Dysfunctional transcripts are formed by alternative polyadenylation in OPMD.

ABSTRACT: Post-transcription mRNA processing in the 3'-untranslated region (UTR) of transcripts alters mRNA landscape. Alternative polyadenylation (APA) utilization in the 3'-UTR often leads to shorter 3'-UTR affecting mRNA stability, a process that is regulated by PABPN1. In skeletal muscles PABPN1 levels reduce with age and a greater decrease in found in Oculopharyngeal muscular dystrophy (OPMD). OPMD is a late onset autosomal dominant myopathy caused by expansion mutation in PABPN1. In OPMD models a shift from distal to proximal polyadenylation site utilization in the 3'-UTR, and PABPN1 was shown to play a prominent role in APA. Whether PABPN1-mediated APA transcripts are functional is not fully understood. We investigate nuclear export and translation efficiency of transcripts in OPMD models. We

SUBMITTER: Raz V 

PROVIDER: S-EPMC5650278 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature