During gametogenesis, the human genome can acquire various de novo rearrangements. Most constitutional genomic rearrangements are created through 1 of the 4 well-known mechanisms, i.e., nonallelic homologous recombination, erroneous repair after double-strand DNA breaks, replication errors, and retrotransposition. However, recent studies have identified 2 types of extremely complex rearrangements that cannot be simply explained by these mechanisms. The first type consists of chaotic structural changes in 1 or a few chromosomes that result from “chromoanagenesis (an umbrella term that covers chromothripsis, chromoanasynthesis, and chromoplexy).” The other type is large independent rearrangements in multiple chromosomes indicative of “transient multifocal genomic crisis.” Germline chromoanagenesis (chromothripsis) likely occurs predominantly during spermatogenesis or postzygotic embryogenesis, while multifocal genomic crisis appears to be limited to a specific time window during oogenesis and early embryogenesis or during spermatogenesis. This review article introduces the current understanding of the molecular basis of de novo rearrangements in the germline.

中文翻译：

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导致人类生殖系从头基因组重排的既定和新颖机制

在配子发生过程中，人类基因组可以获得各种从头重排。大多数组成性基因组重排是通过 4 种众所周知的机制中的一种产生的，即非等位基因同源重组、双链 DNA 断裂后的错误修复、复制错误和逆转录转座。然而，最近的研究已经确定了两种类型的极其复杂的重排，这些重排不能简单地用这些机制来解释。第一种类型包括一条或几条染色体的无序结构变化，这些变化是由“染色体发生（一个涵盖染色体碎裂、染色体合成和染色体复杂性的总称）”引起的。另一种类型是多条染色体中的大型独立重排，表明“暂时性多焦点基因组危机”。”生殖系染色体发生（chromothripsis）可能主要发生在精子发生或合子后胚胎发生期间，而多灶基因组危机似乎仅限于卵子发生和早期胚胎发生期间或精子发生期间的特定时间窗口。这篇综述文章介绍了目前对生殖系中从头重排的分子基础的理解。