title: The role of AUTS2 in neurodevelopment and human evolution.
abstract: The autism susceptibility candidate 2 (AUTS2) gene is associated with multiple neurological diseases, including autism, and has been implicated as an important gene in human-specific evolution. Recent functional analysis of this gene has revealed a potential role in neuronal development. Here, we review the literature regarding AUTS2, including its discovery, expression, association with autism and other neurological and non-neurological traits, implication in human evolution, function, regulation, and genetic pathways. Through progress in clinical genomic analysis, the medical importance of this gene is becoming more apparent, as highlighted in this review, but more work needs to be done to discover the precise function and the genetic pathways associated with AUTS2.
authors.affiliation: Department of Bioengineering and Therapeutic Sciences, and Institute for Human Genetics, University of California, San Francisco (UCSF), 1550 4th Street, San Francisco, CA 94158, USA.
authors.forename: Nir
authors.initials: N
authors.lastname: Oksenberg
authors.forename: Nadav
authors.initials: N
authors.lastname: Ahituv
mesh_terms: D000818:Animals; D005075:Biological Evolution; D003598:Cytoskeletal Proteins; D053263:Gene Regulatory Networks / Q000235:genetics; D006801:Humans; D009420:Nervous System / Q000254:growth & development* / Q000473:pathology*; D009422:Nervous System Diseases / Q000235:genetics; D009687:Nuclear Proteins / Q000378:metabolism; D011506:Proteins / Q000235:genetics* / Q000378:metabolism; D014157:Transcription Factors
chemical_list: C554283:AUTS2 protein, human; D003598:Cytoskeletal Proteins; D009687:Nuclear Proteins; D011506:Proteins; D014157:Transcription Factors
keywords: AUTS2; autism; human evolution; neurodevelopment