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三刺鱼基因组中的重组——模式与后果。

Recombination in the threespine stickleback genome--patterns and consequences.

机构信息

Zoological Institute, University of Basel, Vesalgasse 1, CH-4051, Basel, Switzerland.

出版信息

Mol Ecol. 2013 Jun;22(11):3014-27. doi: 10.1111/mec.12322. Epub 2013 Apr 22.

Abstract

Heterogeneity in recombination rate may strongly influence genome evolution and entail methodological challenges to genomic investigation. Nevertheless, a solid understanding of these issues awaits detailed information across a broad range of taxa. Based on 282 F(2) individuals and 1872 single nucleotide polymorphisms, we characterize recombination in the threespine stickleback fish genome. We find an average genome-wide recombination rate of 3.11 cm/Mb. Crossover frequencies are dramatically elevated in the chromosome peripheries as compared to the centres, and are consistent with one obligate crossover per chromosome (but not chromosome arm). Along the sex chromosome, we show that recombination is restricted to a small pseudoautosomal domain of c. 2 Mb, spanning only 10% of that chromosome. Comparing female to male RAD sequence coverage allows us to identify two discrete levels of degeneration on the Y chromosome, one of these 'evolutionary strata' coinciding with a previously inferred inverted region. Using polymorphism data from two young (<10 000 years old) ecologically diverged lake-stream population pairs, we demonstrate that recombination rate correlates with both the magnitude of allele frequency shifts between populations and levels of genetic diversity within populations. These associations reflect genome-wide heterogeneity in the influence of selection on linked sites. We further find a strong relationship between recombination rate and GC content, possibly driven by GC-biased gene conversion. Overall, we highlight that heterogeneity in recombination rate has profound consequences on genome evolution and deserves wider recognition in marker-based genomic analyses.

摘要

重组率的异质性可能会强烈影响基因组的进化,并给基因组研究带来方法学上的挑战。然而,要全面了解这些问题,还需要在广泛的分类群中获得详细的信息。基于 282 个 F2 个体和 1872 个单核苷酸多态性,我们描述了三刺鱼基因组中的重组情况。我们发现平均全基因组重组率为 3.11 cm/Mb。与中心区域相比,染色体边缘的交叉频率显著升高,与每条染色体上有一个必需的交叉(但不是染色体臂)一致。在性染色体上,我们表明重组仅限于大约 2 Mb 的小假常染色体区域,仅占该染色体的 10%。比较雌性和雄性 RAD 序列覆盖度,我们可以识别出 Y 染色体上的两个离散退化水平,其中一个“进化层”与先前推断的倒位区域重合。利用来自两个年轻(<10000 年)生态分化的湖泊-溪流种群对的多态性数据,我们证明重组率与种群间等位基因频率变化的幅度以及种群内遗传多样性水平相关。这些关联反映了连锁位点上选择对基因组的广泛异质性影响。我们还发现重组率与 GC 含量之间存在很强的关系,这可能是由 GC 偏向性基因转换驱动的。总的来说,我们强调重组率的异质性对基因组进化有深远的影响,在基于标记的基因组分析中值得更广泛的认识。

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