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大鼠遗传学的进展与展望:群体观点

Progress and prospects in rat genetics: a community view.

作者信息

Aitman Timothy J, Critser John K, Cuppen Edwin, Dominiczak Anna, Fernandez-Suarez Xose M, Flint Jonathan, Gauguier Dominique, Geurts Aron M, Gould Michael, Harris Peter C, Holmdahl Rikard, Hubner Norbert, Izsvák Zsuzsanna, Jacob Howard J, Kuramoto Takashi, Kwitek Anne E, Marrone Anna, Mashimo Tomoji, Moreno Carol, Mullins John, Mullins Linda, Olsson Tomas, Pravenec Michal, Riley Lela, Saar Kathrin, Serikawa Tadao, Shull James D, Szpirer Claude, Twigger Simon N, Voigt Birger, Worley Kim

机构信息

Medical Research Council Clinical Sciences Centre and Imperial College London, Du Cane Road, London W12 0NN, UK.

出版信息

Nat Genet. 2008 May;40(5):516-22. doi: 10.1038/ng.147.

Abstract

The rat is an important system for modeling human disease. Four years ago, the rich 150-year history of rat research was transformed by the sequencing of the rat genome, ushering in an era of exceptional opportunity for identifying genes and pathways underlying disease phenotypes. Genome-wide association studies in human populations have recently provided a direct approach for finding robust genetic associations in common diseases, but identifying the precise genes and their mechanisms of action remains problematic. In the context of significant progress in rat genomic resources over the past decade, we outline achievements in rat gene discovery to date, show how these findings have been translated to human disease, and document an increasing pace of discovery of new disease genes, pathways and mechanisms. Finally, we present a set of principles that justify continuing and strengthening genetic studies in the rat model, and further development of genomic infrastructure for rat research.

摘要

大鼠是人类疾病建模的重要系统。四年前,大鼠基因组测序改变了长达150年的丰富大鼠研究历史,开启了一个识别疾病表型潜在基因和通路的绝佳机遇时代。人类群体中的全基因组关联研究最近为在常见疾病中寻找可靠的遗传关联提供了一种直接方法,但确定精确的基因及其作用机制仍然存在问题。在过去十年大鼠基因组资源取得重大进展的背景下,我们概述了迄今为止大鼠基因发现的成就,展示了这些发现如何转化为人类疾病研究,并记录了新疾病基因、通路和机制发现速度的不断加快。最后,我们提出了一套原则,证明在大鼠模型中继续并加强遗传学研究以及进一步发展大鼠研究基因组基础设施的合理性。

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