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来自一个孤立岛屿的小鼠全基因组重组率进化的遗传学研究

Genetics of Genome-Wide Recombination Rate Evolution in Mice from an Isolated Island.

作者信息

Wang Richard J, Payseur Bret A

机构信息

Laboratory of Genetics, University of Wisconsin-Madison, Wisconsin 53706.

Laboratory of Genetics, University of Wisconsin-Madison, Wisconsin 53706

出版信息

Genetics. 2017 Aug;206(4):1841-1852. doi: 10.1534/genetics.117.202382. Epub 2017 Jun 2.

Abstract

Recombination rate is a heritable quantitative trait that evolves despite the fundamentally conserved role that recombination plays in meiosis. Differences in recombination rate can alter the landscape of the genome and the genetic diversity of populations. Yet our understanding of the genetic basis of recombination rate evolution in nature remains limited. We used wild house mice () from Gough Island (GI), which diverged recently from their mainland counterparts, to characterize the genetics of recombination rate evolution. We quantified genome-wide autosomal recombination rates by immunofluorescence cytology in spermatocytes from 240 F males generated from intercrosses between GI-derived mice and the wild-derived inbred strain WSB/EiJ. We identified four quantitative trait loci (QTL) responsible for inter-F variation in this trait, the strongest of which had effects that opposed the direction of the parental trait differences. Candidate genes and mutations for these QTL were identified by overlapping the detected intervals with whole-genome sequencing data and publicly available transcriptomic profiles from spermatocytes. Combined with existing studies, our findings suggest that genome-wide recombination rate divergence is not directional and its evolution within and between subspecies proceeds from distinct genetic loci.

摘要

重组率是一种可遗传的数量性状,尽管重组在减数分裂中发挥着基本保守的作用,但它仍会发生进化。重组率的差异会改变基因组格局和种群的遗传多样性。然而,我们对自然界中重组率进化的遗传基础的理解仍然有限。我们使用了来自戈夫岛(GI)的野生家鼠(),它们最近与大陆的同类物种分化开来,以表征重组率进化的遗传学特征。我们通过免疫荧光细胞学方法,对由GI衍生的小鼠与野生衍生的近交系WSB/EiJ杂交产生的240只F雄性小鼠的精母细胞中的全基因组常染色体重组率进行了量化。我们确定了四个负责该性状F间变异的数量性状位点(QTL),其中最强的QTL的作用与亲本性状差异的方向相反。通过将检测到的区间与全基因组测序数据以及来自精母细胞的公开可用转录组图谱进行重叠,确定了这些QTL的候选基因和突变。结合现有研究,我们的发现表明全基因组重组率的差异不是定向的,其在亚种内和亚种间的进化来自不同的基因座。

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