Journal article
Compromised genomic integrity impedes muscle growth after Atrx inactivation
Abstract
ATR-X syndrome is a severe intellectual disability disorder caused by mutations in the ATRX gene. Many ancillary clinical features are attributed to CNS deficiencies, yet most patients have muscle hypotonia, delayed ambulation, or kyphosis, pointing to an underlying skeletal muscle defect. Here, we identified a cell-intrinsic requirement for Atrx in postnatal muscle growth and regeneration in mice. Mice with skeletal muscle-specific Atrx …
Authors
Huh MS; O’Dea TP; Ouazia D; McKay BC; Parise G; Parks RJ; Rudnicki MA; Picketts DJ
Journal
Journal of Clinical Investigation, Vol. 122, No. 12, pp. 4412–4423
Publisher
American Society for Clinical Investigation
Publication Date
December 3, 2012
DOI
10.1172/jci63765
ISSN
0021-9738
Associated Experts
Fields of Research (FoR)
Medical Subject Headings (MeSH)
AnimalsAtaxia Telangiectasia Mutated ProteinsCell Cycle ProteinsCell DifferentiationCell ProliferationCells, CulturedChromatinDNA DamageDNA HelicasesDNA ReplicationDNA-Binding ProteinsFemaleGenomic InstabilityHistonesHumansMaleX-Linked Intellectual DisabilityMiceMice, Inbred C57BLMice, TransgenicMitosisMuscle DevelopmentMuscle, SkeletalNuclear ProteinsPrimary Cell CultureProtein Serine-Threonine KinasesRad51 RecombinaseRegenerationS Phase Cell Cycle CheckpointsSatellite Cells, Skeletal MuscleTelomereTumor Suppressor Protein p53Tumor Suppressor ProteinsX-linked Nuclear Proteinalpha-Thalassemia