First glimpses of the neurobiology of autism spectrum disorder

Curr Opin Genet Dev. 2015 Aug:33:80-92. doi: 10.1016/j.gde.2015.10.002. Epub 2015 Nov 9.


Rapid progress in identifying the genes underlying autism spectrum disorder (ASD) has provided the substrate for a first wave of analyses into the underlying neurobiology. This review describes the consensus across these diverse analyses, highlighting two distinct sets of genes: 1) Genes that regulate chromatin and transcription, especially in cortical projection neurons and striatal medium spiny neurons during mid-fetal development; and 2) Genes involved in synapse development and function, especially during infancy and early childhood, and differentially expressed in the post mortem ASD brain. Both gene sets are also regulatory targets of the ASD genes CHD8 and FMRP. It remains to be seen whether these represent two independent paths to the ASD phenotype or two components of a common path.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Autism Spectrum Disorder / genetics*
  • Autism Spectrum Disorder / metabolism
  • Autism Spectrum Disorder / pathology
  • Child
  • Child, Preschool
  • Chromatin / genetics
  • DNA-Binding Proteins / genetics
  • Fragile X Mental Retardation Protein / genetics
  • Gene Expression Regulation, Developmental
  • Humans
  • Infant
  • Infant, Newborn
  • Neurons / metabolism*
  • Neurons / pathology
  • Synapses / genetics*
  • Synapses / metabolism
  • Transcription Factors / genetics
  • Transcription, Genetic
  • Visual Cortex / growth & development*
  • Visual Cortex / metabolism


  • CHD8 protein, human
  • Chromatin
  • DNA-Binding Proteins
  • FMR1 protein, human
  • Transcription Factors
  • Fragile X Mental Retardation Protein