Elhamamsy Amr Rafat
Department of Clinical Pharmacy, School of Pharmacy, Tanta University, Tanta, 31512, Gharbia, Egypt.
J Assist Reprod Genet. 2017 May;34(5):549-562. doi: 10.1007/s10815-017-0895-5. Epub 2017 Mar 9.
Genomic imprinting is a complex epigenetic process that contributes substantially to embryogenesis, reproduction, and gametogenesis. Only small fraction of genes within the whole genome undergoes imprinting. Imprinted genes are expressed in a monoallelic parent-of-origin-specific manner, which means that only one of the two inherited alleles is expressed either from the paternal or maternal side. Imprinted genes are typically arranged in clusters controlled by differentially methylated regions or imprinting control regions. Any defect or relaxation in imprinting process can cause loss of imprinting in the key imprinted loci. Loss of imprinting in most cases has a harmful effect on fetal development and can result in neurological, developmental, and metabolic disorders. Since DNA methylation and histone modifications play a key role in the process of imprinting. This review focuses on the role of DNA methylation in imprinting process and describes DNA methylation aberrations in different imprinting disorders.
基因组印记是一个复杂的表观遗传过程，对胚胎发生、生殖和配子发生有重要贡献。全基因组中只有一小部分基因会发生印记。印记基因以单等位基因亲本来源特异性的方式表达，这意味着两个遗传等位基因中只有一个从父方或母方表达。印记基因通常排列成簇，由差异甲基化区域或印记控制区域控制。印记过程中的任何缺陷或松弛都可能导致关键印记位点的印记丢失。大多数情况下，印记丢失对胎儿发育有有害影响，并可能导致神经、发育和代谢紊乱。由于DNA甲基化和组蛋白修饰在印记过程中起关键作用。本综述重点关注DNA甲基化在印记过程中的作用，并描述不同印记障碍中的DNA甲基化异常。
