Lewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, New Jersey 08540, USA.
Nature. 2010 Apr 15;464(7291):1039-42. doi: 10.1038/nature08923.
Most heritable traits, including many human diseases, are caused by multiple loci. Studies in both humans and model organisms, such as yeast, have failed to detect a large fraction of the loci that underlie such complex traits. A lack of statistical power to identify multiple loci with small effects is undoubtedly one of the primary reasons for this problem. We have developed a method in yeast that allows the use of much larger sample sizes than previously possible and hence permits the detection of multiple loci with small effects. The method involves generating very large numbers of progeny from a cross between two Saccharomyces cerevisiae strains and then phenotyping and genotyping pools of these offspring. We applied the method to 17 chemical resistance traits and mitochondrial function, and identified loci for each of these phenotypes. We show that the level of genetic complexity underlying these quantitative traits is highly variable, with some traits influenced by one major locus and others by at least 20 loci. Our results provide an empirical demonstration of the genetic complexity of a number of traits and show that it is possible to identify many of the underlying factors using straightforward techniques. Our method should have broad applications in yeast and can be extended to other organisms.
大多数可遗传特征,包括许多人类疾病,都是由多个基因座引起的。人类和模式生物(如酵母)的研究未能检测到许多复杂特征背后的基因座。缺乏识别具有小效应的多个基因座的统计能力无疑是造成这一问题的主要原因之一。我们在酵母中开发了一种方法,该方法允许使用比以往更大的样本量,从而可以检测到具有小效应的多个基因座。该方法涉及从两个酿酒酵母菌株之间的杂交中产生大量后代,然后对这些后代的群体进行表型和基因型分析。我们将该方法应用于 17 种化学抗性性状和线粒体功能,鉴定了每种表型的基因座。我们表明,这些数量性状的遗传复杂性水平差异很大,一些性状受一个主要基因座影响,而其他性状则至少受 20 个基因座影响。我们的结果提供了对一些性状遗传复杂性的实证证明,并表明使用简单的技术可以识别许多潜在的因素。我们的方法应该在酵母中有广泛的应用,并可以扩展到其他生物体。