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首页> 外文期刊>BMC Genomics >Characterization of meiotic crossovers and gene conversion by whole-genome sequencing in Saccharomyces cerevisiae
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Characterization of meiotic crossovers and gene conversion by whole-genome sequencing in Saccharomyces cerevisiae

机译：酿酒酵母全基因组测序的减数分裂转换和基因转化的表征

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Background Meiotic recombination alters frequency and distribution of genetic variation, impacting genetics and evolution. In the budding yeast, DNA double strand breaks (DSBs) and D loops form either crossovers (COs) or non-crossovers (NCOs), which occur at many sites in the genome. Differences at the nucleotide level associated with COs and NCOs enable us to detect these recombination events and their distributions. Results We used high throughput sequencing to uncover over 46 thousand single nucleotide polymorphisms (SNPs) between two budding yeast strains and investigated meiotic recombinational events. We provided a detailed analysis of CO and NCO events, including number, size range, and distribution on chromosomes. We have detected 91 COs, very close to the average number from previous genetic studies, as well as 21 NCO events and mapped the positions of these events with high resolution. We have obtained DNA sequence-level evidence for a wide range of sizes of chromosomal regions involved in CO and NCO events. We show that a large fraction of the COs are accompanied by gene conversion (GC), indicating that meiotic recombination changes allelic frequencies, in addition to redistributing existing genetic variations. Conclusion This work is the first reported study of meiotic recombination using high throughput sequencing technologies. Our results show that high-throughput sequencing is a sensitive method to uncover at single-base resolution details of CO and NCO events, including some complex patterns, providing new clues about the mechanism of this fundamental process.
机译：背景减数分裂重组改变了遗传变异的频率和分布，影响了遗传和进化。在发芽酵母中，DNA双链断裂（DSB）和D环形成交换（COs）或非交换（NCO），它们发生在基因组的许多位点。与CO和NCO相关的核苷酸水平的差异使我们能够检测到这些重组事件及其分布。结果我们使用高通量测序发现了两个新芽酵母菌株之间的46 000个单核苷酸多态性（SNP），并研究了减数分裂重组事件。我们提供了对CO和NCO事件的详细分析，包括数量，大小范围和在染色体上的分布。我们已经检测到91个CO，非常接近先前遗传研究的平均值，还检测了21个NCO事件，并以高分辨率绘制了这些事件的位置图。我们已经获得了涉及CO和NCO事件的各种染色体区域大小的DNA序列水平证据。我们显示，大部分CO伴随着基因转化（GC），表明减数分裂重组改变了等位基因频率，除了重新分布了现有的遗传变异。结论这项工作是首次报道使用高通量测序技术进行减数分裂重组的研究。我们的结果表明，高通量测序是一种敏感的方法，可用于以单碱基分辨率揭示CO和NCO事件的细节，包括一些复杂的模式，从而提供了有关此基本过程机理的新线索。

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