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Myotonic Dystrophy in Transgenic Mice Expressing an Expanded CUG Repeat
Abstract
Myotonic dystrophy (DM), the most common form of muscular dystrophy in adult humans, results from expansion of a CTG repeat in the 3′ untranslated region of the DMPK gene. The mutant DMPK messenger RNA (mRNA) contains an expanded CUG repeat and is retained in the nucleus. We have expressed an untranslated CUG repeat in an unrelated mRNA in transgenic mice. Mice that expressed expanded CUG repeats developed myotonia and myopathy, whereas mice expressing a nonexpanded repeat did not. Thus, transcripts with expanded CUG repeats are sufficient to generate a DM phenotype. This result supports a role for RNA gain of function in disease pathogenesis.
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Citations
Cited by
Pre-mRNA splicing and human disease
Faustino, N. A., & Cooper, T. A. (2003) · Genes & Development · doi:10.1101/gad.1048803 · Cited by 1,256
Recruitment of human muscleblind proteins to (CUG)n expansions associated with myotonic dystrophy
Miller, J. W. (2000) · The EMBO Journal · doi:10.1093/emboj/19.17.4439 · Cited by 937
Expandable DNA repeats and human disease
Mirkin, S. M. (2007) · Nature · doi:10.1038/nature05977 · Cited by 934
RNA phase transitions in repeat expansion disorders
(2017) · doi:10.1038/nature22386 · Cited by 911
A Muscleblind Knockout Model for Myotonic Dystrophy
Kanadia, R. N., Johnstone, K. A., Mankodi, A., Lungu, C., Thornton, C. A., Esson, D., Timmers, A. M., Hauswirth, W. W., & Swanson, M. S. (2003) · Science · doi:10.1126/science.1088583 · Cited by 743
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Metadata
- Authors
- Mankodi, A., Logigian, E., Callahan, L., McClain, C., White, R., Henderson, D., Krym, M., & Thornton, C. A.
- Venue
- Science
- Published
- 2000-09-08
- Volume
- 289
- Issue
- 5485
- Pages
- 1769-1772
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2081748748
- Cited by
- 737
- References
- 0
- FWCI
- 10.67
- Type
- journal article
- Language
- en
- Open access
- closed
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- Mankodi, A., Logigian, E., Callahan, L., McClain, C., White, R., Henderson, D., Krym, M., & Thornton, C. A. (2000). Myotonic Dystrophy in Transgenic Mice Expressing an Expanded CUG Repeat. Science. https://doi.org/10.1126/science.289.5485.1769
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