A genome-wide view of the spectrum of spontaneous mutations in yeast
A genome-wide view of the spectrum of spontaneous mutations in yeast
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DOI：
10.1073/pnas.0803466105
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发表时间：
2008-07-08
影响因子：
11.1
通讯作者：
Thomas, W. Kelley
中科院分区：
文献类型：
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作者：
Lynch, Michael;Sung, Way;Thomas, W. Kelley
突变过程最终定义了所有人群的遗传特征，因此，它与涉及进化遗传学、遗传和遗传疾病（包括癌症易感性）的广泛问题有关。然而，巨大的技术障碍限制了我们对突变发生率及其影响的分子谱的理解。在这里，我们报告的使用全基因组测序在表征自发产生的突变的酵母酿酒酵母。我们的研究结果证实了以前通过间接方法获得的一些结果，但也产生了许多意想不到的结果，特别是一个非常高的点突变率和偏态分布的碱基替换类型的nucleon，一个非常高的比率的核基因组中的节段性重复和缺失，以及各种模式生物之间的突变谱的实质性偏差。
The mutation process ultimately defines the genetic features of all populations and, hence, has a bearing on a wide range of issues involving evolutionary genetics, inheritance, and genetic disorders, including the predisposition to cancer. Nevertheless, formidable technical barriers have constrained our understanding of the rate at which mutations arise and the molecular spectrum of their effects. Here, we report on the use of complete-genome sequencing in the characterization of spontaneously arising mutations in the yeast Saccharomyces cerevisiae. Our results confirm some findings previously obtained by indirect methods but also yield numerous unexpected findings, in particular a very high rate of point mutation and skewed distribution of base-substitution types in the mitochondrion, a very high rate of segmental duplication and deletion in the nuclear genome, and substantial deviations in the mutational profile among various model organisms.