Cardellino R A, Mukai T
Genetics. 1975 Jul;80(3):567-83. doi: 10.1093/genetics/80.3.567.
In the process of testing whether or not the independent-locus selection model holds true with previously estimated genetic parameters (cf. MUKAI and MARUYAMA 1971) in D. melanogaster collected near Raleigh, North Carolina, we found an abnormal phenomenon: an unusually large increase in dominance variance for viability in comparison with additive variance with the accumulation of mutations on 140 randomyl sampled, inversion-free second chromosomes. Mutations were accumulated only through males heterozygous for the Pm-carrying chromosome [In(2LR)bwV1] and the extracted second chromosomes, and the genetic variance components were estimated by using a partial diallel cross method.--Further investigations clarified that chromosome abberations occurred at a frequency of 0.0114 per second chromosome per generation (inversions: 0.0098; transpositions: 0.0011; translocation: 0.0004), and recessive lethal mutations occurred at an average rate of 0.031 per second chromosome per generation.--From these results and from the amount of change in the homozygous load, it was speculated that about 60--70% of the second chromosomes used had a kind of mutator which induced chromosome and/or chromatid breaks at a minimum rate of 0.18 per second chromosome per generation. These breaks resulted in recessive lethal mutations at a rate more than ten times higher than the normal rate. Also these breaks were most probably the cause of male recombination.--The above unusual increase in dominance variance can be explained by assuming that chromosome segments, introduced into the extracted "wild" chromosomes by male recombinations (double crossover) from the marker chromosomes [In(2LR)bwV1], showed heterosis and linkage disequilibria with deleterious mutations and possibly with other introduced segments.--Finally, the nature and possible significance of mutator factors are discussed.
在检验独立位点选择模型是否适用于先前估计的北卡罗来纳州罗利附近采集的黑腹果蝇遗传参数(参见MUKAI和MARUYAMA,1971)的过程中,我们发现了一种异常现象:在140条随机抽样的、无倒位的第二染色体上,随着突变的积累,与加性方差相比,活力的显性方差异常大幅增加。突变仅通过携带Pm染色体[In(2LR)bwV1]的雄性杂合子和提取的第二染色体积累,遗传方差成分采用部分双列杂交法估计。——进一步研究表明,染色体畸变以每条第二染色体每代0.0114的频率发生(倒位:0.0098;转座:0.0011;易位:0.0004),隐性致死突变以每条第二染色体每代平均0.031的速率发生。——根据这些结果以及纯合负荷的变化量推测,大约60%-70%使用的第二染色体有一种突变体,它以每条第二染色体每代至少0.18的速率诱导染色体和/或染色单体断裂。这些断裂导致隐性致死突变的速率比正常速率高十多倍。而且这些断裂很可能是雄性重组的原因。——上述显性方差的异常增加可以通过假设来解释,即通过雄性重组(双交换)从标记染色体[In(2LR)bwV1]引入到提取的“野生”染色体中的染色体片段表现出杂种优势,并与有害突变以及可能与其他引入的片段存在连锁不平衡。——最后,讨论了突变体因子的性质和可能的意义。