Genetic variation in aneuploidy prevalence and tolerance across Saccharomyces cerevisiae lineages.
Genetic variation in aneuploidy prevalence and tolerance across Saccharomyces cerevisiae lineages.
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DOI：
10.1093/genetics/iyab015
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发表时间：
2021-03
期刊：
影响因子：
3.3
通讯作者：
E. F. Scopel;James Hose;D. Bensasson;A. Gasch
中科院分区：
文献类型：
--
作者：
E. F. Scopel;James Hose;D. Bensasson;A. Gasch
携带异常数目染色体的个体可以在非整倍体表型的表达上有很大的差异。一个尚未回答的主要问题是，一个人的基因构成在多大程度上影响了他对核型不平衡的耐受性。在这里，我们使用酿酒酵母作为真核生物学的模型，研究了非整倍体流行率和耐受性的物种内变异。我们分析了最近发表的1000多个酿酒酵母菌株的基因类型和表型变异，这些菌株跨越了数十个基因定义的分支和生态关联。我们的结果表明，染色体获得和丢失的流行率因分支而异，并且可以更好地解释遗传背景的差异，而不是生态学。具有高非整倍体频率的谱系之间的关系表明，在酿酒酵母进化过程中，非整倍体患病率增加了多次。除了非整倍体的流行，分析生长表型显示，与整倍体相比，一些遗传背景--如欧洲葡萄酒世系--显示出非整倍体的适合性成本，而其他非整倍体频率较高的支系几乎没有显示出重大有害影响的证据。我们的分析证实，染色体的获得可以产生表型优势，这可能会影响进化轨迹。这些结果对于理解非整倍体在健康、疾病和进化中流行的遗传变异具有重要意义。
Individuals carrying an aberrant number of chromosomes can vary widely in their expression of aneuploidy phenotypes. A major unanswered question is the degree to which an individual's genetic makeup influences its tolerance of karyotypic imbalance. Here we investigated within-species variation in aneuploidy prevalence and tolerance, using Saccharomyces cerevisiae as a model for eukaryotic biology. We analyzed genotypic and phenotypic variation recently published for over 1,000 S. cerevisiae strains spanning dozens of genetically defined clades and ecological associations. Our results show that the prevalence of chromosome gain and loss varies by clade and can be better explained by differences in genetic background than ecology. The relationships between lineages with high aneuploidy frequencies suggest that increased aneuploidy prevalence emerged multiple times in S. cerevisiae evolution. Separate from aneuploidy prevalence, analyzing growth phenotypes revealed that some genetic backgrounds-such as the European Wine lineage-show fitness costs in aneuploids compared to euploids, whereas other clades with high aneuploidy frequencies show little evidence of major deleterious effects. Our analysis confirms that chromosome gain can produce phenotypic benefits, which could influence evolutionary trajectories. These results have important implications for understanding genetic variation in aneuploidy prevalence in health, disease, and evolution.