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从漂变到趋同:有益突变对 Ohta 的分子进化略有有害模型预测的实际贡献有多大?

From Drift to Draft: How Much Do Beneficial Mutations Actually Contribute to Predictions of Ohta's Slightly Deleterious Model of Molecular Evolution?

机构信息

College of Life Sciences, Zhejiang University, Hangzhou, Zhejiang 310058, China.

Program in Plant Ecology and Evolution, Department of Ecology and Genetics, Evolutionary Biology Centre, Uppsala University, 75236 Uppsala, Sweden.

出版信息

Genetics. 2020 Apr;214(4):1005-1018. doi: 10.1534/genetics.119.302869. Epub 2020 Feb 3.

Abstract

Since its inception in 1973, the slightly deleterious model of molecular evolution, also known as the nearly neutral theory of molecular evolution, remains a central model to explain the main patterns of DNA polymorphism in natural populations. This is not to say that the quantitative fit to data are perfect. A recent study used polymorphism data from to test whether, as predicted by the nearly neutral theory, the proportion of effectively neutral mutations depends on the effective population size ( ). It showed that a nearly neutral model simply scaling with variation across the genome could not alone explain the data, but that consideration of linked positive selection improves the fit between observations and predictions. In the present article, we extended the work in two main directions. First, we confirmed the observed pattern on a set of 59 species, including high-quality genomic data from 11 animal and plant species with different mating systems and effective population sizes, hence different levels of linked selection. Second, for the 11 species with high-quality genomic data we also estimated the full distribution of fitness effects (DFE) of mutations, and not solely the DFE of deleterious mutations. Both and beneficial mutations contributed to the relationship between the proportion of effectively neutral mutations and local across the genome. In conclusion, the predictions of the slightly deleterious model of molecular evolution hold well for species with small , but for species with large , the fit is improved by incorporating linked positive selection to the model.

摘要

自 1973 年成立以来,略有有害的分子进化模型,也称为分子进化近中性理论,仍然是解释自然种群中 DNA 多态性主要模式的核心模型。这并不是说对数据的定量拟合是完美的。最近的一项研究使用了来自的多态性数据来检验近中性理论是否预测,有效中性突变的比例是否取决于有效种群大小()。结果表明,一个简单地与基因组范围内的变化相缩放的近中性模型不能单独解释数据,但考虑到连锁正选择可以改善观察结果与预测之间的拟合度。在本文中,我们从两个主要方向扩展了这项工作。首先,我们在一组 59 个物种上证实了观察到的模式,其中包括 11 种具有不同交配系统和有效种群大小的动植物物种的高质量基因组数据,因此具有不同程度的连锁选择。其次,对于具有高质量基因组数据的 11 个物种,我们还估计了突变的全部适应度效应(DFE)分布,而不仅仅是有害突变的 DFE。和有益突变都有助于有效地中性突变比例与基因组局部之间的关系。总之,分子进化的略有有害模型的预测对于有效种群较小的物种适用良好,但对于有效种群较大的物种,通过将连锁正选择纳入模型,可以提高拟合度。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/50b4/7153929/e47b5e37b0c3/1005f1.jpg

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