TY  - JOUR
A1  - Gaynor-Gillett, Sophia C.
A1  - Cheng, Lijun
A1  - Shi, Manman
A1  - Liu, Jason
A1  - Wang, Gaoyuan
A1  - Spector, Megan
A1  - Guo, Qiuyu
A1  - Qi, Le
A1  - Flaherty, Mary
A1  - Wall, Martha
A1  - Hwang, Ahyeon
A1  - Gu, Mengting
A1  - Chen, Zhanlin
A1  - Chen, Yuhang
A1  - PsychENCODE Consortium
A1  - Moran, Jennifer R.
A1  - Zhang, Jing
A1  - Lee, Donghoon
A1  - Gerstein, Mark
A1  - Geschwind, Daniel
A1  - White, Kevin P.
T1  - A map of enhancer regions in primary human neural progenitor cells using capture STARR-seq
Y1  - 2025/08/01 
JF  - Genome Research 
JO  - Genome Research 
SP  - 1887 
EP  - 1901 
DO  - 10.1101/gr.279584.124 
VL  - 35 
IS  - 8 
UR  - http://genome.cshlp.org/content/35/8/1887.abstract 
N2  - Genome-wide association studies (GWASs) and expression analyses implicate noncoding regulatory regions as harboring risk factors for psychiatric disease, but functional characterization of these regions remains limited. Here, we perform capture STARR-sequencing of over 70,000 candidate regions to identify active enhancers in primary human neural progenitor cells (phNPCs). We select candidate regions by integrating data from NPCs, prefrontal cortex, developmental timepoints, and GWASs. Over 8000 regions demonstrate enhancer activity in the phNPCs, and we link these regions to over 2200 predicted target genes. These genes are involved in neuronal and psychiatric disease-associated pathways, including neuronal system, nervous system development, and developmental delay. We functionally validate a subset of these enhancers using mutation STARR-sequencing and CRISPR deletions, demonstrating the effects of genetic variation on enhancer activity and enhancer deletion on gene expression. Overall, we identify thousands of highly active enhancers and functionally validated a subset of these enhancers, improving our understanding of regulatory networks underlying brain function and disease. 
ER  -