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基因组印记:两性差异甲基化的影响。

Genomic imprinting: the influence of differential methylation in the two sexes.

机构信息

Biological Targets Inc, PO Box 1529, Pilot Point, TX 76258, USA.

出版信息

Exp Biol Med (Maywood). 2010 Feb;235(2):139-47. doi: 10.1258/ebm.2009.009251.

Abstract

Genomic imprinting is an epigenetic form of gene regulation that entails differential sex-specific methylation of the alleles of a gene. Such methylation distinguishes male and female genomes and is inherited in a parent-of-origin-specific manner. Sex-specific imprints are established in the germline during gametogenesis and remain intact throughout embryonic and postnatal development. Reprogramming of methylation patterns in gametes is essential to sex-specific inheritance of imprinted genes and assures exclusive harboring of female- and male-specific imprinted patterns in maternal and paternal gametes, respectively. The consequences of genomic imprinting are manifested by its loss, which can lead to a variety of disorders, the most prominent ones being Prader-Willi and Angelman syndromes. Although a great deal of research has been carried out to examine various imprinting mechanisms, little is known about the establishment and regulation of imprinted genes. In the present paper, we describe several epigenetic mechanisms that have relevance in imprinting and that may have impact on embryonic development, fetal growth and animal cloning.

摘要

基因组印记是一种基因调控的表观遗传形式,涉及到基因等位基因的性别特异性甲基化。这种甲基化区分了雄性和雌性基因组,并以亲本来源特异性的方式遗传。性别特异性印记在配子发生过程中在生殖细胞中建立,并在胚胎和出生后发育过程中保持完整。配子中甲基化模式的重编程对于印记基因的性别特异性遗传至关重要,并确保雌性和雄性特异性印记模式分别仅存在于母本和父本配子中。基因组印记的后果表现为其丢失,这可能导致多种疾病,其中最突出的是普拉德-威利和安格曼综合征。尽管已经进行了大量研究来检查各种印记机制,但对于印记基因的建立和调控知之甚少。在本文中,我们描述了几种与印记相关的表观遗传机制,这些机制可能对胚胎发育、胎儿生长和动物克隆有影响。

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