染色体重排-遗传学的爆炸。

Department of Intracellular Signaling and Transport, Institute of Cytology, Russian Academy of Sciences, Tikhoretskay Ave 4, 194064 St. Petersburg, Russia.

Cells. 2021 May 4;10(5):1102. doi: 10.3390/cells10051102.

Chromothripsis has been defined as complex patterns of alternating genes copy number changes (normal, gain or loss) along the length of a chromosome or chromosome segment (International System for Human Cytogenomic Nomenclature 2020). The phenomenon of chromothripsis was discovered in 2011 and changed the concept of genome variability, mechanisms of oncogenic transformation, and hereditary diseases. This review describes the phenomenon of chromothripsis, its prevalence in genomes, the mechanisms underlying this phenomenon, and methods of its detection. Due to the fact that most often the phenomenon of chromothripsis occurs in cancer cells, in this review, we will separately discuss the issue of the contribution of chromothripsis to the process of oncogenesis.

染色体重排被定义为染色体或染色体片段上的基因拷贝数变化（正常、增益或缺失）的复杂模式（国际人类细胞遗传学命名系统 2020 年）。染色体重排现象于 2011 年被发现，改变了基因组变异性、致癌转化机制和遗传性疾病的概念。本综述描述了染色体重排现象、其在基因组中的普遍性、该现象背后的机制以及检测方法。由于染色体重排现象通常发生在癌细胞中，因此在本综述中，我们将分别讨论染色体重排对癌变过程的贡献问题。