Understanding the role of cis-regulatory elements and three-dimensional chromatin conformation in promoter-enhancer communication provides insight into how genetic variants affect cardiac gene expression.
The cardiomyocytes of the heart components have different electrophysiologic properties ensuring coordinated initiation and conduction of the electrical impulse driving rhythmic contractions. Differences in ion channel gene expression levels contribute to the heterogeneous electrophysiologic properties. Genetic variations and mutations affecting expression of ion channel genes may lead to arrhythmia predisposition and can give rise to potentially life-threatening rhythm disorders, heart failure, and sudden cardiac death. This chapter discusses the role of the transcriptional network and cis-regulatory elements, including (super) enhancers, that control the expression of ion channel genes in the heart components. Insight into the mechanisms by which cis-regulatory elements function to drive expression of various ion channel genes and understanding how the three-dimensional chromatin conformation is important in promoter-enhancer communication will increase our understanding of how disease- and trait-associated genetic variants and mutations affect cardiac gene expression. Original language English Title of host publication Zipes and Jalife's Cardiac Electrophysiology: From Cell to Bedside Publisher Elsevier Pages 138-142 ISBN (Electronic) 9780323757454 ISBN (Print) 9780323757461 DOIs https://doi.org/10.1016/B978-0-323-75745-4.00012-3 Publication status Published - 1 Jan 2021 Publication series Name Zipes and Jalife's Cardiac Electrophysiology: From Cell to Bedside
Man et al. (Fri,) conducted a review in Arrhythmia predisposition, heart failure, and sudden cardiac death. Understanding the role of cis-regulatory elements and three-dimensional chromatin conformation in promoter-enhancer communication provides insight into how genetic variants affect cardiac gene expression.