Janca F C, Woloshyn E P, Nash D
Genetics. 1986 Jan;112(1):43-64. doi: 10.1093/genetics/112.1.43.
Of 24 ethyl methanesulphonate-induced, recessive-lethal mutations in the region 9E1-9F13 of the X chromosome of Drosophila melanogaster, eight fall into a typically homogeneous lethal complementation group associated with the raspberry (ras) locus. Mutations in this group have previously been shown to be pleiotropic, affecting not only ras but also two other genetic entities, gua 1 and pur 1, which yield auxotrophic mutations.--The eight new mutations have been characterized phenotypically in double heterozygotes with gua 1, pur 1 and ras mutations. Despite their homogeneity in lethal complementation tests, the mutations prove quite diverse. For example, two mutations have little or no effect on eye color in double heterozygotes with ras2. The differences between the lethals are allele-specific and cannot be explained as a trivial outcome of a hypomorphic series.--Taken alone, the lethal complementation studies mask the complexity of the locus and the diversity of its recessive lethal alleles. By extension, we argue that the general use of lethal saturation studies provides an unduly simplified image of genetic organization. We suggest that the reason why recessive lethal mutations rarely present complex complementation patterns is that complex loci tend to produce mutations that affect several subfunctions.
在黑腹果蝇X染色体9E1 - 9F13区域的24个甲磺酸乙酯诱导的隐性致死突变中,有8个属于与raspberry(ras)位点相关的典型均匀致死互补群。此前已表明该群中的突变具有多效性,不仅影响ras,还影响另外两个遗传实体gua 1和pur 1,它们会产生营养缺陷型突变。——这8个新突变已在与gua 1、pur 1和ras突变的双杂合子中进行了表型特征分析。尽管它们在致死互补测试中具有同质性,但这些突变证明是相当多样的。例如,在与ras2的双杂合子中,有两个突变对眼色几乎没有影响。致死突变之间的差异是等位基因特异性的,不能解释为亚效等位基因系列的微不足道的结果。——单独来看,致死互补研究掩盖了该位点的复杂性及其隐性致死等位基因的多样性。由此推广,我们认为致死饱和研究的普遍使用提供了一幅过于简化的遗传组织图像。我们认为隐性致死突变很少呈现复杂互补模式的原因是复杂位点倾向于产生影响多个亚功能的突变。