基因组印记：机制及其在人类病理学中的作用。
Genomic imprinting: mechanism and role in human pathology.
作者信息
Tycko B
机构信息
Department of Pathology, Columbia University College of Physicians and Surgeons, New York, New York 10032.
出版信息
Am J Pathol. 1994 Mar;144(3):431-43.
Abstract
Most genes are expressed from two alleles, one maternal and the other paternal. The term "genomic imprinting" refers to a genetic phenomenon which produces some interesting exceptions to this rule. Genes which are subject to imprinting are molecularly marked before fertilization such that they are transcriptionally silenced at one of the parental alleles in the offspring. A growing body of evidence implicates genomic imprinting in the pathogenesis of certain human genetic diseases, inherited tumor syndromes, and sporadic tumors. This review discusses examples of imprinting, theories as to why the phenomenon exists, possible molecular mechanisms of imprinting, and our current understanding of the role of imprinting in human pathology.
摘要
大多数基因由两个等位基因表达，一个来自母本，另一个来自父本。“基因组印记”一词指的是一种遗传现象，它为此规则产生了一些有趣的例外情况。受印记影响的基因在受精前会进行分子标记，从而使其在后代的一个亲本等位基因上发生转录沉默。越来越多的证据表明基因组印记与某些人类遗传疾病、遗传性肿瘤综合征和散发性肿瘤的发病机制有关。本综述讨论了印记的例子、该现象存在原因的理论、印记可能的分子机制，以及我们目前对印记在人类病理学中作用的理解。
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本文引用的文献
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