Moerman D G, Waterston R H
Genetics. 1984 Dec;108(4):859-77. doi: 10.1093/genetics/108.4.859.
This paper describes a mutator system in the nematode Caenorhabditis elegans var. Bergerac for the gene unc-22. Of nine C. elegans and two C. briggsae strains tested only the Bergerac BO strain yielded mutant animals at a high frequency and the unc-22 IV gene is a preferred mutational target. The forward spontaneous mutation frequency at the unc-22 locus in Bergerac BO is about 1 X 10(-4), and most of these spontaneous unc-22 mutations revert at frequencies between 2 X 10(-3) and 2 X 10(-4). Both the forward mutation frequency and the reversion frequency are sensitive to genetic background. Spontaneous unc-22 mutations derived in a Bergerac background and placed in a primarily Bristol background revert at frequencies of less than 10(-6). When reintroduced into a Bergerac/Bristol hybrid background the mutations once again become unstable. The mutator activity could not be localized to a discrete site in the Bergerac genome. Nor did mutator activity require the Bergerac unc-22 gene as a target since the Bristol unc-22 homolog placed in a Bergerac background also showed high mutation frequency. Intragenic mapping of two spontaneous unc-22 alleles, st136 and st137, place both mutations in the central region of the known unc-22 map. However, these mutations probably recombine with one another, suggesting that the unstable mutations can occur in more than one site in unc-22. Examination of the phenotypic effect of these mutations on muscle structure indicates that they are less severe in their effect than a known amber allele. We suggest that this mutator system is polygenic and dispersed over the nematode genome and could represent activity of the transposable element Tc1.
本文描述了秀丽隐杆线虫变种Bergerac中针对unc-22基因的一个突变系统。在测试的9个秀丽隐杆线虫品系和2个briggsae线虫品系中,只有Bergerac BO品系能高频产生突变动物,且unc-22 IV基因是一个优先的突变靶点。Bergerac BO中unc-22位点的正向自发突变频率约为1×10⁻⁴,这些自发的unc-22突变大多以2×10⁻³至2×10⁻⁴之间的频率回复突变。正向突变频率和回复突变频率均对遗传背景敏感。在Bergerac背景中产生并置于主要是Bristol背景中的自发unc-22突变,其回复突变频率低于10⁻⁶。当重新引入Bergerac/Bristol杂交背景时,这些突变再次变得不稳定。突变活性不能定位于Bergerac基因组中的一个离散位点。突变活性也不需要Bergerac unc-22基因作为靶点,因为置于Bergerac背景中的Bristol unc-22同源基因也显示出高突变频率。对两个自发unc-22等位基因st136和st137进行基因内定位,发现这两个突变都位于已知unc-22图谱的中心区域。然而,这些突变可能彼此重组,这表明不稳定突变可发生在unc-22的多个位点。对这些突变对肌肉结构的表型效应进行检查表明,它们的效应不如已知的琥珀突变等位基因严重。我们认为这个突变系统是多基因的,分散在线虫基因组中,可能代表转座元件Tc1的活性。