Reconstructing Myotonic Dystrophy
- 3 August 2001
- journal article
- editorial
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 293 (5531) , 816-817
- https://doi.org/10.1126/science.1063517
Abstract
The genetic mutation in myotonic dystrophy type I (DM1) was identified almost 10 years ago. But how this mutation, an expanded CTG repeat in the DMPK gene, results in disease pathogenesis has remained unclear largely because the expanded repeat is in the non-coding part of the gene. As Tapscott and Thornton explain in their Perspective, the discovery of the DM2 mutation ( Liquori et al.)--a CCTG repeat expansion in the noncoding region of the ZNF9 gene--confirms that there is a common pathogenesis pathway in both forms of DM. It now seems that the disease pathology is attributable at least in part to effects of the repeat-containing RNA transcripts.Keywords
This publication has 21 references indexed in Scilit:
- Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9Science, 2001
- Myotonic Dystrophy in Transgenic Mice Expressing an Expanded CUG RepeatScience, 2000
- Recruitment of human muscleblind proteins to (CUG)n expansions associated with myotonic dystrophyThe EMBO Journal, 2000
- Localization of the Sites of Conduction Abnormalities in a Mouse Model of Myotonic DystrophyJournal of Cardiovascular Electrophysiology, 1999
- A Transgenic Model of Myotonic Dystrophy:Journal of Cardiovascular Electrophysiology, 1999
- Disruption of Splicing Regulated by a CUG-Binding Protein in Myotonic DystrophyScience, 1998
- A Novel, Heritable, Expanding CTG Repeat in an Intron of the SEF2-1 Gene on Chromosome 18q21.1Human Molecular Genetics, 1997
- Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP geneNature Genetics, 1997
- Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHPNature Genetics, 1997
- Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues.The Journal of cell biology, 1995