Validation of Enhancer Regions in Primary Human Neural Progenitor Cells using Capture STARR-seq.

ABSTRACT: Genome-wide association studies (GWAS) and expression analyses implicate noncoding regulatory regions as harboring risk factors for psychiatric disease, but functional characterization of these regions remains limited. We performed capture STARR-sequencing of over 78,000 candidate regions to identify active enhancers in primary human neural progenitor cells (phNPCs). We selected candidate regions by integrating data from NPCs, prefrontal cortex, developmental timepoints, and GWAS. Over 8,000 regions demonstrated enhancer activity in the phNPCs, and we linked these regions to over 2,200 predicted target genes. These genes are involved in neuronal and psychiatric disease-associated pathways, including dopaminergic synapse, axon guidance, and schizophrenia. We functionally validated a subset

SUBMITTER: Gaynor-Gillett SC 

PROVIDER: S-EPMC10983874 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature