Mitenko N L, Eisner J R, Swiston J R, Mains P E
Department of Medical Biochemistry, The University of Calgary, Alberta, Canada.
Genetics. 1997 Dec;147(4):1665-74. doi: 10.1093/genetics/147.4.1665.
Dominant gain-of-function mutations can give unique insights into the study of gene function. In addition, gain-of-function mutations, unlike loss-of-function alleles, are not biased against the identification of genetically redundant loci. To identify novel genetic functions active during Caenorhabditis elegans embryogenesis, we have collected a set of dominant temperature-sensitive maternal-effect embryonic lethal mutations. In a previous screen, we isolated eight such mutations, distributed among six genes. In the present study, we describe eight new dominant mutations that identify only three additional genes, yielding a total of 16 dominant mutations found in nine genes. Therefore, it appears that a limited number of C. elegans genes mutate to this phenotype at appreciable frequencies. Five of the genes that we identified by dominant mutations have loss-of-function alleles. Two of these genes may lack loss-of-function phenotypes, indicating that they are nonessential and so may represent redundant loci. Loss-of-function mutations of three other genes are associated with recessive lethality, indicating nonredundancy.
显性功能获得性突变能够为基因功能研究提供独特的见解。此外,与功能丧失等位基因不同,功能获得性突变在识别基因冗余位点方面不存在偏差。为了鉴定秀丽隐杆线虫胚胎发育过程中活跃的新基因功能,我们收集了一组显性温度敏感型母体效应胚胎致死突变。在之前的一次筛选中,我们分离出了八个这样的突变,分布在六个基因中。在本研究中,我们描述了八个新的显性突变,它们仅识别出另外三个基因,总共在九个基因中发现了16个显性突变。因此,似乎只有有限数量的秀丽隐杆线虫基因会以可观的频率突变为这种表型。我们通过显性突变鉴定出的五个基因具有功能丧失等位基因。其中两个基因可能缺乏功能丧失表型,这表明它们是非必需的,因此可能代表冗余位点。另外三个基因的功能丧失突变与隐性致死相关,表明不存在冗余。