The repeatability of genome-wide mutation rate and spectrum estimates.
The repeatability of genome-wide mutation rate and spectrum estimates.
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DOI：
10.1007/s00294-016-0573-7
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发表时间：
2016-08
期刊：
影响因子：
2.5
通讯作者：
Hall DW
中科院分区：
文献类型：
--
作者：
Behringer MG;Hall DW
在过去的十年中，由于全基因组测序的可负担性和可获得性，突变研究越来越受欢迎。由于在生命的两个领域中，直接估计自发突变的物种数量接近20个，因此对此类实验结果的可重复性产生了疑问。已经确定了五个物种，其中进行了重复突变研究。在这些研究中，估计的自发突变率的差异最多是弱显著的（p < 0.01）。然而，在最近的两项关于pombe Schizosaccharomyces的研究中，插入/缺失率（indels）存在高度显著（p < 10−5）的3倍差异。在对两项研究的祖先基因组序列进行调查后，发现了一个可能的抗突变等位基因。观察到的indel率的变化可能意味着，使用indel标记（如微卫星）来调查种群内部和种群之间的遗传多样性可能是不合适的，因为假设一个物种内的突变率是一致的。
Over the last decade, mutation studies have grown in popularity due to the affordability and accessibility of whole-genome sequencing. As the number of species in which spontaneous mutation has been directly estimated approaches 20 across two domains of life, questions arise over the repeatability of results in such experiments. Five species were identified in which duplicate mutation studies have been performed. Across these studies the difference in estimated spontaneous mutation rate is at most, weakly significant (p < 0.01). However, a highly significant (p < 10−5), three-fold difference in the rate of insertions / deletions (indels) exists between two recent studies in Schizosaccharomyces pombe. Upon investigation of the ancestral genome sequence for both studies, a possible anti-mutator allele was identified. The observed variation in indel rate may imply that the use of indel markers, such as microsatellites, for the investigation of genetic diversity within and among populations may be inappropriate because of the assumption of uniform mutation rate within a species.