Department of Zoology, University of British Columbia, Vancouver, BC V6T 1Z3, Canada.
Department of Developmental Genetics, Institute of Genetics, Technische Universität, Braunschweig 38106, Germany.
G3 (Bethesda). 2021 Dec 8;11(12). doi: 10.1093/g3journal/jkab328.
It has been estimated that 15%-30% of the ∼20,000 genes in C. elegans are essential, yet many of these genes remain to be identified or characterized. With the goal of identifying unknown essential genes, we performed whole-genome sequencing on complementation pairs from legacy collections of maternal-effect lethal and sterile mutants. This approach uncovered maternal genes required for embryonic development and genes with apparent sperm-specific functions. In total, 58 putative essential genes were identified on chromosomes III-V, of which 52 genes are represented by novel alleles in this collection. Of these 52 genes, 19 (40 alleles) were selected for further functional characterization. The terminal phenotypes of embryos were examined, revealing defects in cell division, morphogenesis, and osmotic integrity of the eggshell. Mating assays with wild-type males revealed previously unknown male-expressed genes required for fertilization and embryonic development. The result of this study is a catalog of mutant alleles in essential genes that will serve as a resource to guide further study toward a more complete understanding of this important model organism. As many genes and developmental pathways in C. elegans are conserved and essential genes are often linked to human disease, uncovering the function of these genes may also provide insight to further our understanding of human biology.
据估计，秀丽隐杆线虫（C. elegans）的约 20000 个基因中有 15%-30%是必需的，但其中许多基因仍有待鉴定或表征。为了鉴定未知的必需基因，我们对来自母体效应致死和不育突变体的遗传互补对的全基因组进行了测序。这种方法揭示了胚胎发育所必需的母体基因和具有明显精子特异性功能的基因。总共在 III-V 号染色体上鉴定了 58 个可能的必需基因，其中 52 个基因在此集合中代表新的等位基因。在这 52 个基因中，选择了 19 个（40 个等位基因）进行进一步的功能表征。检查了胚胎的末端表型，发现了细胞分裂、形态发生和卵壳渗透完整性的缺陷。与野生型雄性的交配实验揭示了先前未知的受精和胚胎发育所必需的雄性表达基因。这项研究的结果是一个必需基因的突变基因座目录，它将作为一个资源，指导进一步的研究，以更全面地了解这个重要的模式生物。由于秀丽隐杆线虫中的许多基因和发育途径是保守的，并且必需基因通常与人类疾病有关，因此揭示这些基因的功能也可能为我们进一步了解人类生物学提供线索。
