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在富含序列重复的基因组中,碱基替换突变率低但滑链突变率高。

Low Base-Substitution Mutation Rate but High Rate of Slippage Mutations in the Sequence Repeat-Rich Genome of .

作者信息

Kucukyildirim Sibel, Behringer Megan, Sung Way, Brock Debra A, Doak Thomas G, Mergen Hatice, Queller David C, Strassmann Joan E, Lynch Michael

机构信息

Department of Biology, Indiana University, Bloomington, IN 47405

Department of Biology, Hacettepe University, Ankara 06800 TURKEY.

出版信息

G3 (Bethesda). 2020 Sep 2;10(9):3445-3452. doi: 10.1534/g3.120.401578.

Abstract

We describe the rate and spectrum of spontaneous mutations for the social amoeba , a key model organism in molecular, cellular, evolutionary and developmental biology. Whole-genome sequencing of 37 mutation accumulation lines of after an average of 1,500 cell divisions yields a base-substitution mutation rate of 2.47 × 10 per site per generation, substantially lower than that of most eukaryotic and prokaryotic organisms, and of the same order of magnitude as in the ciliates and Known for its high genomic AT content and abundance of simple sequence repeats, we observe that base-substitution mutations in are highly A/T biased. This bias likely contributes both to the high genomic AT content and to the formation of simple sequence repeats in the AT-rich genome of In contrast to the situation in other surveyed unicellular eukaryotes, indel rates far exceed the base-substitution mutation rate in this organism with a high proportion of 3n indels, particularly in regions without simple sequence repeats. Like ciliates, has a large effective population size, reducing the power of random genetic drift, magnifying the effect of selection on replication fidelity, in principle allowing to evolve an extremely low base-substitution mutation rate.

摘要

我们描述了社会性变形虫(一种在分子、细胞、进化和发育生物学中具有关键作用的模式生物)的自发突变率和突变谱。对平均经历了1500次细胞分裂后的37个突变积累系进行全基因组测序,得出每个位点每代的碱基替换突变率为2.47×10,显著低于大多数真核生物和原核生物,与纤毛虫的突变率处于同一数量级。由于其基因组中AT含量高且简单序列重复丰富,我们观察到社会性变形虫中的碱基替换突变具有高度的A/T偏向性。这种偏向性可能既导致了基因组中高AT含量,也促成了富含AT的基因组中简单序列重复的形成。与其他被调查的单细胞真核生物的情况不同,在这种生物中,插入缺失率远超过碱基替换突变率,其中3n插入缺失的比例很高,特别是在没有简单序列重复的区域。与纤毛虫一样,社会性变形虫具有较大的有效种群大小,降低了随机遗传漂变的影响,放大了选择对复制保真度的作用,原则上使社会性变形虫能够进化出极低的碱基替换突变率。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/43b8/7466956/9290fba07e7a/3445f1.jpg

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