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小鼠印记基因模型的表型结果:印记基因产前和产后功能的阐释

Phenotypic outcomes of imprinted gene models in mice: elucidation of pre- and postnatal functions of imprinted genes.

作者信息

Cleaton Mary A M, Edwards Carol A, Ferguson-Smith Anne C

机构信息

Cambridge Centre for Trophoblast Research and.

出版信息

Annu Rev Genomics Hum Genet. 2014;15:93-126. doi: 10.1146/annurev-genom-091212-153441. Epub 2014 Jun 2.

Abstract

Genomic imprinting is an epigenetic process causing expression of a subset of genes in a parent-of-origin-specific manner. Among vertebrates, only therian mammals have been demonstrated to imprint, indicating that placentation and imprinting arose at similar time points in evolution and that imprinting may be involved in key mammal-specific processes. However, although several theories have been posited to explain the evolution of imprinting, each has shortcomings and none fully explains the wide variety of genes regulated by imprinting. In this review, we catalog the phenotypes associated with genetic mutation and overexpression at particular imprinted loci in order to consider the wide impact of imprinted genes on development. In addition to the well-described roles of imprinted genes in prenatal growth and placentation, more recent data emphasize that imprinted genes are critical for specific aspects of postnatal mammalian development involving adaptive processes, metabolism, and behavior.

摘要

基因组印记是一种表观遗传过程,它导致一部分基因以亲本来源特异性的方式表达。在脊椎动物中,只有有胎盘哺乳动物被证明存在印记现象,这表明胎盘形成和印记在进化过程中出现在相似的时间点,并且印记可能参与了关键的哺乳动物特异性过程。然而,尽管已经提出了几种理论来解释印记的进化,但每种理论都有缺陷,没有一种能完全解释受印记调控的基因的广泛多样性。在这篇综述中,我们梳理了与特定印记位点的基因突变和过表达相关的表型,以便考虑印记基因对发育的广泛影响。除了印记基因在产前生长和胎盘形成中已被充分描述的作用外,最近的数据强调,印记基因对于出生后哺乳动物发育中涉及适应性过程、新陈代谢和行为的特定方面至关重要。

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