DNA甲基化及去甲基化的研究现状及思考.pdfVIP

Hereditas (Beijing) 2014 5 , 36(5): 403―410 综 述 DNA 甲基化和去甲基化的研究现状及思考 , 100142 DNA 甲基化通过调节基因转录、印记、X 染色体灭活和防御外源性遗传物质入侵等, 在细胞分化、胚胎 发育、环境适应和疾病发生发展上发挥重要作用, 是当前表观遗传学研究的热点领域之一。文章介绍了在过去 几年中TET 介导的DNA 羟甲基化及其在早期胚胎发育中的作用, DNA 主动去甲基化及其与被动去甲基化的关 系, DNA 甲基化建立及其与组蛋白修饰、染色质构象、多梳蛋白和非编码RNA 结合等关系方面的重要研究进 展和存在的问题以及DNA 甲基化的转化应用前景。 DNA 甲基化; 去甲基化; 表观遗传学; 稳态; 转化研究 DNA methylation and demethylation: current status and future per- spective Dajun Deng Peking University Cancer Hospital and Institute, Beijing 100142, China Abstract: DNA methylation plays important roles in cell differentiation, embryonic development, host adaptations to environmental factors, and pathogenesis through regulation of gene transcription and imprinting, X-inactivation, and de- fense of foreign genetic material invasion, is currently one of the hottest research fields on epigenetics. In the past few years, a number of important findings on DNA methylation have been achieved. These findings include discovery of TETs-catalyzed cytosine hydroxymethylation and its functions in the early embryonic development; the relationship be- tween active and passive DNA demethylation; establishment and maintenance of DNA methylation patterns and their asso- ciations with histone modifications, chromatin configuration, polycomb group proteins and non-coding RNA bindings. DNA methylation has become a new potential biomarker and therapy target. Keywords: DNA methylation; demethylation; epigenetics; homeostasis; translational research DNA DNA (A) DNA (DNA adenine (C) methylase, DAM) O6- (6mA) , CTAG ,