Keightley P D, Ohnishi O
Institute of Cell, Animal and Population Biology, University of Edinburgh, Scotland.
Genetics. 1998 Feb;148(2):753-66. doi: 10.1093/genetics/148.2.753.
Polygenic mutations were induced by treating Drosophila melanogaster adult males with 2.5 mM EMS. The treated second chromosomes, along with untreated controls, were then made homozygous, and five life history, two behavioral, and two morphological traits were measured. EMS mutagenesis led to reduced performance for life history traits. Changes in means and increments in genetic variance were relatively much higher for life history than for morphological traits, implying large differences in mutational target size. Maximum likelihood was used to estimate mutation rates and parameters of distributions of mutation effects, but parameters were strongly confounded with one another. Several traits showed evidence of leptokurtic distributions of effects and mean effects smaller than a few percent of trait means. Distributions of effects for all traits were strongly asymmetrical, and most mutations were deleterious. Correlations between life history mutation effects were positive. Mutation parameters for one generation of spontaneous mutation were predicted by scaling parameter estimates from the EMS experiment, extrapolated to the whole genome. Predicted mutational coefficients of variation were in good agreement with published estimates. Predicted changes in means were up to 0.14% or 0.6% for life history traits, depending on the model of scaling assumed.
通过用2.5 mM EMS处理黑腹果蝇成年雄性来诱导多基因座突变。然后将处理过的第二条染色体与未处理的对照进行纯合,并测量五个生活史、两个行为和两个形态特征。EMS诱变导致生活史特征的表现降低。生活史特征的均值变化和遗传方差增加相对于形态特征而言要高得多,这意味着突变目标大小存在很大差异。使用最大似然法估计突变率和突变效应分布的参数,但这些参数相互之间存在强烈的混淆。几个特征显示出效应的尖峰分布证据,且平均效应小于特征均值的百分之几。所有特征的效应分布都强烈不对称,并且大多数突变是有害的。生活史突变效应之间的相关性为正。通过对EMS实验的参数估计进行缩放,外推到整个基因组,预测了一代自发突变的突变参数。预测的突变变异系数与已发表的估计值高度一致。根据假设的缩放模型,生活史特征的预测均值变化高达0.14%或0.6%。