title: If genetic variation could talk: What genomic data may teach us about the importance of gene expression regulation in the genetics of autism.
abstract: Autism spectrum disorder (ASD) has been long known to have substantial genetic etiology. Much research has attempted to identify specific genes contributing to ASD risk with the goal of tying gene function to a molecular pathological explanation for ASD. A unifying molecular pathology would potentially increase understanding of what is going wrong during development, and could lead to diagnostic biomarkers or targeted preventative or therapeutic directions. We review past and current genetic mapping approaches and discuss major results, leading to the hypothesis that global dysregulation of gene or protein expression may be implicated in ASD rather than disturbance of brain-specific functions. If substantiated, this hypothesis might indicate the need for novel experimental and analytical approaches in order to understand this neurodevelopmental disorder, develop biomarkers, or consider treatment approaches.
authors.affiliation: Department of Psychiatry, University of California, San Francisco, San Francisco, CA, 94143, USA.
authors.forename: Erika
authors.initials: E
authors.lastname: Yeh
authors.affiliation: Department of Psychiatry, University of California, San Francisco, San Francisco, CA, 94143, USA; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, 94143, USA. Electronic address: lauren.weiss@ucsf.edu.
authors.forename: Lauren A
authors.initials: LA
authors.lastname: Weiss
mesh_terms: D001321:Autistic Disorder / Q000235:genetics*; D001921:Brain / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D002869:Chromosome Aberrations; D056915:DNA Copy Number Variations; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D023281:Genomics; D006801:Humans
keywords: Autism spectrum disorder; Gene expression; Gene mapping; Molecular pathology