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x射线诱导酿酒酵母突变的特征分析
首发时间：2024-05-10
摘要：目的：选用模式生物酿酒酵母作为研究对象，明确x射线诱导基因突变的特征。方法：采用50 gy和100 gy的x射线处理野生型（wild type，wt）、rad52基因敲除型（rad52 gene knocked-out，rad52δ）、yku70基因敲除型（yku70 gene knocked-out，yku70δ）三种酿酒酵母，收获单细胞克隆后提取基因组dna进行二代测序与突变检出，系统分析突变的数量与分布，进一步结合突变类型、基因长度、基因表达、核小体定位分析突变特征。结果：x射线处理显著提升wt和yku70δ酿酒酵母的突变率。同源重组修复功能缺失的rad52δ放射敏感性最高、突变率最高。突变在染色体水平上均匀分布。100 gy处理的转换颠换比显著高于预期值。约一半发生在编码区的突变会影响基因的表达和功能。x射线诱导的突变更易发生在稍短的基因中。100 gy处理组诱导突变所在基因的表达较低，更易发生在核小体之间的连接处。结论：x射线诱导酿酒酵母的突变在ts/tv比值、所在基因长度与表达及核小体定位中存在一定的特征性表现。
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characteristics analysis of x ray-induced mutations in saccharomyces cerevisiae
abstract：objective: to elucidate the characteristics of x-ray-induced mutations by using model organism saccharomyces cerevisiae as the research subject. methods: wild-type (wt), rad52 gene knocked-out (rad52δ), and yku70 gene knocked-out (yku70δ) saccharomyces cerevisiae were treated with x-rays at doses of 50 gy and 100 gy. after harvesting single-cell clones, genomic dna was extracted for next-generation sequencing and mutation calling. mutations were systematically analyzed for quantity, distribution, and further characterized by mutation type, gene length, gene expression, and nucleosome positioning. results: x-ray treatment significantly increased the mutation rate in wt and yku70δ saccharomyces cerevisiae. the rad52δ strain, deficient in homologous recombination function, exhibited the highest radiosensitivity and mutation rate. mutations were evenly distributed across chromosomes. the rate of transitions/transversions in the 100 gy-treated group was significantly higher than the expected value. approximately half of the mutations occurring in coding regions affected gene expression and function. x-ray-induced mutations were more likely to occur in slightly shorter genes. genes harboring induced mutations in the 100 gy-treated group showed lower expression and these mutations were more likely to be located at nucleosome junctions. conclusion: x-ray-induced mutations in saccharomyces cerevisiae exhibit characteristic features in ts/tv ratio, gene length, expression, and nucleosome positioning.
keywords： radiation medicine x-rays mutations saccharomyces cerevisiae mutation characteristics
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