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Function and regulation of AUTS2, a gene implicated in autism and human evolution.

Nucleotide changes in the AUTS2 locus, some of which affect only noncoding regions, are associated with autism and other neurological disorders, including attention deficit hyperactivity disorder, epilepsy, dyslexia, motor delay, language delay, visual impairment, microcephaly, and alcohol consumption. In addition, AUTS2 contains the most significantly accelerated genomic region differentiating humans from Neanderthals, which is primarily composed of noncoding variants. However, the function and regulation of this gene remain largely unknown. To characterize auts2 function, we knocked it down in zebrafish, leading to a smaller head size, neuronal reduction, and decreased mobility. To characterize AUTS2 regulatory elements, we tested sequences for enhancer activity in zebrafish and mice. We identified 23 functional zebrafish enhancers, 10 of which were active in the brain. Our mouse enhancer assays characterized three mouse brain enhancers that overlap an ASD-associated deletion and four mouse enhancers that reside in regions implicated in human evolution, two of which are active in the brain. Combined, our results show that AUTS2 is important for neurodevelopment and expose candidate enhancer sequences in which nucleotide variation could lead to neurological disease and human-specific traits.

Pubmed ID: 23349641


  • Oksenberg N
  • Stevison L
  • Wall JD
  • Ahituv N


PLoS genetics

Publication Data

January 25, 2013

Associated Grants

  • Agency: NIGMS NIH HHS, Id: GM61390
  • Agency: NIDDK NIH HHS, Id: P30 DK063720
  • Agency: NICHD NIH HHS, Id: R01 HD059862
  • Agency: NHGRI NIH HHS, Id: R01 HG006768
  • Agency: NINDS NIH HHS, Id: R01 NS079231
  • Agency: NIDDK NIH HHS, Id: R01DK090382
  • Agency: NICHD NIH HHS, Id: R01HD059862
  • Agency: NHGRI NIH HHS, Id: R01HG005058
  • Agency: NHGRI NIH HHS, Id: R01HG005226
  • Agency: NINDS NIH HHS, Id: R01NS079231
  • Agency: NIGMS NIH HHS, Id: T32 GM008568
  • Agency: NIGMS NIH HHS, Id: U19 GM061390

Mesh Terms

  • Animals
  • Autistic Disorder
  • Base Sequence
  • Biological Evolution
  • Enhancer Elements, Genetic
  • Genomics
  • Head
  • Humans
  • Mice
  • Neanderthals
  • Neurons
  • Phenotype
  • Proteins
  • Zebrafish