The rates and patterns by which cells acquire mutations profoundly shape their evolutionary trajectories and phenotypic potential. Conventional models maintain that mutations are acquired independently of one another over many successive generations. Yet, recent evidence suggests that cells can also experience mutagenic processes that drive rapid genome evolution. One such process manifests as punctuated bursts of genomic instability, in which multiple new mutations are acquired simultaneously during transient episodes of genomic instability. This mutational mode is reminiscent of the theory of punctuated equilibrium, proposed by Stephen Jay Gould and Niles Eldredge in 1972 to explain the burst-like appearance of new species in the fossil record. In this review, we survey the dominant and emerging theories of eukaryotic genome evolution with a particular focus on the growing body of work that substantiates the existence and importance of punctuated bursts of genomic instability. In addition, we summarize and discuss two recent studies from our own group, the results of which indicate that punctuated bursts systemic genomic instability (SGI) can rapidly reconfigure the structure of the diploid genome of Saccharomyces cerevisiae.

细胞获得突变的速率和模式深刻地塑造了它们的进化轨迹和表型潜力。传统模型认为，突变是在许多连续世代中相互独立获得的。然而，最近的证据表明，细胞也可能经历驱动基因组快速进化的诱变过程。其中一个过程表现为基因组不稳定的间断爆发，其中在基因组不稳定的短暂发作期间同时获得多个新突变。这种突变模式让人想起间断平衡理论，该理论由斯蒂芬·杰伊·古尔德和奈尔斯·埃尔德雷奇于 1972 年提出，用于解释化石记录中新物种的爆发式出现。在这篇综述中，我们调查了真核基因组进化的主流和新兴理论，特别关注越来越多的工作，这些工作证实了间断的基因组不稳定性爆发的存在和重要性。此外，我们总结并讨论了我们小组最近的两项研究，其结果表明间断爆发系统基因组不稳定性（SGI）可以快速重新配置酿酒酵母二倍体基因组的结构。