The rate and molecular spectrum of spontaneous mutations in Arabidopsis thaliana.

The rate and molecular spectrum of spontaneous mutations in Arabidopsis thaliana.
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DOI:
10.1126/science.1180677
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发表时间:
2010-01-01
期刊:
Science (New York, N.Y.)
影响因子:
--
通讯作者:
Lynch M
Lynch M
中科院分区:
其他
文献类型:
--
作者:
Ossowski S;Schneeberger K;Lucas-Lledó JI;Warthmann N;Clark RM;Shaw RG;Weigel D;Lynch M

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为了充分利用物种内多态性和近亲分歧的信息,人们需要知道自发突变的速率和分子谱。为此,我们已经寻找从头自发突变的完整的核基因组中的5个拟南芥突变积累线,已保持了30代单种子后裔。我们确定并验证了99个碱基替换和17个小的和大的插入和缺失。我们的结果意味着每一代每个位点的自发突变率为7 × 10−9个碱基替换,其中大部分是G:C→A:T转换。我们解释这是非常有偏见的光谱的碱基置换突变作为两个主要过程的结果:甲基化胞嘧啶脱氨基和紫外线诱导的诱变。
To take complete advantage of information on within-species polymorphism and divergence from close relatives, one needs to know the rate and the molecular spectrum of spontaneous mutations. To this end, we have searched for de novo spontaneous mutations in the complete nuclear genomes of five Arabidopsis thaliana mutation accumulation lines that had been maintained by single-seed descent for 30 generations. We identified and validated 99 base substitutions and 17 small and large insertions and deletions. Our results imply a spontaneous mutation rate of 7 × 10−9 base substitutions per site per generation, the majority of which are G:C→A:T transitions. We explain this very biased spectrum of base substitution mutations as a result of two main processes: deamination of methylated cytosines and ultraviolet light–induced mutagenesis.
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