Pearls in the junk: dissecting the molecular pathogenesis of facioscapulohumeral muscular dystrophy.
Despite the discovery of the deletion on the long arm of the chromosome 4 specific for facioscapulohumeral muscular dystrophy (FSHD), the identity of the gene responsible for the disease still remains a mystery. In this review we focus on two genes, DUX4 and DUX4c, encoded by the D4Z4 repeats present in the 4q35 locus, which is affected in the disease.
Dmitriev
Petr
P
Université Paris-Sud 11 CNRS UMR 8126, Interactions moléculaires et cancer, Institut de Cancérologie Gustave-Roussy, F-94805 Villejuif cedex, France.
Lipinski
Marc
M
Vassetzky
Yegor S
YS
D000818:Animals; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D021901:DNA, Intergenic / Q000235:genetics*; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D020033:Protein Isoforms / Q000235:genetics; D011544:Pseudogenes / Q000235:genetics*
D021901:DNA, Intergenic; C121257:DUX4L1 protein, human; D018398:Homeodomain Proteins; D020033:Protein Isoforms