Comparative RNA editing in autistic and neurotypical cerebella
Open accessAbstract
Adenosine-to-inosine (A-to-I) RNA editing is a neurodevelopmentally regulated epigenetic modification shown to modulate complex behavior in animals. Little is known about human A-to-I editing, but it is thought to constitute one of many molecular mechanisms connecting environmental stimuli and behavioral outputs. Thus, comprehensive exploration of A-to-I RNA editing in human brains may shed light on gene-environment interactions underlying complex behavior in health and disease. Synaptic function is a main target of A-to-I editing, which can selectively recode key amino acids in synaptic genes, directly altering synaptic strength and duration in response to environmental signals. Here, we performed a high-resolution survey of synaptic A-to-I RNA editing in a human population, and examined how it varies in autism, a neurodevelopmental disorder in which synaptic abnormalities are a common finding. Using ultra-deep (>1000 × ) sequencing, we quantified the levels of A-to-I editing of 10 synaptic genes in postmortem cerebella from 14 neurotypical and 11 autistic individuals. A high dynamic range of editing levels was detected across individuals and editing sites, from 99.6% to below detection limits. In most sites, the extreme ends of the population editing distributions were individuals with autism. Editing was correlated with isoform usage, clusters of correlated sites were identified, and differential editing patterns examined. Finally, a dysfunctional form of the editing enzyme adenosine deaminase acting on RNA B1 was found more commonly in postmortem cerebella from individuals with autism. These results provide a population-level, high-resolution view of A-to-I RNA editing in human cerebella and suggest that A-to-I editing of synaptic genes may be informative for assessing the epigenetic risk for autism.
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A-to-I RNA editing is differentially edited and a dysfunctional form of the adenosine deaminase enzyme involved in RNA editing is present in post-mortem cerebella from individuals with autism.
“A recent study (188) surveyed A-to-I RNA editing in autistic brains and found differential editing patterns and a dysfunctional form of the adenosine deaminase enzyme involved in RNA editing in post-mortem cerebella from individuals with autism.”
From Gene × Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms (2014) · cites this paper as [188]
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Self-citation
- Authors
- Eran, A., Li, J. B., Vatalaro, K., McCarthy, J., Rahimov, F., Collins, C., Markianos, K., Margulies, D. M., Brown, E. N., Calvo, S. E., Kohane, I. S., & Kunkel, L. M.
- Affiliations
- Harvard–MIT Division of Health Sciences and Technology (US)
- Stanford University (US)
- Boston Children's Hospital (US)
- Harvard University (US)
- Broad Institute (US)
- Corresponding author
- Kohane, I S
- Kunkel, L M
- Venue
- Molecular Psychiatry
- Published
- 2012-08-07
- Volume
- 18
- Issue
- 9
- Pages
- 1041-1048
- ISSN
- 1359-4184 (ISSN-L)
- 1476-5578
- PMC
- PMC3494744
- OpenAlex
- W2037667858
- Cited by
- 70
- References
- 75
- Citations by year
- 2026: 2 · 2025: 2 · 2024: 2 · 2023: 7 · 2022: 5 · 2021: 7 · 2020: 11 · 2019: 5 · 2018: 3 · 2017: 7 · 2016: 3 · 2015: 7 · 2014: 5 · 2013: 4
- FWCI
- 2.06
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Molecular Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Autism Speaks (AS1968)
- National Institute of Mental Health (R24MH068855, MH 068855, R01MH085143)
- National Institute of General Medical Sciences (R01GM102484)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NIH-P30-HD-18655, HHSN275200900011C, P30HD018655, N01-HD-90011)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA regulation and disease
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
- Keywords
- A-to-I RNA editing, autism spectrum disorder, cerebellum, synaptic genes, ADAR1, isoform usage, gene-environment interaction, postmortem brain, neurodevelopmental disorders
- MeSH terms
- Adenosine Deaminase, Adolescent, Autistic Disorder, Cerebellum, Child, Child, Preschool, DNA Mutational Analysis, Female, Humans, Male, Numerical Analysis, Computer-Assisted, Gene Library, RNA-Binding Proteins, RNA Editing, Receptors, AMPA, Protein Isoforms, Receptor, Serotonin, 5-HT2C, Kv1.1 Potassium Channel, Young Adult, Transcriptome, Filamins
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