Loss of MBNL Leads to Disruption of Developmentally Regulated Alternative Polyadenylation in RNA-Mediated Disease
Open accessAbstract
Inhibition of muscleblind-like (MBNL) activity due to sequestration by microsatellite expansion RNAs is a major pathogenic event in the RNA-mediated disease myotonic dystrophy (DM). Although MBNL1 and MBNL2 bind to nascent transcripts to regulate alternative splicing during muscle and brain development, another major binding site for the MBNL protein family is the 3' untranslated region of target RNAs. Here, we report that depletion of Mbnl proteins in mouse embryo fibroblasts leads to misregulation of thousands of alternative polyadenylation events. HITS-CLIP and minigene reporter analyses indicate that these polyadenylation switches are a direct consequence of MBNL binding to target RNAs. Misregulated alternative polyadenylation also occurs in skeletal muscle in a mouse polyCUG model and human DM, resulting in the persistence of neonatal polyadenylation patterns. These findings reveal an additional developmental function for MBNL proteins and demonstrate that DM is characterized by misregulation of pre-mRNA processing at multiple levels.
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MBNL activity controls alternative polyadenylation events.
“recent studies of Mbnl1/2 dKOs have highlighted MBNL activity in controlling alternative polyadenylation events105,107,108.”
From The neurogenetics of alternative splicing (2016) · cites this paper as [107]
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- Authors
- Batra, R., Charizanis, K., Manchanda, M., Mohan, A., Li, M., Finn, D. J., Goodwin, M., Zhang, C., Sobczak, K., Thornton, C. A., & Swanson, M. S.
- Affiliations
- University of Florida (US)
- Columbia University (US)
- University of Rochester Medicine (US)
- Corresponding author
- Swanson, Maurice S.
- ORCID
- Venue
- Molecular Cell
- Publisher
- Elsevier BV
- Published
- 2014-10
- Volume
- 56
- Issue
- 2
- Pages
- 311-322
- ISSN
- 1097-2765 (ISSN-L)
- PMC
- PMC4224598
- OpenAlex
- W2111730089
- Cited by
- 292
- References
- 41
- Citations by year
- 2026: 10 · 2025: 18 · 2024: 19 · 2023: 21 · 2022: 29 · 2021: 34 · 2020: 29 · 2019: 22 · 2018: 26 · 2017: 36 · 2016: 27 · 2015: 18 · 2014: 3
- FWCI
- 11.47
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Molecular Cell (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health (5u54ns048843-12)
- National Institute of General Medical Sciences (R00GM95713, R00GM095713)
- National Institute of Neurological Disorders and Stroke (P01NS058901, NS058901, NS048843, U54‐NS048843, P50NS048843)
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (AR046799, R01AR046799)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Keywords
- muscleblind-like proteins, MBNL1, MBNL2, alternative polyadenylation, myotonic dystrophy, 3' untranslated region, pre-mRNA processing, developmental regulation, skeletal muscle, HITS-CLIP
- MeSH terms
- Animals, Binding Sites, Carrier Proteins, Cells, Cultured, DNA-Binding Proteins, Humans, Myotonic Dystrophy, Protein Binding, RNA Precursors, RNA Processing, Post-Transcriptional, RNA, Messenger, RNA-Binding Proteins, Alternative Splicing, Muscle, Skeletal, Gene Expression Regulation, Developmental, Microsatellite Repeats, 3' Untranslated Regions, Polyadenylation, RNA Interference, RNA, Small Interfering, Mice
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