Faculty of Life Sciences, University of Manchester, Manchester, Lancashire, M13 9PT, United Kingdom.
G3 (Bethesda). 2013 Nov 6;3(11):1965-77. doi: 10.1534/g3.113.008144.
Variation in gene copy number can significantly affect organism fitness. When one allele is missing in a diploid, the phenotype can be compromised because of haploinsufficiency. In this work, we identified associations between Saccharomyces cerevisiae gene properties and genome-scale haploinsufficiency phenotypes from previous work. We compared the haploinsufficiency profiles against 23 gene properties and found that genes with higher level of connectivity (degree) in a protein-protein interaction network, higher genetic interaction degree, greater gene sequence conservation, and higher protein expression were significantly more likely to be haploinsufficient. Additionally, haploinsufficiency showed negative relationships with cell cycle regulation and promoter sequence conservation.
基因拷贝数的变化会显著影响生物的适应性。在二倍体中，当一个等位基因缺失时，由于单倍体不足，表型可能会受到影响。在这项工作中，我们从之前的工作中确定了酿酒酵母基因特性与全基因组单倍体不足表型之间的关联。我们将单倍体不足表型与 23 种基因特性进行了比较，发现蛋白质-蛋白质相互作用网络中连接度（度数）较高、遗传相互作用程度较高、基因序列保守性较高和蛋白质表达水平较高的基因更有可能出现单倍体不足。此外，单倍体不足与细胞周期调控和启动子序列保守性呈负相关。
