The role of DNA methylation and histone modifications in transcriptional regulation in humans.
The role of DNA methylation and histone modifications in transcriptional regulation in humans.
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DOI：
10.1007/978-94-007-4525-4_13
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发表时间：
2013
影响因子：
--
通讯作者：
Grant PA
中科院分区：
文献类型：
--
作者：
Miller JL;Grant PA
尽管遗传学领域在过去十年中由于人类基因组序列的完成和可用性而突飞猛进，但转录调控仍然不能仅由个体的DNA序列来解释。大量保守的染色质修饰因子之间的复杂协调和沟通对于所有生物体都是必不可少的。基因表达的调控依赖于组蛋白翻译后修饰（HPTM）、DNA甲基化、组蛋白变体、重塑酶和影响染色质结构和功能的效应蛋白，其影响广泛的细胞过程，如DNA修复、DNA复制、生长和增殖。如果突变或缺失，这些因子中的许多可在转录调节水平上导致人类疾病。最近研究的共同目标是了解基因表达改变阶段的疾病状态。利用从新的高通量技术和分析中获得的信息将有助于生物医学研究开发在基因表达的最基本水平之一染色质上起作用的治疗方法。本章将讨论组蛋白修饰和DNA甲基化对转录调控的影响及其机制。
Although the field of genetics has grown by leaps and bounds within the last decade due to the completion and availability of the human genome sequence, transcriptional regulation still cannot be explained solely by an individual’s DNA sequence. Complex coordination and communication between a plethora of well-conserved chromatin modifying factors are essential for all organisms. Regulation of gene expression depends on histone post translational modifications (HPTMs), DNA methylation, histone variants, remodeling enzymes, and effector proteins that influence the structure and function of chromatin, which affects a broad spectrum of cellular processes such as DNA repair, DNA replication, growth, and proliferation. If mutated or deleted, many of these factors can result in human disease at the level of transcriptional regulation. The common goal of recent studies is to understand disease states at the stage of altered gene expression. Utilizing information gained from new high-throughput techniques and analyses will aid biomedical research in the development of treatments that work at one of the most basic level of gene expression, chromatin. This chapter will discuss the effects of and mechanism by which histone modifications and DNA methylation affect transcriptional regulation.