Article
Mutant DMPK 3'-UTR transcripts disrupt C2C12 myogenic differentiation by compromising MyoD.
The Journal of cell biology - 11 Nov 2002
Amack Jeffrey D, Reagan Shannon R, Mahadevan Mani S
Abstract excerpt
Myotonic dystrophy (DM) is caused by two similar noncoding repeat expansion mutations (DM1 and DM2). It is thought that both mutations produce pathogenic RNA molecules that accumulate in nuclear foci. The DM1 mutation is a CTG expansion in the 3' untranslated region (3'-UTR) of dystrophia myotonica protein kinase (DMPK). In a cell culture model, mutant transcripts containing a (CUG)200 DMPK 3'-UTR disrupt C2C12...
Topics
- 3' Untranslated Regions
- Animals
- Cell Differentiation
- Cells, Cultured
- DNA-Binding Proteins
- Gene Expression Regulation, Developmental
- Genes, Reporter
- Humans
- In Situ Hybridization, Fluorescence
- Mice
- Models, Biological
