期刊论文详细信息
G3: Genes, Genomes, Genetics
Genomic Identification and Functional Characterization of Essential Genes in Caenorhabditis elegans
article
Zhaozhao Qin1  Robert Johnsen1  Shicheng Yu2  Jeffrey Shih-Chieh Chu3  David L. Baillie1  Nansheng Chen1 
[1] Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, British Columbia V5A 1S6, Canada;Key Laboratory of Combinatorial Biosynthesis and Drug Discovery, School of Pharmaceutical Sciences, Wuhan University, 430071, China;Wuhan Frasergen Bioinformatics, Wuhan East Lake High-Tech Zone, 430075, China
关键词: essential gene;    lethal;    genetic balancer;    whole genome sequencing (WGS);    functional characterization;   
DOI  :  10.1534/g3.117.300338
学科分类:社会科学、人文和艺术(综合)
来源: Genetics Society of America
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【 摘 要 】

Using combined genetic mapping, Illumina sequencing, bioinformatics analyses, and experimental validation, we identified 60 essential genes from 104 lethal mutations in two genomic regions of Caenorhabditis elegans totaling ∼14 Mb on chromosome III(mid) and chromosome V(left). Five of the 60 genes had not previously been shown to have lethal phenotypes by RNA interference depletion. By analyzing the regions around the lethal missense mutations, we identified four putative new protein functional domains. Furthermore, functional characterization of the identified essential genes shows that most are enzymes, including helicases, tRNA synthetases, and kinases in addition to ribosomal proteins. Gene Ontology analysis indicated that essential genes often encode for enzymes that conduct nucleic acid binding activities during fundamental processes, such as intracellular DNA replication, transcription, and translation. Analysis of essential gene shows that they have fewer paralogs, encode proteins that are in protein interaction hubs, and are highly expressed relative to nonessential genes. All these essential gene traits in C. elegans are consistent with those of human disease genes. Most human orthologs (90%) of the essential genes in this study are related to human diseases. Therefore, functional characterization of essential genes underlines their importance as proxies for understanding the biological functions of human disease genes.

【 授权许可】

CC BY|CC BY-NC   

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