Broad transcriptomic dysregulation occurs across the cerebral cortex in ASD

Abstract Neuropsychiatric disorders classically lack defining brain pathologies, but recent work has demonstrated dysregulation at the molecular level, characterized by transcriptomic and epigenetic alterations 1–3 . In autism spectrum disorder (ASD), this molecular pathology involves the upregulation of microglial, astrocyte and neural–immune genes, the downregulation of synaptic genes, and attenuation of gene-expression gradients in cortex 1,2,4–6 . However, whether these changes are limited to cortical association regions or are more widespread remains unknown. To address this issue, we performed RNA-sequencing analysis of 725 brain samples spanning 11 cortical areas from 112 post-mortem samples from…

• SF
  Simons Foundation
• AR
  Achievement Rewards for College Scientists Foundation
• CR
  Cooperative Research Centre for Living with Autism
• SF
  Simons Foundation Autism Research Initiative
• NI
  National Institutes of Health

  Awards: P50-MH106438, R01MH110927, MH106438, R01MH109912
• NI
  National Institute of Mental Health

  Awards: U01MH115746, 675474, R01MH110927, P50-MH106438, R01MH094714, R01-MH121521, MH106438, R01-MH123922
• JA
  Jane and Terry Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles