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Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism
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TBR1 regulates autism risk genes in the developing neocortex.

James H Notwell1, Whitney E Heavner2, Siavash Fazel Darbandi3

  • 1Department of Computer Science, Stanford University, Stanford, California 94305, USA;

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TBR1, a gene crucial for brain development, directly regulates autism spectrum disorder (ASD) genes. This regulation helps identify new ASD candidate genes that are essential for normal neocortex development.

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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Autism spectrum disorder (ASD) is linked to de novo loss-of-function (LoF) variants in genes like TBR1.
  • TBR1 is a key regulator of cortical development.

Purpose of the Study:

  • To investigate the role of TBR1 in regulating genes associated with ASD.
  • To identify a network of TBR1-regulated genes in the developing neocortex.

Main Methods:

  • Chromatin immunoprecipitation sequencing (ChIP-seq) to map TBR1 binding sites in mouse cortical neurogenesis.
  • Analysis of gene expression in Tbr1 knockout mice.
  • Assessment of LoF mutation frequencies in human populations.

Main Results:

  • TBR1 binding regions are enriched near ASD genes.
  • TBR1 directly regulates ASD genes involved in cortical development.
  • TBR1-regulated ASD genes show low LoF mutation rates, indicating functional importance.

Conclusions:

  • TBR1 regulates a network of ASD genes in the developing neocortex.
  • These genes are intolerant to LoF mutations, highlighting their critical role in cortical development.
  • Findings provide insights into the genetic basis of ASD and identify potential therapeutic targets.