Bartolomei Marisa S
Department of Cell and Developmental Biology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.
Genes Dev. 2009 Sep 15;23(18):2124-33. doi: 10.1101/gad.1841409.
Genomic imprinting refers to an epigenetic mark that distinguishes parental alleles and results in a monoallelic, parental-specific expression pattern in mammals. Few phenomena in nature depend more on epigenetic mechanisms while at the same time evading them. The alleles of imprinted genes are marked epigenetically at discrete elements termed imprinting control regions (ICRs) with their parental origin in gametes through the use of DNA methylation, at the very least. Imprinted gene expression is subsequently maintained using noncoding RNAs, histone modifications, insulators, and higher-order chromatin structure. Avoidance is manifest when imprinted genes evade the genome-wide reprogramming that occurs after fertilization and remain marked with their parental origin. This review summarizes what is known about the establishment and maintenance of imprinting marks and discusses the mechanisms of imprinting in clusters. Additionally, the evolution of imprinted gene clusters is described. While considerable information regarding epigenetic control of imprinting has been obtained recently, much remains to be learned.
基因组印记是一种表观遗传标记,它能区分亲本等位基因,并在哺乳动物中导致单等位基因、亲本特异性的表达模式。自然界中很少有现象比它更依赖表观遗传机制,同时又能避开这些机制。印记基因的等位基因至少通过DNA甲基化,在配子中其亲代来源的离散元件(称为印记控制区域,ICRs)上进行表观遗传标记。随后,通过非编码RNA、组蛋白修饰、绝缘子和高阶染色质结构来维持印记基因的表达。当印记基因避开受精后发生的全基因组重编程,并保持其亲代来源的标记时,就表现出了这种避开现象。这篇综述总结了关于印记标记建立和维持的已知信息,并讨论了印记基因簇中的印记机制。此外,还描述了印记基因簇的进化。虽然最近已经获得了大量关于印记表观遗传控制的信息,但仍有许多有待了解。