Comparative genetic analysis: the utility of mouse genetic systems for studying human monogenic disease.
Comparative genetic analysis: the utility of mouse genetic systems for studying human monogenic disease.
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比较遗传分析：利用小鼠遗传系统研究人类单基因疾病。
DOI：
10.1007/s00335-007-9014-8
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发表时间：
2007-07
期刊：
影响因子：
2.5
通讯作者：
Davies, Kay E.
中科院分区：
文献类型：
--
作者：
Oliver, Peter L.;Bitoun, Enunanuelle;Davies, Kay E.
小鼠诱变项目的长期目标之一是产生突变株系，以促进每个哺乳动物基因的功能研究。随着互补遗传方法和技术进步的结合，这一目标正在慢慢成为现实。该策略最重要的特征之一是能够识别和比较同一基因（等位基因系列）中的许多突变。随着基因驱动的突变体档案筛选的出现，寻找一个特定的系列感兴趣的现在是一个实际的选择。这篇综述着重于分析多种基因的化学诱变项目中的多个突变，以及从这些研究中获得的有价值的功能信息。虽然基因敲除和转基因将继续是确定基因功能的重要资源，但由于点突变引起的人类疾病占很大比例，因此鉴定等位基因系列正成为产生临床相关和功能重要的小鼠模型的同样有效的途径。
One of the long-term goals of mutagenesis programs in the mouse has been to generate mutant lines to facilitate the functional study of every mammalian gene. With a combination of complementary genetic approaches and advances in technology, this aim is slowly becoming a reality. One of the most important features of this strategy is the ability to identify and compare a number of mutations in the same gene, an allelic series. With the advent of gene-driven screening of mutant archives, the search for a specific series of interest is now a practical option. This review focuses on the analysis of multiple mutations from chemical mutagenesis projects in a wide variety of genes and the valuable functional information that has been obtained from these studies. Although gene knockouts and transgenics will continue to be an important resource to ascertain gene function, with a significant proportion of human diseases caused by point mutations, identifying an allelic series is becoming an equally efficient route to generating clinically relevant and functionally important mouse models.
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