Repetitive sequences account for more than 50% of the human genome. Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal-dominant disease associated with reduction in the copy number of the D4Z4 repeat mapping to 4q35. By an unknown mechanism, D4Z4 deletion causes an epigenetic switch leading to de-repression of 4q35 genes. Here we show that the… (More)
Facioscapulohumeral muscular dystrophy (FSHD) is a common muscle disease whose molecular pathogenesis remains largely unknown. Over-expression of FSHD region gene 1 (FRG1) in mice, frogs, and worms perturbs muscle development and causes FSHD-like phenotypes. FRG1 has been implicated in splicing, and we asked how splicing might be involved in FSHD by… (More)
Publications found online in 2002. A microarray-based, integrated approach to identify novel regulators of cancer drug response and apoptosis. efficient strategy for large-scale high-throughput transposon-mediated sequencing of cDNA clones. Interaction between two E3 ubiquitin ligases of different classes, CBLC and AIP4/ITCH.