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

ABSTRACT: Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene leading to the presence of premature termination codons (PTC). Previous transcriptional studies have shown reduced DMD transcript levels in DMD patient and animal model muscles when PTC are present. Nonsense-mediated decay (NMD) has been suggested to be responsible for the observed reduction, but there is no experimental evidence supporting this claim. In this study, we aimed to investigate the mechanism responsible for the drop in DMD expression levels in the presence of PTC. We observed that the inhibition of NMD does not normalize DMD gene expression in DMD. Additionally, in situ hybridization showed that DMD messenger RNA primarily localizes in the nuclear compartment, confirming that a cytopl

SUBMITTER: Garcia-Rodriguez R 

PROVIDER: S-EPMC7368324 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature