Genetic variation in cis-regulatory domains suggests cell type-specific regulatory mechanisms in immunity.

ABSTRACT: Studying the interplay between genetic variation, epigenetic changes, and regulation of gene expression is crucial to understand the modification of cellular states in various conditions, including immune diseases. In this study, we characterize the cell-specificity in three key cells of the human immune system by building cis maps of regulatory regions with coordinated activity (CRDs) from ChIP-seq peaks and methylation data. We find that only 33% of CRD-gene associations are shared between cell types, revealing how similarly located regulatory regions provide cell-specific modulation of gene activity. We emphasize important biological mechanisms, as most of our associations are enriched in cell-specific transcription factor binding sites, blood-traits, and immune disease-associated loci.

SUBMITTER: Avalos D 

PROVIDER: S-EPMC10050075 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature