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Learn MoreMutations in gene regulatory elements have been associated with a wide range of neurological disorders. However, due to their inherent cell type specificity and difficulties in characterizing their regulatory targets, our ability to identify causal genetic variants has remained limited. To address these constraints, we perform integrative analysis of chromatin interactions (promoter capture Hi-C), open chromatin regions (ATAC-seq), and transcriptomes (RNA-seq) in four functionally distinct cell types associated with neurological disorders: iPSC-induced excitatory neurons, hippocampal dentate gyrus (DG)-like neurons, lower motor neurons, and human primary fetal astrocytes. We identify hundreds of thousands of cell type-specific, long-range cis interactions between promoters and distal promoter-interacting regions (PIRs), enabling us to link regulatory elements to their target genes and to identify putative pathways that are dysregulated in disease. SOURCE: Yin Shen (Yin.Shen@ucsf.edu) - Shen Lab Institute for Human Genetics, UCSF
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