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Japanese Study Identifies RABGGTB as a Novel Gene Linked to Autism

Epigenetic profiling of the brain's dorsal raphe nuclei reveals DNA methylation anomalies tied to sensory and serotonin pathway disruptions in ASD.

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Epigenetic profiling is a process that analyzes chemical modifications on DNA that affect gene regulation. Credit: Neuroscience News
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Overview

  • Researchers from Japan conducted genome-wide DNA methylation mapping of the dorsal raphe nuclei in individuals with autism spectrum disorder (ASD).
  • The study identified hypermethylation in OR2C3 and HTR2C, linking these changes to sensory processing and serotonin signaling disruptions in ASD.
  • A novel gene, RABGGTB, was discovered to have promoter hypomethylation and elevated expression, marking it as a new autism candidate gene absent from the SFARI database.
  • The research utilized advanced methods, including the Infinium HumanMethylation450 BeadChip array and EM-amplicon sequencing, for detailed epigenetic analysis.
  • Authors emphasize the need for integrative studies combining DNA methylation and transcriptomic data to establish causal links between epigenetic changes and gene expression.