Journal
MOLECULAR CELL
Volume 10, Issue 1, Pages 45-53Publisher
CELL PRESS
DOI: 10.1016/S1097-2765(02)00572-5
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Funding
- NIAMS NIH HHS [R01AR45653] Funding Source: Medline
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Myotonic dystrophy type 1 (DM1) is a dominant multi-systemic disorder caused by a CTG expansion in the 3' untranslated region of the DMPK gene. A predominant characteristic of DM1 is myotonia resulting from skeletal muscle membrane hyperexcitability. Here we demonstrate loss of the muscle-specific chloride channel (CIC-1) mRNA and protein in DM1 skeletal muscle tissue due to aberrant splicing of the CIC-1 pre-mRNA. The splicing regulator, CUG binding protein (CUG-BP), which is elevated in DM1 striated muscle, binds to the CIC-1 pre-mRNA, and overexpression of CUG-BP in normal cells reproduces the aberrant pattern of CIC-1 splicing observed in DM1 skeletal muscle. We propose that disruption of alternative splicing regulation causes a predominant pathological feature of DM1.
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