Paternally inherited cis-regulatory structural variants are associated with autism
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Abstract
Inherited variation contributes to autism: About one-quarter of genetic variants that are associated with autism spectrum disorder (ASD) are due to de novo mutations in protein-coding genes. Brandler et al. wanted to determine whether changes in noncoding regions of the genome are associated with autism. They applied whole-genome sequencing to ∼2600 families with at least one affected child. Children with ASD had inherited structural variants in noncoding regions from their father. Regulatory regions of some specific genes were disrupted among multiple families, supporting the idea that a component of autism risk involves inherited noncoding variation. Science , this issue p. 327
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More complex structural DNA variations are involved in ASD.
“More complex structural DNA variations are also involved in ASD15,16.”
From Genome-wide detection of tandem DNA repeats that are expanded in autism (2020) · cites this paper as [16]
Whole-genome analysis of structural variants in large samples has captured inherited variants including deletions disrupting individual genes or cis-regulatory elements.
“Recently, whole genome analysis of SVs in large samples has succeeded in capturing a broader array of inherited variants including deletions that disrupt individual genes or cis-regulatory elements (Brandler et al., 2018).”
From Getting to the cores of autism (2019) · cites this paper as Brandler et al., 2018
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Genetic Instability and Chromatin Remodeling in Spermatids
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Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder
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- Authors
- Brandler, W. M., Antaki, D., Gujral, M., Kleiber, M. L., Whitney, J., Maile, M. S., Hong, O., Chapman, T. R., Tan, S., Tandon, P., Pang, T., Tang, S. C., Vaux, K. K., Yang, Y., Harrington, E., Juul, S., Turner, D. J., Thiruvahindrapuram, B., Kaur, G., Wang, Z., Kingsmore, S. F., Gleeson, J. G., Bisson, D., Kakaradov, B., Telenti, A., Venter, J. C., Corominas, R., Toma, C., Cormand, B., Rueda, I., Guijarro, S., Messer, K. S., Nievergelt, C. M., Arranz, M. J., Courchesne, E., Pierce, K., Muotri, A. R., Iakoucheva, L. M., Hervas, A., Scherer, S. W., Corsello, C., & Sebat, J.
- Affiliations
- University of California San Diego (US)
- Hospital for Sick Children (CA)
- Oxford Nanopore Technologies, Inc., NY 10013, USA.
- Oxford Nanopore Technologies Ltd., Oxford, UK.
- Rady Children's Hospital-San Diego (US)
- Howard Hughes Medical Institute (US)
- Human Longevity (United States) (US)
- J. Craig Venter Institute (US)
- Universitat Pompeu Fabra (ES)
- Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, Catalonia, Spain.
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Hospital Sant Joan de Déu Barcelona (ES)
- University Hospital Mútua de Terrassa (ES)
- Child and Adolescent Mental Health Unit, Hospital Universitari Mútua de Terrassa, Barcelona, Spain.
- University of Toronto (CA)
- Corresponding author
- Brandler, William M.
- Antaki, Danny
- Gujral, Madhusudan
- Sebat, Jonathan
- ORCID
- Brandler, William M.
- Antaki, Danny
- Gujral, Madhusudan
- Kleiber, Morgan L.
- Whitney, Joe
- Maile, Michelle S.
- Hong, Oanh
- Pang, Timothy
- Tang, Shih C.
- Vaux, Keith K.
- Harrington, Eoghan
- Juul, Sissel
- Turner, Daniel J.
- Thiruvahindrapuram, Bhooma
- Kaur, Gaganjot
- Wang, Zhuozhi
- Kingsmore, Stephen F.
- Gleeson, Joseph G.
- Bisson, Denis
- Kakaradov, Boyko
- Telenti, Amalio
- Venter, J. Craig
- Corominas, Roser
- Cormand, Bru
- Rueda, Isabel
- Guijarro, Silvina
- Messer, Karen S.
- Nievergelt, Caroline M.
- Arranz, Maria J.
- Courchesne, Eric
- Pierce, Karen
- Muotri, Alysson R.
- Iakoucheva, Lilia M.
- Scherer, Stephen W.
- Corsello, Christina
- Sebat, Jonathan
- Venue
- Science
- Published
- 2018-04-20
- Volume
- 360
- Issue
- 6386
- Pages
- 327-331
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- PMC
- PMC6449150
- OpenAlex
- W2799343775
- Cited by
- 209
- References
- 86
- Citations by year
- 2026: 6 · 2025: 16 · 2024: 17 · 2023: 21 · 2022: 27 · 2021: 31 · 2020: 32 · 2019: 35 · 2018: 20 · 2017: 4
- FWCI
- 17.57
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Science (publishedVersion)
- bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by-nd)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- DIGITAL.CSIC (Spanish National Research Council (CSIC)) (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- National Institutes of Health (MH076431, R01MH108528, R01MH109885, GM008666, R21MH104766, RO1MH105524, RO1MH109885)
- California Institute for Regenerative Medicine (IT1-06611)
- Simons Foundation (345469, 275724)
- National Institute of Mental Health (R01MH110558, MH113715, I-P50-MH081755)
- Autism Speaks (MSSNG)
- Autism Enlight Foundation
- GlaxoSmithKline (CIHR-Chair)
- Genome Canada (LSARP)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- autism spectrum disorder, non-coding variants, natural selection, transmission distortion, promoter, untranslated regions, de novo mutations, genetic susceptibility
- MeSH terms
- Autism Spectrum Disorder, Paternal Inheritance, Exons, Gene Expression Regulation, Humans, Mutation, Pedigree, Promoter Regions, Genetic, Selection, Genetic, Transcription Factors, Genetic Variation, Genome, Human, Sequence Deletion, Genetic Predisposition to Disease, RNA, Untranslated
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