Malone E A, Thomas J H
Department of Genetics, University of Washington, Seattle 98195.
Genetics. 1994 Mar;136(3):879-86. doi: 10.1093/genetics/136.3.879.
In Caenorhabditis elegans, formation of the developmentally arrested dauer larva is induced by high levels of a constitutively secreted pheromone. Synergy between two groups of incompletely penetrant dauer-constitutive (Daf-c) mutations has recently led to a proposal that these two groups of genes are partially redundant and function in two parallel pathways that regulate dauer formation. A possible weakness in this reasoning is that the mutations used to identify the synergy were specifically obtained as incompletely penetrant mutations. Here we use screens to identify new Daf-c alleles without any requirement for partial penetrance. Nevertheless, 22 of the 25 new mutations are incompletely penetrant mutations in 6 previously identified genes. Among these are mutations in daf-8 and daf-19, genes for which only one mutation had been previously identified. Also included in this group are three daf-1 alleles that do not exhibit the maternal rescue characteristic of other daf-1 alleles. Two of the 25 new mutations are fully penetrant and are alleles of daf-2, the one gene in which a fully penetrant mutation had been found earlier. Finally, one of the 25 new mutations is semidominant, temperature-sensitive, and identifies a new gene, daf-28. The results demonstrate that an incompletely penetrant Daf-c phenotype is characteristic of mutations in most Daf-c genes other than daf-2. This finding strengthens the hypothesis that a branched genetic pathway controls dauer formation.
在秀丽隐杆线虫中,发育停滞的 dauer 幼虫的形成是由高水平的组成型分泌信息素诱导的。最近,两组不完全显性的 dauer 组成型(Daf-c)突变之间的协同作用导致了一种观点,即这两组基因部分冗余,并在调节 dauer 形成的两条平行途径中发挥作用。这种推理可能存在的一个弱点是,用于鉴定协同作用的突变是专门作为不完全显性突变获得的。在这里,我们通过筛选来鉴定新的 Daf-c 等位基因,而无需任何部分显性的要求。然而,25 个新突变中有 22 个是先前鉴定的 6 个基因中的不完全显性突变。其中包括 daf-8 和 daf-19 的突变,此前仅鉴定出一个该基因的突变。这一组中还包括三个 daf-1 等位基因,它们不表现出其他 daf-1 等位基因的母体拯救特征。25 个新突变中有两个是完全显性的,是 daf-2 的等位基因,此前在该基因中发现了一个完全显性突变。最后,25 个新突变中有一个是半显性、温度敏感的,并鉴定出一个新基因 daf-28。结果表明,除 daf-2 外,大多数 Daf-c 基因的突变都具有不完全显性的 Daf-c 表型。这一发现强化了分支遗传途径控制 dauer 形成的假说。