Journal
MOLECULAR CELL
Volume 5, Issue 6, Pages 959-967Publisher
CELL PRESS
DOI: 10.1016/S1097-2765(00)80261-0
Keywords
-
Categories
Funding
- NIAMS NIH HHS [R01 AR045992] Funding Source: Medline
Ask authors/readers for more resources
The mechanism by which (CTG), expansion in the 3' UTR of the DMPK gene causes myotonic dystrophy (DM) is unknown. We identified four RNA splicing factors-hnRNP C, U2AF (U2 auxiliary factor), PTB (polypyrimidine tract binding protein), and PSF (PTB associated splicing factor)-that bind to two short regions 3' of the (CUG)(n), and found a novel 3' DMPK exon resulting in an mRNA lacking the repeats. We propose that the (CUG)(n) is an essential cis acting element for this splicing event. In contrast to (CUG)(n) containing mRNAs, the novel isoform is not retained in the nucleus in DM cells, resulting in imbalances in relative levels of cytoplasmic DMPK mRNA isoforms and a new dominant effect of the mutation on DMPK.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available