Premature termination codons in the DMD gene cause reduced local mRNA synthesis

Abstract excerpt

Significance Duchenne muscular dystrophy is a rare disease caused by lack of dystrophin due to mutations in the DMD gene. The presence of mutations leads to a reduction of the transcript levels. In this study, we show that the transcript reduction is not caused by the cytoplasmic nonsense-mediated decay mechanism as previously thought. We demonstrate that dystrophin mRNA is primarily localized in the nuclear...