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高且高度可变的溞类自发突变率。

High and Highly Variable Spontaneous Mutation Rates in Daphnia.

机构信息

Department of Biology, Reed College, Portland, OR.

Division of Natural Sciences and Mathematics, Lewis-Clark State College, Lewiston, ID.

出版信息

Mol Biol Evol. 2020 Nov 1;37(11):3258-3266. doi: 10.1093/molbev/msaa142.

DOI:10.1093/molbev/msaa142
PMID:32520985
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7820357/
Abstract

The rate and spectrum of spontaneous mutations are critical parameters in basic and applied biology because they dictate the pace and character of genetic variation introduced into populations, which is a prerequisite for evolution. We use a mutation-accumulation approach to estimate mutation parameters from whole-genome sequence data from multiple genotypes from multiple populations of Daphnia magna, an ecological and evolutionary model system. We report extremely high base substitution mutation rates (µ-n,bs = 8.96 × 10-9/bp/generation [95% CI: 6.66-11.97 × 10-9/bp/generation] in the nuclear genome and µ-m,bs = 8.7 × 10-7/bp/generation [95% CI: 4.40-15.12 × 10-7/bp/generation] in the mtDNA), the highest of any eukaryote examined using this approach. Levels of intraspecific variation based on the range of estimates from the nine genotypes collected from three populations (Finland, Germany, and Israel) span 1 and 3 orders of magnitude, respectively, resulting in up to a ∼300-fold difference in rates among genomic partitions within the same lineage. In contrast, mutation spectra exhibit very consistent patterns across genotypes and populations, suggesting the mechanisms underlying the mutational process may be similar, even when the rates at which they occur differ. We discuss the implications of high levels of intraspecific variation in rates, the importance of estimating gene conversion rates using a mutation-accumulation approach, and the interacting factors influencing the evolution of mutation parameters. Our findings deepen our knowledge about mutation and provide both challenges to and support for current theories aimed at explaining the evolution of the mutation rate, as a trait, across taxa.

摘要

自发突变的速率和频谱是基础和应用生物学的关键参数,因为它们决定了引入种群的遗传变异的速度和特征,这是进化的前提。我们使用突变积累方法,从多个种群的多个 Daphnia magna 基因型的全基因组序列数据中估计突变参数,Daphnia magna 是一个生态和进化模型系统。我们报告了极高的碱基替换突变率(µ-n,bs = 8.96×10-9/bp/代[95%置信区间:6.66-11.97×10-9/bp/代]在核基因组和µ-m,bs = 8.7×10-7/bp/代[95%置信区间:4.40-15.12×10-7/bp/代]在 mtDNA),这是使用这种方法检查的任何真核生物中最高的。基于从三个种群(芬兰、德国和以色列)收集的九个基因型的估计范围,种内变异水平分别跨越 1 到 3 个数量级,导致同一谱系内的基因组分区之间的速率差异高达约 300 倍。相比之下,突变谱在基因型和种群之间表现出非常一致的模式,这表明突变过程的机制可能相似,即使它们发生的速率不同。我们讨论了种内速率变化水平的影响、使用突变积累方法估计基因转换率的重要性以及影响突变参数进化的相互作用因素。我们的发现加深了我们对突变的认识,并为当前旨在解释跨分类群作为特征的突变率进化的理论提供了挑战和支持。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f71c/7820357/b9a56f0ca417/msaa142f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f71c/7820357/313d636c54e8/msaa142f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f71c/7820357/ec8caa3635a1/msaa142f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f71c/7820357/68f0df4e0956/msaa142f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f71c/7820357/b9a56f0ca417/msaa142f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f71c/7820357/313d636c54e8/msaa142f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f71c/7820357/ec8caa3635a1/msaa142f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f71c/7820357/68f0df4e0956/msaa142f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f71c/7820357/b9a56f0ca417/msaa142f4.jpg

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Large, three-generation human families reveal post-zygotic mosaicism and variability in germline mutation accumulation.大型三代同堂的人类家庭揭示了合子后镶嵌现象和生殖系突变积累的可变性。
Elife. 2019 Sep 24;8:e46922. doi: 10.7554/eLife.46922.
3
Gene conversion generates evolutionary novelty that fuels genetic conflicts.基因转换产生了推动遗传冲突的进化新颖性。
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Ecol Evol. 2024 Nov 10;14(11):e70339. doi: 10.1002/ece3.70339. eCollection 2024 Nov.
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High germline mutation rates, but not extreme population outbreaks, influence genetic diversity in a keystone coral predator.高种系突变率,而非极端种群爆发,影响关键珊瑚捕食者的遗传多样性。
PLoS Genet. 2024 Feb 12;20(2):e1011129. doi: 10.1371/journal.pgen.1011129. eCollection 2024 Feb.
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