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Direct estimation of the spontaneous mutation rate by short‐term mutation accumulation lines in Chironomus riparius

机译:利用短纹夜蛾的短期突变积累系直接估算自发突变率

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Abstract Mutations are the ultimate basis of evolution, yet their occurrence rate is known only for few species. We directly estimated the spontaneous mutation rate and the mutational spectrum in the nonbiting midge C. riparius with a new approach. Individuals from ten mutation accumulation lines over five generations were deep genome sequenced to count de novo mutations that were not present in a pool of F1 individuals, representing parental genotypes. We identified 51 new single site mutations of which 25 were insertions or deletions and 26 single nucleotide mutations. This shift in the mutational spectrum compared to other organisms was explained by the high A/T content of the species. We estimated a haploid mutation rate of 2.1 × 10?9 (95% confidence interval: 1.4 × 10?9 – 3.1 × 10-9) that is in the range of recent estimates for other insects and supports the drift barrier hypothesis. We show that accurate mutation rate estimation from a high number of observed mutations is feasible with moderate effort even for nonmodel species.
机译:摘要突变是进化的最终基础,但突变的发生率仅少数物种已知。我们用一种新的方法直接估计了无咬mid的河豚弧菌的自发突变率和突变谱。对来自五代人的十个突变积累系的个体进行了深度基因组测序,以计算代表父母基因型的F1个体库中不存在的从头突变。我们确定了51个新的单点突变,其中25个是插入或缺失和26个单核苷酸突变。与其他生物相比,突变谱的这种变化是由于该物种的高A / T含量所致。我们估计单倍体突变率为2.1×10 ?9 (95%置信区间:1.4×10 ?9 – 3.1×10 -9 )在其他昆虫的最新估计范围内,并支持漂移障碍假说。我们表明,即使对于非模型物种,也可以通过适度的努力从大量观察到的突变中进行准确的突变率估算。

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