Cited by 148Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersEpigenetics and DNA Methylation

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Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders

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Zhu, Li, Wang, Xiaoming, Li, Xin-Lei, Towers, Aaron, Cao, Xinyu, Wang, Ping, Bowman, Rachel, Yang, Hyuna, Goldstein, Jennifer, Li, Yi-Ju, Jiang, Yong-Hui·2014·Human Molecular Genetics

DOI 10.1093/hmg/ddt547PMC PMC3929093

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Abstract

The molecular basis for the majority of cases of autism spectrum disorders (ASD) remains unknown. We tested the hypothesis that ASD have an epigenetic cause by performing DNA methylation profiling of five CpG islands (CGI-1 to CGI-5) in the SHANK3 gene in postmortem brain tissues from 54 ASD patients and 43 controls. We found significantly increased overall DNA methylation (epimutation) in three intragenic CGIs (CGI-2, CGI-3 and CGI-4). The increased methylation was clustered in the CGI-2 and CGI-4 in ∼15% of ASD brain tissues. SHANK3 has an extensive array of mRNA splice variants resulting from combinations of five intragenic promoters and alternative splicing of coding exons. Altered expression and alternative splicing of SHANK3 isoforms were observed in brain tissues with increased methylation of SHANK3 CGIs in ASD brain tissues. A DNA methylation inhibitor modified the methylation of CGIs and altered the isoform-specific expression of SHANK3 in cultured cells. This study is the first to find altered methylation patterns in SHANK3 in ASD brain samples. Our finding provides evidence to support an alternative approach to investigating the molecular basis of ASD. The ability to alter the epigenetic modification and expression of SHANK3 by environmental factors suggests that SHANK3 may be a valuable biomarker for dissecting the role of gene and environment interaction in the etiology of ASD.

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Authors: Zhu, L., Wang, X., Li, X.-L., Towers, A., Cao, X., Wang, P., Bowman, R., Yang, H., Goldstein, J., Li, Y.-J., & Jiang, Y.-H.
Affiliations: Duke University (US)
Corresponding author: Jiang, Yong-Hui
ORCID: Wang, Xiaoming
Cao, Xinyu
Wang, Ping
Yang, Hyuna
Goldstein, Jennifer
Li, Yi-Ju
Jiang, Yong-Hui
Venue: Human Molecular Genetics
Publisher: Oxford University Press (OUP)
Published: 2013-11-01
Volume: 23
Issue: 6
Pages: 1563-1578
ISSN: 0964-6906 (ISSN-L)
1460-2083
DOI: 10.1093/hmg/ddt547
PMC: PMC3929093
OpenAlex: W2146527331
Cited by: 147
References: 71
Citations by year: 2026: 8 · 2025: 8 · 2024: 10 · 2023: 16 · 2022: 10 · 2021: 16 · 2020: 11 · 2019: 11 · 2018: 7 · 2017: 8 · 2016: 17 · 2015: 16 · 2014: 9
FWCI: 7.68
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: Human Molecular Genetics (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: Autism Speaks
National Institute of Mental Health (R01MH098114)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (K12HD043494)
Topics: Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
Keywords: autism spectrum disorder, SHANK3, DNA methylation, epigenetic dysregulation, CpG islands, postmortem brain, alternative splicing, splice variants, DNA methylation inhibitors, biomarkers, gene-environment interaction, ASD etiology
MeSH terms: Brain, Child Development Disorders, Pervasive, Exons, Gene Expression Regulation, Humans, Nerve Tissue Proteins, Promoter Regions, Genetic, Alternative Splicing, CpG Islands, DNA Methylation, Protein Isoforms, Epigenesis, Genetic, Cell Line, Tumor, HEK293 Cells, Gene-Environment Interaction

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Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders

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