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Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy
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The common form of myotonic dystrophy (DM1) is associated with the expression of expanded CTG DNA repeats as RNA (CUG(exp) RNA). To test whether CUG(exp) RNA creates a global splicing defect, we compared the skeletal muscle of two mouse models of DM1, one expressing a CTG(exp) transgene and another homozygous for a defective muscleblind 1 (Mbnl1) gene. Strong correlation in splicing changes for approximately 100 new Mbnl1-regulated exons indicates that loss of Mbnl1 explains >80% of the splicing pathology due to CUG(exp) RNA. In contrast, only about half of mRNA-level changes can be attributed to loss of Mbnl1, indicating that CUG(exp) RNA has Mbnl1-independent effects, particularly on mRNAs for extracellular matrix proteins. We propose that CUG(exp) RNA causes two separate effects: loss of Mbnl1 function (disrupting splicing) and loss of another function that disrupts extracellular matrix mRNA regulation, possibly mediated by Mbnl2. These findings reveal unanticipated similarities between DM1 and other muscular dystrophies.
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“In myotonic dystrophy, CTG or CCTG repeat expansions in expressed RNAs sequester MBNL proteins from their normal binding sites, altering MBNL-dependent splicing patterns101–105.”
From The neurogenetics of alternative splicing (2016) · cites this paper as [103]
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Self-citation
Metadata
- Authors
- Du, H., Cline, M. S., Osborne, R. J., Tuttle, D. L., Clark, T. A., Donohue, J. P., Hall, M. P., Shiue, L., Swanson, M. S., Thornton, C. A., & Ares, M.
- Affiliations
- University of California, Santa Cruz (US)
- University of Rochester Medicine (US)
- University of Florida (US)
- Affymetrix (United States) (US)
- Corresponding author
- Ares, Manuel
- ORCID
- Venue
- Nature Structural & Molecular Biology
- Published
- 2010-01-24
- Volume
- 17
- Issue
- 2
- Pages
- 187-193
- ISSN
- 1545-9985 (ISSN-L)
- 1545-9993
- PMC
- PMC2852634
- OpenAlex
- W2110459103
- Cited by
- 332
- References
- 65
- Citations by year
- 2026: 11 · 2025: 13 · 2024: 13 · 2023: 9 · 2022: 17 · 2021: 17 · 2020: 10 · 2019: 17 · 2018: 30 · 2017: 17 · 2016: 17 · 2015: 14 · 2014: 34 · 2013: 36 · 2012: 32
- FWCI
- 14.59
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Structural & Molecular Biology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health (5u54ns048843-12)
- National Institute of General Medical Sciences (R01GM084317, GM040478, R01GM040478, GM084317)
- National Institute of Neurological Disorders and Stroke (U54‐NS048843)
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (R01AR049077, AR046799, K24AR048143, R01AR046799, R01AR046806, AR046806)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Muscle Physiology and Disorders
- Keywords
- myotonic dystrophy type 1, CUG repeat expansion, MBNL1, MBNL2, alternative splicing, extracellular matrix gene expression, RNA-binding proteins, skeletal muscle, gene expression profiling, muscular dystrophy, mouse model
- MeSH terms
- Animals, Disease Models, Animal, DNA-Binding Proteins, Models, Biological, Myotonic Dystrophy, Repetitive Sequences, Nucleic Acid, RNA, Messenger, Gene Expression, Extracellular Matrix Proteins, RNA-Binding Proteins, Alternative Splicing, Mice
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