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Spontaneous Mutation Accumulation in Daphnia pulex in Selection-Free vs. Competitive Environments

机译:无选择与竞争环境中水蚤的自发突变积累

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Understanding the rates, spectra, and fitness effects of spontaneous mutations is fundamental to answering key questions in evolution, molecular biology, disease genetics, and conservation biology. To estimate mutation rates and evaluate the effect of selection on new mutations, we propagated mutation accumulation (MA) lines of Daphnia pulex for more than 82 generations and maintained a non-MA population under conditions where selection could act. Both experiments were started with the same obligate asexual progenitor clone. By sequencing 30 genomes and implementing a series of validation steps that informed the bioinformatic analyses, we identified a total of 477 single nucleotide mutations (SNMs) in the MA lines, corresponding to a mutation rate of 2.30 脳 10鈭? (95 CI 1.90鈥?.70 脳 10鈭?) per nucleotide per generation. The high overall rate of loss of heterozygosity (LOH) of 4.82 脳 10鈭? per site per generation was due to a large ameiotic recombination event spanning an entire arm of a chromosome (鈭?鈥塎b) and several hemizygous deletion events spanning 鈭?鈥塳b each. In the non-MA population, we found significantly fewer mutations than expected based on the rate derived from the MA experiment, indicating purifying selection was likely acting to remove new deleterious mutations. We observed a surprisingly high level of genetic variability in the non-MA population, which we propose to be driven by balancing selection. Our findings suggest that both positive and negative selection on new mutations is powerful and effective in a strictly clonal population.
机译:了解自发突变的速率、光谱和适应度效应对于回答进化、分子生物学、疾病遗传学和保护生物学中的关键问题至关重要。为了估计突变率并评估选择对新突变的影响,我们繁殖了超过 82 代的水蚤突变积累 (MA) 系,并在选择可以起作用的条件下维持非 MA 种群。两个实验都是从相同的专性无性祖细胞克隆开始的。通过对 30 个基因组进行测序并实施一系列验证步骤,为生物信息学分析提供信息,我们在 MA 系中共鉴定出 477 个单核苷酸突变 (SNM),对应突变率为 2.30 脳 10鈭?(95% CI 1.90鈥?.70 脳 10鈭?)每代每个核苷酸。杂合性(LOH)的总体损失率高,为4.82脳10鈭?每代每个位点是由于跨越染色体的整个手臂(鈭?鈥塎b)的大型减数分裂重组事件和跨越鈭?鈥塳b的几个半合子缺失事件。在非MA群体中,我们发现突变明显少于基于MA实验得出的预期的突变,这表明纯化选择可能有助于去除新的有害突变。我们在非MA群体中观察到了令人惊讶的高水平遗传变异性,我们认为这是由平衡选择驱动的。我们的研究结果表明,在严格的克隆群体中,对新突变的阳性和负性选择都是强大而有效的。

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