p53-independent DUX4 pathology in cell and animal models of facioscapulohumeral muscular dystrophy

• Published in: Disease models & mechanisms Vol. 10; no. 10; pp. 1211 - 1216
• Main Authors: Bosnakovski, Darko, Gearhart, Micah D, Toso, Erik A, Recht, Olivia O, Cucak, Anja, Jain, Abhinav K, Barton, Michelle C, Kyba, Michael
• Format: Journal Article
• Language: English
• Published: England The Company of Biologists Ltd 01.10.2017; The Company of Biologists
• Subjects: Animals; Apoptosis; Cell Death; Cell Line; Cyclin-Dependent Kinase Inhibitor p21 - genetics; Cyclin-Dependent Kinase Inhibitor p21 - metabolism; Databases, Genetic; Disease Models, Animal; DNA damage; DUX4; Experiments; Facioscapulohumeral muscular dystrophy; Gene Expression Regulation; Genes; Genetic Predisposition to Disease; Homeodomain Proteins - genetics; Homeodomain Proteins - metabolism; Humans; Males; Mice, Knockout; Muscle, Skeletal - metabolism; Muscle, Skeletal - pathology; Muscular dystrophy; Muscular Dystrophy, Facioscapulohumeral - genetics; Muscular Dystrophy, Facioscapulohumeral - metabolism; Muscular Dystrophy, Facioscapulohumeral - pathology; Mutation; Myoblasts, Skeletal - metabolism; Myoblasts, Skeletal - pathology; Myopathy; p53; Pathology; Phenotype; Proteins; Signal Transduction; Tumor Suppressor Protein p53 - deficiency; Tumor Suppressor Protein p53 - genetics; Tumor Suppressor Protein p53 - metabolism; Facioscapulohumeral muscular dystrophy; DUX4; Myopathy; p53

Facioscapulohumeral muscular dystrophy (FSHD) is a genetically dominant myopathy caused by mutations that disrupt repression of the normally silent gene, which encodes a transcription factor that has been shown to interfere with myogenesis when misexpressed at very low levels in myoblasts and to cau...