《生命科学》 2018, 30(4): 366-373
摘 要：摘 要：DNA 甲基化(5mC) 状态与疾病的发生发展密切相关，异常甲基化状态是肿瘤的重要特征，包括基因组整体甲基化水平降低和CpG 岛局部甲基化程度的异常升高。近期研究还发现，DNA 甲基化可以继续氧化为DNA 羟甲基化(5hmC)，而5hmC 可能是一种新的表观修饰或者参与DNA 去甲基化。随着DNA 甲基化测序技术的发展，可以得到全基因组单碱基分辨率的5mC 和5hmC 图谱，深入研究5mC 和5hmC 的动态变化对发育和肿瘤的影响，并期望找到潜在应用于肿瘤诊断和治疗的表观标志物。该文主要总结了DNA 甲基化/去甲基化及其在肿瘤发生发展过程中的动态变化、潜在的表观标志物以及检测和治疗研究进展。
Abstract: Abstract: DNA methylation (5mC) is widely distributed in mammal cells. DNA methylation reprogramming has been proposed to be involved in development and tumorigenesis. Previous studies indicate that DNA hydroxymethylation (5hmC) generated from 5mC oxidation is not just an intermediate of DNA demethylation， but may be functional as a stable epigenetic mark. With the development of 5mC and 5hmC sequencing techniques， we can achieve 5mC and 5hmC patterns at single-nucleotide resolution. By further exploring the DNA methylation/DNA demethylation reprogramming during embryonic development and tumorigenesis， we aimed to evaluate the functional role of DNA methylation reprogramming and the potential intervention strategies for cancers. Thus， in this review， we provide an overview of the DNA methylation/demethylation reprogramming during embryonic development and tumorigenesis， and discuss recent findings on the potential epigenetic markers for tumour detection and treatment.
