Bock Christoph, Lengauer Thomas
Max-Planck-Institut für Informatik, Saarbrücken, Germany.
Bioinformatics. 2008 Jan 1;24(1):1-10. doi: 10.1093/bioinformatics/btm546. Epub 2007 Nov 17.
Epigenetic research aims to understand heritable gene regulation that is not directly encoded in the DNA sequence. Epigenetic mechanisms such as DNA methylation and histone modifications modulate the packaging of the DNA in the nucleus and thereby influence gene expression. Patterns of epigenetic information are faithfully propagated over multiple cell divisions, which makes epigenetic regulation a key mechanism for cellular differentiation and cell fate decisions. In addition, incomplete erasure of epigenetic information can lead to complex patterns of non-Mendelian inheritance. Stochastic and environment-induced epigenetic defects are known to play a major role in cancer and ageing, and they may also contribute to mental disorders and autoimmune diseases. Recent technical advances such as ChIP-on-chip and ChIP-seq have started to convert epigenetic research into a high-throughput endeavor, to which bioinformatics is expected to make significant contributions. Here, we review pioneering computational studies that have contributed to epigenetic research. In addition, we give a brief introduction into epigenetics-targeted at bioinformaticians who are new to the field-and we outline future challenges in computational epigenetics.
表观遗传学研究旨在理解并非直接编码于DNA序列中的可遗传基因调控。诸如DNA甲基化和组蛋白修饰等表观遗传机制可调节细胞核中DNA的包装，从而影响基因表达。表观遗传信息模式在多个细胞分裂过程中得以忠实地传递，这使得表观遗传调控成为细胞分化和细胞命运决定的关键机制。此外，表观遗传信息的不完全擦除可导致复杂的非孟德尔遗传模式。已知随机和环境诱导的表观遗传缺陷在癌症和衰老过程中起主要作用，它们也可能导致精神障碍和自身免疫性疾病。诸如芯片上的染色质免疫沉淀（ChIP-on-chip）和染色质免疫沉淀测序（ChIP-seq）等近期技术进展已开始将表观遗传学研究转变为一项高通量工作，预计生物信息学将对此做出重大贡献。在此，我们回顾了对表观遗传学研究有贡献的开创性计算研究。此外，我们针对该领域的新手生物信息学家对表观遗传学进行了简要介绍，并概述了计算表观遗传学未来面临的挑战。
