AMBRA1, Autophagy, and the Extreme Male Brain Theory of Autism

Resource type
Date created
2019-10-10
Authors/Contributors
Author: Read, Silven
Author: Ly, Amy
Author: Hurd, Peter
Abstract
The extreme male brain theory of autism posits that its male bias is mediated by exaggeration of male-biased sex differences in the expression of autism-associated traits found in typical populations. The theory is supported by extensive phenotypic evidence, but no genes have yet been described with properties that fit its predictions. The autophagy-associated gene AMBRA1 represents one of the top genome-wide “hits” in recent GWAS studies of schizophrenia, shows sex-differential expression, and has been linked with autism risk and traits in humans and mice, especially or exclusively among females. We genotyped the AMBRA1 autism-risk SNP in a population of typical humans who were scored for the dimensional expression of autistic and schizotypal traits. Females, but not males, homozygous for the GG genotype showed a significant increase in score for the single trait, the Autism Quotient-Imagination subscale, that exhibits a strong, significant male bias in typical populations. As such, females with this genotype resembled males for this highly sexually dimorphic, autism-associated phenotype. These findings support the extreme male brain hypothesis and indicate that sex-specific genetic effects can mediate aspects of risk for autism.
Document
Published as
Bernard Crespi, Silven Read, Amy Ly, and Peter Hurd, “AMBRA1, Autophagy, and the Extreme Male Brain Theory of Autism,” Autism Research and Treatment, vol. 2019, Article ID 1968580, 6 pages, 2019. DOI: 10.1155/2019/1968580.
Publication title
Autism Research and Treatment
Document title
AMBRA1, Autophagy, and the Extreme Male Brain Theory of Autism
Date
2019
Publisher DOI
10.1155/2019/1968580
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Copyright is held by the author(s).
Scholarly level
Peer reviewed?
Yes
Language
Member of collection
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1968580.pdf 1.51 MB