Putiri Emily L, Robertson Keith D
Department of Biochemistry and Molecular Biology, Cancer Research Center, CN-2151, Medical College of Georgia, 1410 Laney Walker Blvd., Augusta, GA 30912, USA.
Clin Epigenetics. 2011 Aug 1;2(2):299-314. doi: 10.1007/s13148-010-0017-z.
Epigenetic marks are well recognized as heritable chemical modifications of DNA and chromatin that induce chromatin structural changes thereby affecting gene activity. A lesser-known phenomenon is the pervasive effects these marks have on genomic integrity. Remarkably, epigenetic marks and the enzymes that establish them are involved in multiple aspects of maintaining genetic content. These aspects include preserving nucleotide sequences such as repetitive elements, preventing DNA damage, functioning in DNA repair mechanisms and chromatin restoration, and defining chromosomal organization through effects on structural elements such as the centromere. This review discusses these functional aspects of epigenetic marks and their effects on human health and disease.
表观遗传标记是DNA和染色质可遗传的化学修饰，可诱导染色质结构变化，从而影响基因活性。一个鲜为人知的现象是这些标记对基因组完整性具有广泛影响。值得注意的是，表观遗传标记及其建立相关的酶参与维持遗传物质的多个方面。这些方面包括保护核苷酸序列，如重复元件，防止DNA损伤，在DNA修复机制和染色质修复中发挥作用，以及通过影响着丝粒等结构元件来定义染色体组织。本文综述了表观遗传标记的这些功能方面及其对人类健康和疾病的影响。
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