Park Joshua M, Pinski Daniel F, Forsburg Susan L
Section of Molecular & Computational Biology, University of Southern California, Los Angeles, CA 90089, USA.
Genetics. 2025 Jun 4;230(2). doi: 10.1093/genetics/iyaf078.
Whole genome duplication, or polyploidy, has been implicated in driving genome instability and tumorigenesis. Recent studies suggest that polyploidy in tumors promotes cancer genome evolution, progression, and chemoresistance resulting in worse prognosis of survival. The mechanisms by which whole genome duplications confer genome instability are not yet fully understood. In this study, we use Schizosaccharomyces pombe (fission yeast) diploids to investigate how whole genome duplication affects genome maintenance and response to stress. We find that S. pombe diploids are sensitive to replication stress and DNA damage, exhibit high levels of loss of heterozygosity, and become dependent on a group of ploidy-specific lethal genes for viability. These findings are observed in other eukaryotic models suggesting conserved consequences of polyploidy. We further investigate ploidy-specific lethal genes by depleting them using an auxin-inducible degron system to elucidate the mechanisms of genome maintenance in diploids. Overall, this work provides new insights on how whole genome duplications lead to genome instability.
全基因组复制,即多倍体化,被认为与基因组不稳定和肿瘤发生有关。最近的研究表明,肿瘤中的多倍体促进癌症基因组进化、进展和化疗耐药性,导致生存预后更差。全基因组复制导致基因组不稳定的机制尚未完全了解。在本研究中,我们使用粟酒裂殖酵母(裂殖酵母)二倍体来研究全基因组复制如何影响基因组维持和应激反应。我们发现粟酒裂殖酵母二倍体对复制应激和DNA损伤敏感,表现出高水平的杂合性缺失,并变得依赖一组多倍体特异性致死基因来维持生存能力。在其他真核生物模型中也观察到了这些发现,表明多倍体具有保守的后果。我们通过使用生长素诱导的降解系统耗尽多倍体特异性致死基因,进一步研究这些基因,以阐明二倍体中基因组维持的机制。总的来说,这项工作为全基因组复制如何导致基因组不稳定提供了新的见解。