The role of Pax6 in brain development and its impact on pathogenesis of autism spectrum disorder

Takako Kikkawa, Cristine R. Casingal, Seung Hee Chun, Hiroshi Shinohara, Kotaro Hiraoka, Noriko Osumi

Research output: Contribution to journalReview articlepeer-review

16 Citations (Scopus)


Pax6 transcription factor is a key player in several aspects of brain development and function. Autism spectrum disorder (ASD) is a neurodevelopmental disorder in which several loci and/or genes have been suggested as causative candidate factors. Based on data obtained from meta-analyses of the transcriptome and ChIP analyses, we hypothesized that the neurodevelopmental gene PAX6 regulates and/or binds to a large number of genes (including many ASD-related ones) that modulate the fate of neural stem/progenitor cells and functions of neuronal cells, subsequently affecting animal behavior. Network analyses of PAX6/ASD-related molecules revealed significant clusters of molecular interactions involving regulation of cell–cell adhesion, ion transport, and transcriptional regulation. We discuss a novel function of Pax6 as a chromatin modulator that alters the chromatin status of ASD genes, thereby inducing diverse phenotypes of ASD and related neurodevelopmental diseases.

Original languageEnglish
Pages (from-to)95-103
Number of pages9
JournalBrain research
Publication statusPublished - 2019 Feb 15


  • Autism
  • Pax6
  • Transcriptional regulation

ASJC Scopus subject areas

  • Neuroscience(all)
  • Molecular Biology
  • Clinical Neurology
  • Developmental Biology


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