2011
|
| DOI | 10.1371/journal.pone.0026820 |
| Pubmed ID | |
| Authors |
Céline Vanderplanck, Eugénie Ansseau, Sébastien Charron, Nadia Stricwant, Alexandra Tassin, Dalila Laoudj-Chenivesse, Steve D. Wilton, Frédérique Coppée, Alexandra Belayew |
| 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. |
Mendeley readers
The data shown below were compiled from readership statistics for 130 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Russia | 1 | <1% |
| Australia | 1 | <1% |
| Unknown | 128 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 37 | 28% |
| Student > Ph. D. Student | 23 | 18% |
| Student > Bachelor | 17 | 13% |
| Student > Master | 11 | 8% |
| Professor | 7 | 5% |
| Other | 12 | 9% |
| Unknown | 23 | 18% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 39 | 30% |
| Agricultural and Biological Sciences | 34 | 26% |
| Medicine and Dentistry | 17 | 13% |
| Chemistry | 4 | 3% |
| Neuroscience | 4 | 3% |
| Other | 7 | 5% |
| Unknown | 25 | 19% |