Enhancer–promoter specificity in gene transcription: molecular mechanisms and disease associations

Experimental & Molecular Medicine, Published online: 25 April 2024; doi:10.1038/s12276-024-01233-yThis review summarizes the current understanding of enhancer-promoter interactions (EPIs), a key feature of genome structure, in gene regulation and disease. EPIs are crucial for proper gene activity, and their alteration by mutational events can be pathological, causing, among others, cancer, and neurodevelopmental disorders. The authors provide an overview of various methods used to study 3D genome architecture (the physical structure of chromosomes) and discuss recent insights that these techniques have afforded, especially with regard to the specificity and dynamics of EPIs as well as the underlying molecular mechanisms. The review highlights the broad experimental utility of CRISPR-based strategies and their therapeutic potential for targeting disease-related EPIs. While substantial progress has been made, further elucidation of the physical and functional interplay of enhancers with their cognate promoter(s) will reveal new treatment opportunities for many diseases.This summary was initially drafted using artificial intelligence, then revised and fact-checked by the author.
Source: Experimental and Molecular Medicine - Category: Molecular Biology Authors: Source Type: research