Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy.

By A. Mankodi, M. Takahashi, Hong Jiang, Carol L. Beck, W. Bowers, R. Moxley, S. Cannon, C. Thornton. Molecules and Cells, 2002

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Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. (2002, background): “…Dynamics, Piscata-7a is also an embryonic splicing pattern in wild-type way, NJ).mice (the mouse gene does not contain an exon homolo- gous to 6b) (Mankodi et al., 2002), suggesting that incluRNA Extraction and RT-PCRsion of exon 7a in HSALR mice and exons 6b and 7a in Total cellular RNA was…”
Pre-mRNA splicing and human disease. (2003, background): “Recent results from individuals with DM1 and HSA mice demonstrate that aberrantly regulated splicing of ClC-1 pre-mRNAs introduces PTCs resulting in NMD of the ClC-1 mRNA and ultimately loss of ClC-1 function (Charlet et al. 2002b; Mankodi et al. 2002).”
Microsatellites within genes: structure, function, and evolution. (2004, background): “(CUG) n -containing mRNAs have been reported to accumulate in the nuclei of DM cultured myoblasts (Davis et al. 1997) and in the nuclei of muscle cells of transgenic mice expressing untranslated CUG repeats (Mankodi et al. 2002).”