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AMBRA1, Autophagy, and the Extreme Male Brain Theory of Autism
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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6811796/ https://www.ncbi.nlm.nih.gov/pubmed/31687209 http://dx.doi.org/10.1155/2019/1968580 |
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author | Crespi, Bernard Read, Silven Ly, Amy Hurd, Peter |
author_facet | Crespi, Bernard Read, Silven Ly, Amy Hurd, Peter |
author_sort | Crespi, Bernard |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-6811796 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Hindawi |
record_format | MEDLINE/PubMed |
spelling | pubmed-68117962019-11-04 AMBRA1, Autophagy, and the Extreme Male Brain Theory of Autism Crespi, Bernard Read, Silven Ly, Amy Hurd, Peter Autism Res Treat Research Article 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. Hindawi 2019-10-10 /pmc/articles/PMC6811796/ /pubmed/31687209 http://dx.doi.org/10.1155/2019/1968580 Text en Copyright © 2019 Bernard Crespi et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Article Crespi, Bernard Read, Silven Ly, Amy Hurd, Peter AMBRA1, Autophagy, and the Extreme Male Brain Theory of Autism |
title | AMBRA1, Autophagy, and the Extreme Male Brain Theory of Autism |
title_full | AMBRA1, Autophagy, and the Extreme Male Brain Theory of Autism |
title_fullStr | AMBRA1, Autophagy, and the Extreme Male Brain Theory of Autism |
title_full_unstemmed | AMBRA1, Autophagy, and the Extreme Male Brain Theory of Autism |
title_short | AMBRA1, Autophagy, and the Extreme Male Brain Theory of Autism |
title_sort | ambra1, autophagy, and the extreme male brain theory of autism |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6811796/ https://www.ncbi.nlm.nih.gov/pubmed/31687209 http://dx.doi.org/10.1155/2019/1968580 |
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