Identification of essential genes in Caenorhabditis elegans through whole-genome sequencing of legacy mutant collections.
Identification of essential genes in Caenorhabditis elegans through whole-genome sequencing of legacy mutant collections.
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DOI：
10.1093/g3journal/jkab328
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发表时间：
2021-12-08
期刊：
影响因子：
--
通讯作者：
Moerman DG
中科院分区：
文献类型：
--
作者：
Li-Leger E;Feichtinger R;Flibotte S;Holzkamp H;Schnabel R;Moerman DG
据估计，C.线虫是必不可少的，但许多这些基因仍有待确定或表征。为了确定未知的必需基因，我们对来自母体效应致死和不育突变体的遗留集合的互补对进行了全基因组测序。这种方法发现了胚胎发育所需的母体基因和具有明显精子特异性功能的基因。总共在染色体III-V上鉴定了58个推定的必需基因，其中52个基因在该集合中由新等位基因表示。在这52个基因中，选择19个（40个等位基因）用于进一步的功能表征。胚胎的终端表型进行了检查，揭示缺陷的细胞分裂，形态发生，和渗透完整性的蛋壳。野生型雄性交配试验揭示了受精和胚胎发育所需的先前未知的雄性表达基因。这项研究的结果是一个目录中的突变等位基因的必需基因，将作为一个资源，以指导进一步的研究，对这个重要的模式生物更完整的了解。C.线虫是保守的，必需基因通常与人类疾病有关，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见解。据估计，15-30%的C。线虫的基因是必不可少的，但其中许多基因仍有待鉴定或表征。作者对母体效应致死和不育突变体的遗留集合进行了全基因组测序，发现了代表52个必需基因的新等位基因。选择19个基因进行进一步的功能表征，揭示胚胎发生和受精中的缺陷。由此产生的目录中的突变等位基因的必需基因是一个资源，以指导进一步的研究走向更全面的了解这一重要的模式生物。
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. Estimates suggest that 15-30% of C. elegans genes are essential, yet many of these remain to be identified or characterized. The authors performed whole-genome sequencing on legacy collections of maternal-effect lethal and sterile mutants, uncovering novel alleles representing 52 essential genes. 19 genes were selected for further functional characterization, revealing defects in embryogenesis and fertilization. The resulting catalogue of mutant alleles in essential genes is a resource to guide further study toward a more complete understanding of this important model organism.
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影响因子：
64.8
作者：
Denver, DR;Morris, K;Thomas, WK
通讯作者：
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作者：
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作者：
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影响因子：
9.2
作者：
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通讯作者：
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