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印记进化与人类健康。

Imprinting evolution and human health.

机构信息

Department of Radiation Oncology, Duke University Medical Center, Durham, NC 27710, USA.

出版信息

Mamm Genome. 2009 Sep-Oct;20(9-10):563-72. doi: 10.1007/s00335-009-9229-y. Epub 2009 Oct 15.

Abstract

Genomic imprinting results in parent-of-origin-dependent, monoallelic expression of genes. The functional haploid state of these genes has far-reaching consequences. Not only has imprinting been implicated in accelerating mammalian speciation, there is growing evidence that it is also involved in the pathogenesis of several human conditions, particularly cancer and neurological disorders. Epigenetic regulatory mechanisms govern the parental allele-specific silencing of imprinted genes, and many theories have attempted to explain the driving force for the evolution of this unique form of gene control. This review discusses the evolution of imprinting in Therian mammals, and the importance of imprinted genes in human health and disease.

摘要

基因组印记导致基因的亲本来源依赖性、单等位基因表达。这些基因的功能单倍体状态产生了深远的影响。印记不仅被认为在加速哺乳动物的物种形成中起作用,而且越来越多的证据表明它也参与了几种人类疾病的发病机制,特别是癌症和神经紊乱。表观遗传调控机制控制印迹基因的亲本等位基因特异性沉默,许多理论试图解释这种独特形式的基因控制进化的驱动力。本综述讨论了真兽类哺乳动物中印记的进化,以及印迹基因在人类健康和疾病中的重要性。

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