Walters Kevin
Department of Probability and Statistics, University of Sheffield, Sheffield, UK.
Methods Mol Biol. 2011;713:185-97. doi: 10.1007/978-1-60327-416-6_14.
Epigenetics is a fast moving field and our understanding of epigenetic mechanisms has dramatically improved in recent decades. We present the role that epigenetics plays in genomic control in humans; the molecular basis of this control and the role that epigenetic aberrations play in the aetiology of human disease. We outline some of the laboratory techniques for characterising epigenetic variation from methylation analysis of a single CpG to characterising histone variation across extensive genomic regions. The fields of computational epigenetics and population epigenetics have recently emerged and we discuss developments in statistical methods that use DNA methylation as biomarker for the prediction of disease. Finally we describe how DNA methylation errors that occur during somatic cell divisions have been used as a molecular clock that allows inferences about cell population histories to be made.
表观遗传学是一个快速发展的领域，近几十年来我们对表观遗传机制的理解有了显著提高。我们阐述了表观遗传学在人类基因组控制中所起的作用；这种控制的分子基础以及表观遗传异常在人类疾病病因学中所起的作用。我们概述了一些用于表征表观遗传变异的实验室技术，从单个CpG的甲基化分析到跨广泛基因组区域表征组蛋白变异。计算表观遗传学和群体表观遗传学领域最近出现了，我们讨论了使用DNA甲基化作为疾病预测生物标志物的统计方法的进展。最后，我们描述了体细胞分裂过程中发生的DNA甲基化错误如何被用作分子时钟，从而能够推断细胞群体的历史。
