Department of Reproductive Medicine, University of California, San Diego, California 92103, USA.
J Cell Biochem. 2010 Jan 1;109(1):1-6. doi: 10.1002/jcb.22374.
Embryonic stem cells (ESCs) are pluripotent, self-renewing cells. These cells can be used in applications such as cell therapy, drug development, disease modeling, and the study of cellular differentiation. Investigating the interplay of epigenetics, genetics, and gene expression in control of pluripotence and differentiation could give important insights on how these cells function. One of the best known epigenetic factors is DNA methylation, which is a major mechanism for regulation of gene expression. This phenomenon is mostly seen in imprinted genes and X-chromosome inactivation where DNA methylation of promoter regions leads to repression of gene expression. Differential DNA methylation of pluripotence-associated genes such as Nanog and Oct4/Pou5f1 has been observed between pluripotent and differentiated cells. It is clear that tight regulation of DNA methylation is necessary for normal development. As more associations between aberrant DNA methylation and disease are reported, the demand for high-throughput approaches for DNA methylation analysis has increased. In this article, we highlight these methods and discuss recent DNA methylation studies on ESCs.
胚胎干细胞（ESCs）是多能、自我更新的细胞。这些细胞可用于细胞治疗、药物开发、疾病建模和细胞分化研究等应用。研究表观遗传学、遗传学和基因表达在多能性和分化控制中的相互作用，可以深入了解这些细胞的功能。最著名的表观遗传因子之一是 DNA 甲基化，它是调节基因表达的主要机制。这种现象主要见于印记基因和 X 染色体失活，其中启动子区域的 DNA 甲基化导致基因表达受到抑制。在多能性和分化细胞之间观察到与多能性相关的基因（如 Nanog 和 Oct4/Pou5f1）的 DNA 甲基化存在差异。显然，DNA 甲基化的严格调控对于正常发育是必要的。随着越来越多的报道表明异常 DNA 甲基化与疾病之间存在关联，对高通量 DNA 甲基化分析方法的需求也在增加。本文重点介绍这些方法，并讨论 ESCs 的最新 DNA 甲基化研究。
