A Muscleblind Knockout Model for Myotonic Dystrophy
Top Cited Papers
- 12 December 2003
- journal article
- other
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 302 (5652) , 1978-1980
- https://doi.org/10.1126/science.1088583
Abstract
The neuromuscular disease myotonic dystrophy (DM) is caused by microsatellite repeat expansions at two different genomic loci. Mutant DM transcripts are retained in the nucleus together with the muscleblind (Mbnl) proteins, and these abnormal RNAs somehow interfere with pre-mRNA splicing regulation. Here, we show that disruption of the mouse Mbnl1 gene leads to muscle, eye, and RNAsplicing abnormalities that are characteristic of DM disease. Our results support the hypothesis that manifestations of DM can result from sequestration of specific RNAbinding proteins by a repetitive element expansion in a mutant RNA.Keywords
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