Estimates of the genomic mutation rate for detrimental alleles in Drosophila melanogaster

Estimates of the genomic mutation rate for detrimental alleles in Drosophila melanogaster
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DOI:
10.1534/genetics.103.025262
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发表时间:
2004-06-01
期刊:
影响因子:
3.3
通讯作者:
Pignatelli, P
Pignatelli, P
中科院分区:
生物学2区
文献类型:
--
作者:
Charlesworth, B;Borthwick, H;Pignatelli, P

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有害但非致命性等位基因的净突变率和这些突变的影响的大小对于许多进化问题具有重要意义。在这里,我们描述了三个重复实验,在这些实验中,通过野生型第三染色体杂合子的单雄回交,在黑腹果蝇的第三染色体上积累了突变。对非致命性纯合子染色体的卵子到成体的存活率进行了检测。估计均值的下降率和方差的增加率(分别为Dm和DV)。根据二倍体全基因组的比例,三个实验中纯合子有害突变的平均DM在0.8%到1.8%之间。相应的DV估计类似于0.11%。总体而言,这些结果表明,有害物种的每基因组二倍体模仿率的下限估计至少为12%。根据所使用的方法,平均选择系数的上限估计在2%到10%之间。选择系数至少为几个百分点的突变肯定是造成这里检测到的影响的主要因素,而且很可能主要是由转座元件插入或插入引起的。
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 tip 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 similar to0.11%. Overall, the results suggest a lower bound estimate of at least 12% for the diploid per genome imitation 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.