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利用遗传基因组学阐明顺式和反式调控变异

Elucidating cis- and trans-regulatory variation using genetical genomics.

作者信息

Sladek Robert, Hudson Thomas J

机构信息

McGill University and Genome Quebec Innovation Centre, 740 Ave Dr. Penfield, Montreal, Quebec, Canada, H3A 1A4.

出版信息

Trends Genet. 2006 May;22(5):245-50. doi: 10.1016/j.tig.2006.03.001. Epub 2006 Mar 27.

DOI:10.1016/j.tig.2006.03.001
PMID:16564600
Abstract

Genetic variation, through its effects on gene regulatory networks, has an important role in determining biologic phenotypes and disease susceptibility. Recent studies using segregating populations have characterized variation in gene expression resulting from genetic differences and have used well-established assays to identify many cis-acting polymorphisms. Although trans effects have been shown to be globally important, their individual effects are small, such that their genome-wide identification remains a challenge. Two recent studies using approaches capitalizing on intercrossed mouse strains and novel computational methods have yielded examples of trans-regulatory networks.

摘要

遗传变异通过对基因调控网络的影响,在决定生物学表型和疾病易感性方面发挥着重要作用。最近利用分离群体进行的研究已经描述了由遗传差异导致的基因表达变异,并使用成熟的检测方法鉴定了许多顺式作用多态性。尽管已表明反式作用在整体上很重要,但其个体效应较小,因此在全基因组范围内对其进行鉴定仍然是一项挑战。最近两项利用杂交小鼠品系和新型计算方法的研究得出了反式调控网络的实例。

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