Abstract:
:The mechanism by which (CTG)n 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.
journal_name
Mol Celljournal_title
Molecular cellauthors
Tiscornia G,Mahadevan MSdoi
10.1016/s1097-2765(00)80261-0subject
Has Abstractpub_date
2000-06-01 00:00:00pages
959-67issue
6eissn
1097-2765issn
1097-4164pii
S1097-2765(00)80261-0journal_volume
5pub_type
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