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Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy
Abstract
In myotonic dystrophy (DM), expression of RNA containing expanded CUG or CCUG repeats leads to misregulated alternative splicing of pre-mRNA. The repeat-bearing transcripts accumulate in nuclear foci, together with proteins in the muscleblind family, MBNL1 and MBNL2. In transgenic mice that express expanded CUG repeats, we show that the splicing defect selectively targets a group of exons that share a common temporal pattern of developmental regulation. These exons undergo a synchronized splicing switch between post-natal day 2 and 20 in wild-type mice. During this post-natal interval, MBNL1 protein translocates from a predominantly cytoplasmic to nuclear distribution. In the absence of MBNL1, these physiological splicing transitions do not occur. The splicing defect induced by expanded CUG repeats in mature muscle fibers is closely reproduced by deficiency of MBNL1 but not by deficiency of MBNL2. A parallel situation exists in human DM type 1 and type 2. MBNL1 is depleted from the muscle nucleoplasm because of sequestration in nuclear foci, and the associated splicing defects are remarkably similar to those observed in MBNL1 knockout mice. These results indicate that MBNL1 participates in the post-natal remodeling of skeletal muscle by controlling a key set of developmentally regulated splicing switches. Sequestration of MBNL1, and failure to maintain these splicing transitions, has a pivotal role in the pathogenesis of muscle disease in DM.
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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 [102]
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Metadata
- Authors
- Lin, X., Miller, J. W., Mankodi, A., Kanadia, R. N., Yuan, Y., Moxley, R. T., Swanson, M. S., & Thornton, C. A.
- Affiliations
- University of Rochester Medicine (US)
- University of Florida (US)
- Corresponding author
- Thornton, Charles A.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2006-05-22
- Volume
- 15
- Issue
- 13
- Pages
- 2087-2097
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2140074138
- Semantic Scholar
- 1b600bfc756195b662624998312e8d206442a550
- Cited by
- 510
- References
- 35
- Citations by year
- 2026: 19 · 2025: 19 · 2024: 20 · 2023: 19 · 2022: 17 · 2021: 27 · 2020: 29 · 2019: 24 · 2018: 27 · 2017: 19 · 2016: 26 · 2015: 27 · 2014: 37 · 2013: 34 · 2012: 36
- FWCI
- 9.66
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (n01ar002250-007)
- National Institute of Neurological Disorders and Stroke (NS-48843)
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (AR-48143, R01AR049077, K24AR048143, R01AR046799, AR02250, R01AR046806, AR46806)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Muscle Physiology and Disorders
- Keywords
- myotonic dystrophy, MBNL1, MBNL2, CUG repeat expansion, alternative splicing, nuclear foci, skeletal muscle development, myotonic dystrophy type 1, myotonic dystrophy type 2
- MeSH terms
- Animals, Cell Nucleus, Humans, Mice, Transgenic, Molecular Sequence Data, Myotonic Dystrophy, Time Factors, Immunoblotting, RNA-Binding Proteins, Alternative Splicing, Mice, Knockout, Muscle, Skeletal, Gene Expression Regulation, Developmental, Trinucleotide Repeat Expansion, Reverse Transcriptase Polymerase Chain Reaction, Mice
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
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