Université de Strasbourg, CNRS, GMGM UMR 7156, Strasbourg, France.
Université Côte d'Azur, CNRS, INSERM, IRCAN, Nice, France.
Nature. 2018 Apr;556(7701):339-344. doi: 10.1038/s41586-018-0030-5. Epub 2018 Apr 11.
Large-scale population genomic surveys are essential to explore the phenotypic diversity of natural populations. Here we report the whole-genome sequencing and phenotyping of 1,011 Saccharomyces cerevisiae isolates, which together provide an accurate evolutionary picture of the genomic variants that shape the species-wide phenotypic landscape of this yeast. Genomic analyses support a single 'out-of-China' origin for this species, followed by several independent domestication events. Although domesticated isolates exhibit high variation in ploidy, aneuploidy and genome content, genome evolution in wild isolates is mainly driven by the accumulation of single nucleotide polymorphisms. A common feature is the extensive loss of heterozygosity, which represents an essential source of inter-individual variation in this mainly asexual species. Most of the single nucleotide polymorphisms, including experimentally identified functional polymorphisms, are present at very low frequencies. The largest numbers of variants identified by genome-wide association are copy-number changes, which have a greater phenotypic effect than do single nucleotide polymorphisms. This resource will guide future population genomics and genotype-phenotype studies in this classic model system.
大规模的群体基因组调查对于探索自然种群的表型多样性至关重要。在这里,我们报告了 1011 个酿酒酵母分离株的全基因组测序和表型分析,这些数据共同提供了一个准确的进化图景,展示了基因组变异如何塑造了这个酵母物种的广泛表型景观。基因组分析支持该物种起源于中国,随后发生了几次独立的驯化事件。尽管驯化的分离株在ploidy、aneuploidy 和基因组含量方面表现出高度的变异性,但野生分离株的基因组进化主要是由单核苷酸多态性的积累驱动的。一个共同的特征是广泛的杂合性丢失,这是这个主要是无性的物种中个体间变异的一个重要来源。大多数单核苷酸多态性,包括实验鉴定的功能多态性,都以非常低的频率存在。通过全基因组关联鉴定出的最大数量的变体是拷贝数变化,其表型效应大于单核苷酸多态性。这个资源将指导未来这个经典模式系统的群体基因组学和基因型-表型研究。