The genomic and phenotypic diversity of Schizosaccharomyces pombe.
The genomic and phenotypic diversity of Schizosaccharomyces pombe.
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精神分裂症的基因组和表型多样性。
DOI：
10.1038/ng.3215
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发表时间：
2015-03
期刊：
影响因子：
30.8
通讯作者：
Bähler J
中科院分区：
文献类型：
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作者：
Jeffares DC;Rallis C;Rieux A;Speed D;Převorovský M;Mourier T;Marsellach FX;Iqbal Z;Lau W;Cheng TM;Pracana R;Mülleder M;Lawson JL;Chessel A;Bala S;Hellenthal G;O'Fallon B;Keane T;Simpson JT;Bischof L;Tomiczek B;Bitton DA;Sideri T;Codlin S;Hellberg JE;van Trigt L;Jeffery L;Li JJ;Atkinson S;Thodberg M;Febrer M;McLay K;Drou N;Brown W;Hayles J;Carazo Salas RE;Ralser M;Maniatis N;Balding DJ;Balloux F;Durbin R;Bähler J
物种内的自然变异揭示了基因组进化和功能的各个方面。裂殖酵母是真核生物学的重要模型，但研究人员通常使用一种标准的实验室菌株。为了扩展该模型的实用性，我们调查了161个自然分离株的基因组和表型变异。我们对所有菌株的基因组进行了测序，揭示了中等的遗传多样性（π = 3 ×10−3）和弱的全球种群结构。我们估计S.粟酒裂殖酵母起源于人类古代（约公元前340年），这些菌株的祖先在公元1623年到达美洲。我们量化了74个性状，揭示了大量的遗传表型多样性。我们进行了223项全基因组关联研究，其中89个性状显示至少一种关联。每个性状最显著的变异平均解释了22%的方差，indel的影响高于SNP。这种分析提供了丰富的资源，在一个易于处理的模型中检查基因型-表型关系。
Natural variation within species reveals aspects of genome evolution and function. The fission yeast Schizosaccharomyces pombe is an important model for eukaryotic biology, but researchers typically use one standard laboratory strain. To extend the utility of this model, we surveyed the genomic and phenotypic variation in 161 natural isolates. We sequenced the genomes of all strains, revealing moderate genetic diversity (π = 3 ×10−3) and weak global population structure. We estimate that dispersal of S. pombe began within human antiquity (~340 BCE), and ancestors of these strains reached the Americas at ~1623 CE. We quantified 74 traits, revealing substantial heritable phenotypic diversity. We conducted 223 genome-wide association studies, with 89 traits showing at least one association. The most significant variant for each trait explained 22% of variance on average, with indels having higher effects than SNPs. This analysis presents a rich resource to examine genotype-phenotype relationships in a tractable model.