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当代基于酵母的人类遗传变异理解方法。

Contemporary, yeast-based approaches to understanding human genetic variation.

机构信息

Department of Genome Sciences, University of Washington, Foege Building, Box 355065, 3720 15th Avenue NE, Seattle, WA 98195-5065, USA.

出版信息

Curr Opin Genet Dev. 2013 Dec;23(6):658-64. doi: 10.1016/j.gde.2013.10.001. Epub 2013 Nov 16.

Abstract

Determining how genetic variation contributes to human health and disease is a critical challenge. As one of the most genetically tractable model organisms, yeast has played a central role in meeting this challenge. The advent of new technologies, including high-throughput DNA sequencing and synthesis, proteomics, and computational methods, has vastly increased the power of yeast-based approaches to determine the consequences of human genetic variation. Recent successes include systematic exploration of the effects of gene dosage, large-scale analysis of the effect of coding variation on gene function, and the use of humanized yeast to model disease. By virtue of its manipulability, small genome size, and genetic tractability, yeast is poised to help us understand human genetic variation.

摘要

确定遗传变异如何影响人类健康和疾病是一个关键的挑战。作为最具遗传可操作性的模式生物之一,酵母在应对这一挑战方面发挥了核心作用。包括高通量 DNA 测序和合成、蛋白质组学和计算方法在内的新技术的出现,极大地提高了基于酵母的方法来确定人类遗传变异后果的能力。最近的成功包括系统地探索基因剂量的影响、大规模分析编码变异对基因功能的影响,以及利用人源化酵母来模拟疾病。由于其可操作性、小基因组大小和遗传可操作性,酵母有望帮助我们理解人类遗传变异。

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