Ohnishi O
Genetics. 1977 Nov;87(3):529-45. doi: 10.1093/genetics/87.3.529.
Polygenic mutations affecting viability were accumulated on the second chromosome of Drosophila melanogaster by treating flies with EMS in successive generations. The treated chromosomes were later made homozygous and tested for their effects on viability by comparison of the frequency of such homozygotes with that of other genotypes in the same culture. The treated wild-type chromosomes were kept heterozygous in Pm/+ males by mating individual males in successive generations to Cy/Pm females. The number of generations of accumulation was 1 to 30 generations, depending on the concentration of EMS. A similar experiment for spontaneous polygenic mutations was also conducted by accumulating mutations for 40 generations. The lower limit of the spontaneous mutation rate of viability polygenes is estimated to be 0.06 per second chromosome per generation, which is about 12 times as high as the spontaneous recessive lethal mutation rate, 0.005. EMS-induced polygenic mutations increase linearly with the number of treated generations and with the concentration of EMS. The minimum mutation rate of viability polygenes is about 0.017 per 10(-4)m, which is only slightly larger than the lethal rate of 0.013 per 10(-4) m. The maximum estimate of the viability reduction of a single mutant is about 6 to 10 percent of the normal viability. The data are consistent with a constant average effect per mutant at all concentrations, but this is about three times as high as that for spontaneous mutants. It is obvious that one can obtain only a lower limit for the mutation rate, since some mutants may have effects so near to zero that they cannot be detected. The possibility of measuring something other than the lower limit is discussed. The ratio of the load due to detrimental mutants to that caused by lethals, the D/L ratio, is about 0.2 to 0.3 for EMS-induced mutants, as compared to about 0.5 for spontaneous mutants. This is to be expected if EMS treatment produces a large fraction of small deletions and other chromosome rearrangements which are more likely to be lethal.
通过在连续几代中用EMS处理果蝇,使影响生存力的多基因突变得以在黑腹果蝇的第二条染色体上积累。随后使处理过的染色体纯合,并通过比较同一培养物中此类纯合子与其他基因型的频率,来测试它们对生存力的影响。通过在连续几代中将单个雄性果蝇与Cy/Pm雌性果蝇交配,使处理过的野生型染色体在Pm/+雄性果蝇中保持杂合状态。积累的代数为1至30代,具体取决于EMS的浓度。还通过积累40代突变进行了类似的自发多基因突变实验。生存力多基因的自发突变率下限估计为每条第二条染色体每代0.06,约为自发隐性致死突变率0.005的12倍。EMS诱导的多基因突变随处理代数和EMS浓度呈线性增加。生存力多基因的最小突变率约为每10(-4)m 0.017,仅略高于每10(-4)m 0.013的致死率。单个突变体导致的生存力降低的最大估计值约为正常生存力的6%至10%。这些数据与所有浓度下每个突变体的平均效应恒定一致,但这大约是自发突变体的三倍。显然,由于一些突变体的效应可能非常接近零以至于无法检测到,所以只能得到突变率的下限。讨论了测量下限以外其他值的可能性。对于EMS诱导的突变体,有害突变体导致的负荷与致死突变体导致的负荷之比,即D/L比,约为0.2至0.3,而自发突变体的该比值约为0.5。如果EMS处理产生了很大一部分小缺失和其他更可能致死的染色体重排,那么这是可以预期的。