Charlesworth Brian, Borthwick Helen, Bartolomé Carolina, Pignatelli Patricia
Institute of Cell, Animal and Population Biology, School of Biological Sciences, University of Edinburgh, Edinburgh EH9 3JT, United Kingdom.
Genetics. 2004 Jun;167(2):815-26. doi: 10.1534/genetics.103.025262.
The net rate of mutation to deleterious but nonlethal alleles and the sizes of effects of these mutations are of great significance for many evolutionary questions. Here we describe three replicate experiments in which mutations have been accumulated on chromosome 3 of Drosophila melanogaster by means of single-male backcrosses of heterozygotes for a wild-type third chromosome. Egg-to-adult viability was assayed for nonlethal homozygous chromosomes. The rates of decline in mean and increase in variance (DM and DV, respectively) were estimated. Scaled up to the diploid whole genome, the mean DM for homozygous detrimental mutations over the three experiments was between 0.8 and 1.8%. The corresponding DV estimate was approximately 0.11%. Overall, the results suggest a lower bound estimate of at least 12% for the diploid per genome mutation rate for detrimentals. The upper bound estimates for the mean selection coefficient were between 2 and 10%, depending on the method used. Mutations with selection coefficients of at least a few percent must be the major contributors to the effects detected here and are likely to be caused mostly by transposable element insertions or indels.
有害但非致死等位基因的净突变率以及这些突变的效应大小对于许多进化问题具有重要意义。在此,我们描述了三个重复实验,其中通过野生型第三染色体杂合子的单雄回交,在黑腹果蝇的第三号染色体上积累了突变。对非致死纯合染色体测定了卵到成虫的存活率。估计了均值下降率和方差增加率(分别为DM和DV)。按比例放大到二倍体全基因组,三个实验中纯合有害突变的平均DM在0.8%至1.8%之间。相应的DV估计约为0.11%。总体而言,结果表明二倍体全基因组有害突变率的下限估计至少为12%。平均选择系数的上限估计在2%至10%之间,具体取决于所使用的方法。选择系数至少为百分之几的突变必定是此处检测到的效应的主要贡献者,并且很可能主要由转座元件插入或插入缺失引起。