Using a comprehensive atlas and predictive models to reveal the complexity and evolution of brain-active regulatory elements.

ABSTRACT: Most genetic variants associated with psychiatric disorders are located in noncoding regions of the genome. To investigate their functional implications, we integrate epigenetic data from the PsychENCODE Consortium and other published sources to construct a comprehensive atlas of candidate brain cis-regulatory elements. Using deep learning, we model these elements' sequence syntax and predict how binding sites for lineage-specific transcription factors contribute to cell type-specific gene regulation in various types of glia and neurons. The elements' evolutionary history suggests that new regulatory information in the brain emerges primarily via smaller sequence mutations within conserved mammalian elements rather than entirely new human- or primate-specific sequences. However, primate-sp

SUBMITTER: Pratt HE 

PROVIDER: S-EPMC11114231 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature