The role of AUTS2 in neurodevelopment and human evolution

Trends Genet. 2013 Oct;29(10):600-8. doi: 10.1016/j.tig.2013.08.001. Epub 2013 Sep 2.


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.

Keywords: AUTS2; autism; human evolution; neurodevelopment.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Biological Evolution*
  • Cytoskeletal Proteins
  • Gene Regulatory Networks / genetics
  • Humans
  • Nervous System / growth & development*
  • Nervous System / pathology*
  • Nervous System Diseases / genetics
  • Nuclear Proteins / metabolism
  • Proteins / genetics*
  • Proteins / metabolism
  • Transcription Factors


  • AUTS2 protein, human
  • Cytoskeletal Proteins
  • Nuclear Proteins
  • Proteins
  • Transcription Factors