Department of Biology and Biochemistry, University of Houston, Houston, Texas 77204-5001.
Genetics. 2013 Oct;195(2):527-40. doi: 10.1534/genetics.113.153536. Epub 2013 Aug 9.
Knowledge of the rate and fitness effects of mutations is essential for understanding the process of evolution. Mutations are inherently difficult to study because they are rare and are frequently eliminated by natural selection. In the ciliate Tetrahymena thermophila, mutations can accumulate in the germline genome without being exposed to selection. We have conducted a mutation accumulation (MA) experiment in this species. Assuming that all mutations are deleterious and have the same effect, we estimate that the deleterious mutation rate per haploid germline genome per generation is U=0.0047 (95% credible interval: 0.0015, 0.0125), and that germline mutations decrease fitness by s=11% when expressed in a homozygous state (95% CI: 4.4%, 27%). We also estimate that deleterious mutations are partially recessive on average (h=0.26; 95% CI: -0.022, 0.62) and that the rate of lethal mutations is <10% of the deleterious mutation rate. Comparisons between the observed evolutionary responses in the germline and somatic genomes and the results from individual-based simulations of MA suggest that the two genomes have similar mutational parameters. These are the first estimates of the deleterious mutation rate and fitness effects from the eukaryotic supergroup Chromalveolata and are within the range of those of other eukaryotes.
突变率和适应度效应的知识对于理解进化过程至关重要。由于突变是罕见的,并且经常被自然选择所淘汰,因此它们很难进行研究。在纤毛虫 Tetrahymena thermophila 中,突变可以在不暴露于选择的情况下积累在生殖系基因组中。我们在这个物种中进行了突变积累(MA)实验。假设所有突变都是有害的,并且具有相同的影响,我们估计每个单倍体生殖系基因组每代的有害突变率为 U=0.0047(95%置信区间:0.0015,0.0125),并且生殖系突变以纯合状态表达时降低适应性 s=11%(95%置信区间:4.4%,27%)。我们还估计有害突变平均部分为隐性(h=0.26;95%置信区间:-0.022,0.62),致死突变率<有害突变率的 10%。生殖系和体细胞基因组中观察到的进化反应与 MA 的个体模拟结果之间的比较表明,这两个基因组具有相似的突变参数。这些是真核超群 Chromalveolata 中有害突变率和适应度效应的首次估计值,并且在其他真核生物的范围内。