| First Author | Kanadia RN | Year | 2003 |
| Journal | Science | Volume | 302 |
| Issue | 5652 | Pages | 1978-80 |
| PubMed ID | 14671308 | Mgi Jnum | J:86903 |
| Mgi Id | MGI:2682447 | Doi | 10.1126/science.1088583 |
| Citation | Kanadia RN, et al. (2003) A muscleblind knockout model for myotonic dystrophy. Science 302(5652):1978-80 |
| abstractText | 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 RNA splicing abnormalities that are characteristic of DM disease. Our results support the hypothesis that manifestations of DM can result from sequestration of specific RNA binding proteins by a repetitive element expansion in a mutant RNA. |
