Enhancer/gene relationships: Need for more reliable genome-wide reference sets.

ABSTRACT: Differences in cells' functions arise from differential activity of regulatory elements, including enhancers. Enhancers are cis-regulatory elements that cooperate with promoters through transcription factors to activate the expression of one or several genes by getting physically close to them in the 3D space of the nucleus. There is increasing evidence that genetic variants associated with common diseases are enriched in enhancers active in cell types relevant to these diseases. Identifying the enhancers associated with genes and conversely, the sets of genes activated by each enhancer (the so-called enhancer/gene or E/G relationships) across cell types, can help understanding the genetic mechanisms underlying human diseases. There are three broad approaches for the genome-wide identifica

SUBMITTER: Hoellinger T 

PROVIDER: S-EPMC9999192 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature