First glimpses of the neurobiology of autism spectrum disorder
Abstract
Rapid progress in identifying the genes underlying autism spectrum disorder (ASD) has provided the substrate for a first wave of analyses into the underlying neurobiology. This review describes the consensus across these diverse analyses, highlighting two distinct sets of genes: 1) Genes that regulate chromatin and transcription, especially in cortical projection neurons and striatal medium spiny neurons during mid-fetal development; and 2) Genes involved in synapse development and function, especially during infancy and early childhood, and differentially expressed in the post mortem ASD brain. Both gene sets are also regulatory targets of the ASD genes CHD8 and FMRP. It remains to be seen whether these represent two independent paths to the ASD phenotype or two components of a common path.
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The neurobiological mechanisms by which genetic variation confers risk for these disorders remain largely unknown.
“However, the neurobiological mechanisms through which genetic variation imparts risk, both individually and in aggregate, are still largely unknown (4–6).”
From Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder (2018) · cites this paper as [6]
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- Authors
- Sanders, S. J.
- Affiliations
- University of California, San Francisco (US)
- Corresponding author
- Sanders, Stephan J
- ORCID
- Sanders, Stephan J
- Venue
- Current Opinion in Genetics & Development
- Publisher
- Elsevier BV
- Published
- 2015-08
- Volume
- 33
- Pages
- 80-92
- ISSN
- 0959-437X (ISSN-L)
- OpenAlex
- W2161508377
- Cited by
- 84
- References
- 75
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 3 · 2023: 4 · 2022: 11 · 2021: 9 · 2020: 8 · 2019: 8 · 2018: 14 · 2017: 11 · 2016: 11
- FWCI
- 1.52
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Current Opinion in Genetics & Development (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
- Keywords
- autism spectrum disorder, neurobiology, chromatin regulation, transcription, cortical projection neurons, striatal medium spiny neurons, synaptic development, postmortem brain, CHD8, FMRP, fetal development
- MeSH terms
- Autism Spectrum Disorder, Child, Child, Preschool, Chromatin, DNA-Binding Proteins, Humans, Infant, Infant, Newborn, Neurons, Synapses, Transcription Factors, Transcription, Genetic, Visual Cortex, Gene Expression Regulation, Developmental, Fragile X Mental Retardation Protein, Fragile X Messenger Ribonucleoprotein 1
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