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Gene expression in human brain implicates sexually dimorphic pathways in autism spectrum disorders.
Donna M Werling1, Neelroop N Parikshak1, Daniel H Geschwind1,2,3,4
1Center for Neurobehavioral Genetics, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California 90095, USA.
Nature Communications
|February 20, 2016
Summary
Autism spectrum disorder (ASD) shows a higher prevalence in males. This study suggests naturally occurring sex differences in brain gene expression, not sex-specific regulation of ASD risk genes, contribute to this disparity.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- Autism spectrum disorder (ASD) exhibits a higher prevalence in males, but the underlying biological mechanisms remain unclear.
- Current hypotheses suggest either sex-differential regulation of ASD risk genes or their interaction with sexually dimorphic pathways.
Purpose of the Study:
- To investigate the role of sexually dimorphic gene expression in the human neocortex in relation to ASD risk.
- To determine if ASD risk genes are systematically sex-differentially expressed or if they interact with existing sex differences in gene regulation.
Main Methods:
- Analysis of multiple gene expression datasets from neurotypical adult and prenatal human neocortical tissue.
- Evaluation of ASD risk genes for sex-biased expression patterns.
Main Results:
- No evidence was found for systematic sex-differential expression of known ASD risk genes.
- Genes with higher expression levels in males were significantly enriched for genes upregulated in post-mortem autistic brain tissue, including markers for astrocytes and microglia.
Conclusions:
- The sex bias in ASD prevalence may stem from naturally occurring sexually dimorphic processes in the brain, rather than sex-specific regulation of ASD risk genes.
- Interactions between neuronal and glial cells within these sexually dimorphic pathways may modulate the impact of genetic risk variants for ASD.
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