Ontology highlight
ABSTRACT:
SUBMITTER: Yao Z
PROVIDER: S-EPMC4168822 | biostudies-literature | 2014 Oct
REPOSITORIES: biostudies-literature
Yao Zizhen Z Snider Lauren L Balog Judit J Lemmers Richard J L F RJ Van Der Maarel Silvère M SM Tawil Rabi R Tapscott Stephen J SJ
Human molecular genetics 20140526 20
Facioscapulohumeral dystrophy (FSHD) is caused by decreased epigenetic repression of the D4Z4 macrosatellite array and recent studies have shown that this results in the expression of low levels of the DUX4 mRNA in skeletal muscle. Several other mechanisms have been suggested for FSHD pathophysiology and it remains unknown whether DUX4 expression can account for most of the molecular changes seen in FSHD. Since DUX4 is a transcription factor, we used RNA-seq to measure gene expression in muscle ...[more]