Jeffares Daniel C, Rallis Charalampos, Rieux Adrien, Speed Doug, Převorovský Martin, Mourier Tobias, Marsellach Francesc X, Iqbal Zamin, Lau Winston, Cheng Tammy M K, Pracana Rodrigo, Mülleder Michael, Lawson Jonathan L D, Chessel Anatole, Bala Sendu, Hellenthal Garrett, O'Fallon Brendan, Keane Thomas, Simpson Jared T, Bischof Leanne, Tomiczek Bartlomiej, Bitton Danny A, Sideri Theodora, Codlin Sandra, Hellberg Josephine E E U, van Trigt Laurent, Jeffery Linda, Li Juan-Juan, Atkinson Sophie, Thodberg Malte, Febrer Melanie, McLay Kirsten, Drou Nizar, Brown William, Hayles Jacqueline, Carazo Salas Rafael E, Ralser Markus, Maniatis Nikolas, Balding David J, Balloux Francois, Durbin Richard, Bähler Jürg
Department of Genetics, Evolution and Environment, University College London, London, UK.
1] Department of Genetics, Evolution and Environment, University College London, London, UK. [2] University College London Genetics Institute, University College London, London, UK.
Nat Genet. 2015 Mar;47(3):235-41. doi: 10.1038/ng.3215. Epub 2015 Feb 9.
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 usefulness of this model, we surveyed the genomic and phenotypic variation in 161 natural isolates. We sequenced the genomes of all strains, finding moderate genetic diversity (π = 3 × 10(-3) substitutions/site) and weak global population structure. We estimate that dispersal of S. pombe began during human antiquity (∼340 BCE), and ancestors of these strains reached the Americas at ∼1623 CE. We quantified 74 traits, finding 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 the phenotypic variance on average, with indels having larger effects than SNPs. This analysis represents a rich resource to examine genotype-phenotype relationships in a tractable model.
物种内的自然变异揭示了基因组进化和功能的各个方面。裂殖酵母粟酒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实验室菌株。为了扩展该模型的用途,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,发现了适度的遗传多样性(π = 3 × 10(-3) 替换/位点)和较弱的全球种群结构。我们估计粟酒裂殖酵母的传播始于古代人类时期(约公元前340年),这些菌株的祖先在公元1623年左右到达美洲。我们对74个性状进行了量化,发现了大量可遗传的表型多样性。我们进行了223项全基因组关联研究,其中89个性状显示出至少一种关联。每个性状最显著的变异平均解释了22%的表型变异,插入缺失的影响比单核苷酸多态性更大。该分析为在一个易于处理的模型中研究基因型-表型关系提供了丰富的资源。