A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A
Abstract
The genetic contribution to autism is often attributed to the combined effects of many loci (ten or more). This conclusion is based in part on the much lower concordance for dizygotic (DZ) than for monozygotic (MZ) twins, and is consistent with the failure to find strong evidence for linkage in genome‐wide studies. We propose that the twin data are compatible with oligogenic inheritance combined with a major, genetic or epigenetic, de novo component to the etiology. Based on evidence that maternal but not paternal duplications of chromosome 15q cause autism, we attempted to test the hypothesis that autism involves oligogenic inheritance (two or more loci) and that the Angelman gene ( UBE3A ), which encodes the E6‐AP ubiquitin ligase, is one of the contributing genes. A search for epigenetic abnormalities led to the discovery of a tissue‐specific differentially methylated region (DMR) downstream of the UBE3A coding exons, but the region was not abnormal in autism lymphoblasts or brain samples. Based on evidence for allele sharing in 15q among sib‐pairs, abnormal DNA methylation at the 5′‐CpG island of UBE3A in one of 17 autism brains, and decreased E6‐AP protein in some autism brains, we propose a mixed epigenetic and genetic model for autism with both de novo and inherited contributions. The role of UBE3A may be quantitatively modest, but interacting proteins such as those ubiquitinated by UBE3A may be candidates for a larger role in an oligogenic model. A m ixed e pigenetic and g enetic and mixed d e novo and i nherited (MEGDI) model could be relevant to other “complex disease traits”. © 2004 Wiley‐Liss, Inc.
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Some transcription factors that lack a methyl-CpG binding domain can interact with methylated DNA.
“evidence is emerging to suggest that transcription factors lacking a MBD can also interact with methylated DNA”
From Transcription factors as readers and effectors of DNA methylation (2016) · cites this paper as [25]
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- Authors
- Jiang, Y., Sahoo, T., Michaelis, R. C., Bercovich, D., Bressler, J., Kashork, C. D., Liu, Q., Shaffer, L. G., Schroer, R. J., Stockton, D. W., Spielman, R. S., Stevenson, R. E., & Beaudet, A. L.
- Affiliations
- Baylor College of Medicine (US)
- Greenwood Genetic Center (US)
- University of Pennsylvania (US)
- Corresponding author
- Beaudet, Arthur L.
- ORCID
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2004-08-30
- Volume
- 131A
- Issue
- 1
- Pages
- 1-10
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- OpenAlex
- W2146915584
- Cited by
- 159
- References
- 72
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 3 · 2023: 2 · 2022: 9 · 2021: 4 · 2020: 1 · 2019: 4 · 2018: 2 · 2017: 8 · 2016: 8 · 2015: 3 · 2014: 9 · 2013: 11 · 2012: 8
- FWCI
- 5.38
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Robert J. Kleberg, Jr. and Helen C. Kleberg Foundation
- National Institutes of Health
- National Institute of Mental Health
- National Institute of Diabetes and Digestive and Kidney Diseases (DK 07664)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD 24064, HD-37283, R01HD037283, P30HD024064)
- 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 › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- autism spectrum disorder, oligogenic inheritance, UBE3A, Angelman syndrome, epigenetics, DNA methylation, differentially methylated regions, de novo mutations, monozygotic twin concordance, CpG island methylation, complex disease genetics
- MeSH terms
- Alleles, Autistic Disorder, Brain, Chromosome Aberrations, Chromosomes, Human, Pair 15, DNA, Female, Humans, Male, Models, Genetic, Mutation, Pedigree, Blotting, Southern, Blotting, Western, Deoxyribonuclease BamHI, In Situ Hybridization, Fluorescence, Deoxyribonuclease HpaII, DNA Methylation, Gene Duplication, Ubiquitin-Protein Ligases
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