George Rajani M, Firulli Anthony B
Herman B Wells Center for Pediatric Research Department of Pediatrics, Anatomy, Biochemistry, and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, United States.
Front Cell Dev Biol. 2021 May 6;9:637996. doi: 10.3389/fcell.2021.637996. eCollection 2021.
Epigenetic control of gene expression during cardiac development and disease has been a topic of intense research in recent years. Advances in experimental methods to study DNA accessibility, transcription factor occupancy, and chromatin conformation capture technologies have helped identify regions of chromatin structure that play a role in regulating access of transcription factors to the promoter elements of genes, thereby modulating expression. These chromatin structures facilitate enhancer contacts across large genomic distances and function to insulate genes from -regulatory elements that lie outside the boundaries for the gene of interest. Changes in transcription factor occupancy due to changes in chromatin accessibility have been implicated in congenital heart disease. However, the factors controlling this process and their role in changing gene expression during development or disease remain unclear. In this review, we focus on recent advances in the understanding of epigenetic factors controlling cardiac morphogenesis and their role in diseases.
近年来，心脏发育和疾病过程中基因表达的表观遗传调控一直是深入研究的课题。研究DNA可及性、转录因子占据情况以及染色质构象捕获技术的实验方法取得的进展，有助于识别染色质结构区域，这些区域在调节转录因子与基因启动子元件的结合从而调控基因表达方面发挥作用。这些染色质结构促进了跨越较大基因组距离的增强子相互作用，并起到使基因与感兴趣基因边界之外的调控元件隔离的作用。染色质可及性变化导致的转录因子占据情况改变与先天性心脏病有关。然而，控制这一过程的因素及其在发育或疾病过程中改变基因表达的作用仍不清楚。在本综述中，我们重点关注在理解控制心脏形态发生的表观遗传因素及其在疾病中的作用方面的最新进展。
