Transient structural variations have strong effects on quantitative traits and reproductive isolation in fission yeast.
Transient structural variations have strong effects on quantitative traits and reproductive isolation in fission yeast.
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DOI：
10.1038/ncomms14061
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发表时间：
2017-01-24
影响因子：
16.6
通讯作者：
Sedlazeck FJ
中科院分区：
文献类型：
--
作者：
Jeffares DC;Jolly C;Hoti M;Speed D;Shaw L;Rallis C;Balloux F;Dessimoz C;Bähler J;Sedlazeck FJ
基因组内的大结构变异（SVs）比小的遗传变异更具有挑战性，但可能对表型多样性和进化有重大贡献。本文分析了SVs对酵母裂糖酵母基因表达、数量性状和内在生殖分离的影响。我们建立了一个高质量的S. pombe菌株基因组的策划目录，包括重复，缺失，倒置和易位。我们发现拷贝数变异（CNVs）表现出与快速更新一致的多种遗传信号。这些瞬时CNVs对复制区域内外的基因表达产生化学计量效应。CNVs对数量性状有重大贡献，最显著的是细胞内氨基酸浓度、逆境生长和酿酒中的糖利用，而重排与生殖隔离密切相关。总的来说，这些发现对进化和我们对包括复杂人类疾病在内的数量性状的理解具有广泛的意义。裂糖酵母（Schizosaccharomyces pombe）具有多种性状。Jeffares等人研究了S. pombe的大拷贝数变异（cnv）和重排，并表明cnv是短暂的，对数量性状和基因表达有影响，而重排影响内在的生殖隔离。
Large structural variations (SVs) within genomes are more challenging to identify than smaller genetic variants but may substantially contribute to phenotypic diversity and evolution. We analyse the effects of SVs on gene expression, quantitative traits and intrinsic reproductive isolation in the yeast Schizosaccharomyces pombe. We establish a high-quality curated catalogue of SVs in the genomes of a worldwide library of S. pombe strains, including duplications, deletions, inversions and translocations. We show that copy number variants (CNVs) show a variety of genetic signals consistent with rapid turnover. These transient CNVs produce stoichiometric effects on gene expression both within and outside the duplicated regions. CNVs make substantial contributions to quantitative traits, most notably intracellular amino acid concentrations, growth under stress and sugar utilization in winemaking, whereas rearrangements are strongly associated with reproductive isolation. Collectively, these findings have broad implications for evolution and for our understanding of quantitative traits including complex human diseases. Fission yeast Schizosaccharomyces pombe has diverse traits. Jeffares et al. characterize large copy number variations (CNVs) and rearrangements in S. pombe, and show that CNVs are transient with effects on quantitative traits and gene expression, whereas rearrangements influence intrinsic reproductive isolation.