Identification of a distal enhancer regulating hedgehog interacting protein gene in human lung epithelial cells.

ABSTRACT:

Background

An intergenic region at chromosome 4q31 is one of the most significant regions associated with COPD susceptibility and lung function in GWAS. In this region, the implicated causal gene HHIP has a unique epithelial expression pattern in adult human lungs, in contrast to dominant expression in fibroblasts in murine lungs. However, the mechanism underlying the species-dependent cell type-specific regulation of HHIP remains largely unknown.

Methods

We employed snATAC-seq analysis to identify open chromatin regions within the COPD GWAS region in various human lung cell types. ChIP-quantitative PCR, reporter assays, chromatin conformation capture assays and Hi-C assays were conducted to characterize the regulatory element in this region. CRISPR/Cas9-editing was performe

SUBMITTER: Guo F 

PROVIDER: S-EPMC10944180 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature