Institute of Evolutionary Biology, School of Biological Sciences, University of Edinburgh, Edinburgh EH9 3JT, United Kingdom.
Genetics. 2010 Dec;186(4):1411-24. doi: 10.1534/genetics.110.122150. Epub 2010 Oct 5.
We explore the effects of demography and linkage on a maximum-likelihood (ML) method for estimating selection and mutation parameters in a reversible mutation model. This method assumes free recombination between sites and a randomly mating population of constant size and uses information from both polymorphic and monomorphic sites in the sample. Two likelihood-ratio test statistics were constructed under this ML framework: LRTγ for detecting selection and LRTκ for detecting mutational bias. By carrying out extensive simulations, we obtain the following results. When mutations are neutral and population size is constant, LRTγ and LRTκ follow a chi-square distribution with 1 d.f. regardless of the level of linkage, as long as the mutation rate is not very high. In addition, LRTγ and LRTκ are relatively insensitive to demographic effects and selection at linked sites. We find that the ML estimators of the selection and mutation parameters are usually approximately unbiased and that LRTκ usually has good power to detect mutational bias. Finally, with a recombination rate that is typical for Drosophila, LRTγ has good power to detect weak selection acting on synonymous sites. These results suggest that the method should be useful under many different circumstances.
我们探讨了人口统计学和连锁效应对最大似然(ML)方法估计可逆突变模型中选择和突变参数的影响。该方法假设在随机交配的固定大小的群体中,位点之间自由重组,并利用样本中多态和单态位点的信息。在这个 ML 框架下构建了两个似然比检验统计量:LRTγ用于检测选择,LRTκ用于检测突变偏倚。通过进行广泛的模拟,我们得到了以下结果。当突变是中性的且种群大小不变时,只要突变率不是很高,LRTγ和 LRTκ 就会遵循自由度为 1 的卡方分布,无论连锁程度如何。此外,LRTγ 和 LRTκ 对连锁位点的人口统计学效应和选择相对不敏感。我们发现,选择和突变参数的 ML 估计值通常是近似无偏的,并且 LRTκ 通常具有检测突变偏倚的良好功效。最后,在典型的果蝇重组率下,LRTγ 具有检测作用于同义位点的弱选择的良好功效。这些结果表明,该方法在许多不同情况下都应该是有用的。