Misregulation of an Activity-Dependent Splicing Network as a Common Mechanism Underlying Autism Spectrum Disorders
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A key challenge in understanding and ultimately treating autism is to identify common molecular mechanisms underlying this genetically heterogeneous disorder. Transcriptomic profiling of autistic brains has revealed correlated misregulation of the neuronal splicing regulator nSR100/SRRM4 and its target microexon splicing program in more than one-third of analyzed individuals. To investigate whether nSR100 misregulation is causally linked to autism, we generated mutant mice with reduced levels of this protein and its target splicing program. Remarkably, these mice display multiple autistic-like features, including altered social behaviors, synaptic density, and signaling. Moreover, increased neuronal activity, which is often associated with autism, results in a rapid decrease in nSR100 and splicing of microexons that significantly overlap those misregulated in autistic brains. Collectively, our results provide evidence that misregulation of an nSR100-dependent splicing network controlled by changes in neuronal activity is causally linked to a substantial fraction of autism cases.
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Several studies have demonstrated that genes carrying microexons are preferentially expressed in brain and their splicing is dysregulated in autism spectrum disorder.
“several studies have demonstrated that genes carrying microexons are preferentially expressed in brain and their splicing is dysregulated in ASD (30, 82, 83).”
From Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder (2018) · cites this paper as [83]
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Self-citationThe non-coding genome in Autism Spectrum Disorders
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From Tiny Exons to Big Insights: The Expanding Field of Microexons
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Self-citationDo Fragile X Syndrome and Other Intellectual Disorders Converge at Aberrant Pre-mRNA Splicing?
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Evolution Increases Primates Brain Complexity Extending RbFOX1 Splicing Activity to LSD1 Modulation
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- Authors
- Quesnel-Vallières, M., Dargaei, Z., Irimia, M., Gonatopoulos-Pournatzis, T., Ip, J. Y., Wu, M., Sterne-Weiler, T., Nakagawa, S., Woodin, M. A., Blencowe, B. J., & Cordes, S. P.
- Affiliations
- Mount Sinai Hospital (CA)
- University of Toronto (CA)
- Universitat Pompeu Fabra (ES)
- RIKEN (JP)
- Corresponding author
- Blencowe, Benjamin J.
- Cordes, Sabine P.
- ORCID
- Venue
- Molecular Cell
- Publisher
- Elsevier BV
- Published
- 2016-12
- Volume
- 64
- Issue
- 6
- Pages
- 1023-1034
- ISSN
- 1097-2765 (ISSN-L)
- OpenAlex
- W2567608080
- Cited by
- 178
- References
- 58
- Citations by year
- 2026: 12 · 2025: 17 · 2024: 16 · 2023: 18 · 2022: 16 · 2021: 17 · 2020: 43 · 2019: 15 · 2018: 16 · 2017: 7
- FWCI
- 6.59
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Molecular Cell (publishedVersion)
- PubMed (publishedVersion)
- Repositori digital de la UPF (Universitat Pompeu Fabra) (submittedVersion)
- Funders
- CIHR (MOP#111199, MOP#142340, MOP#14609, FDN#148434, MOP#123466)
- ERC (ERC-StG-LS2-637591)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Keywords
- autism spectrum disorder, SRRM4, alternative splicing, neuronal activity, social behavior, synaptic density, mouse mutants
- MeSH terms
- Autism Spectrum Disorder, Animals, Disease Models, Animal, Embryo, Mammalian, Exons, Female, Humans, Male, Membrane Potentials, Mice, Inbred C57BL, Nerve Tissue Proteins, Synaptic Transmission, Neurons, Reflex, Startle, Gene Expression, Alternative Splicing, Mice, Haploinsufficiency
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