染色体骤变及其他:塑造基因组的灾难性事件

Chromoanagenesis and Beyond: Catastrophic Events Shaping the Genome.

作者信息

Pellestor Franck

机构信息

Unit of Chromosomal Genetics and Research Platform Chromostem, Department of Molecular Genetics and Cytogenomics, Site Unique de Biologie (SUB), Montpellier CHU, Montpellier, France.

INSERM 1183 Unit "Genome and Stem Cell Plasticity in Development and Aging" Institute of Regenerative Medicine and Biotherapies, St Eloi Hospital, Montpellier, France.

出版信息

Methods Mol Biol. 2025;2968:65-73. doi: 10.1007/978-1-0716-4750-9_4.

Abstract

The phenomena of chromoanagenesis have profoundly changed our conceptions regarding the genesis and etiology of complex rearrangements. These chaotic genomic events have also led to a better understanding of the mechanisms underlying the maintenance and fluctuations of genomic stability. Chromoanagenesis phenomena are now recognized as important drivers of karyotypic evolution, both in cancer and in developmental disorders. They question the conventional view of gradual evolution, supporting the role of genomic chaos in rapid evolutionary transitions.The advent of new genome sequencing technologies and their use in combination with powerful bioinformatics tools or single-cell analysis techniques have led to a better understanding of the complexity and heterogeneity of chromoanagenesis and to the description of new forms of complex and chaotic genomic rearrangements.

摘要

染色体混乱现象深刻地改变了我们对于复杂重排的发生和病因的认识。这些混乱的基因组事件也使我们对基因组稳定性维持和波动背后的机制有了更好的理解。如今,染色体混乱现象在癌症和发育障碍中均被视为核型进化的重要驱动因素。它们对渐进式进化的传统观点提出了质疑,支持了基因组混乱在快速进化转变中的作用。新的基因组测序技术的出现,以及它们与强大的生物信息学工具或单细胞分析技术的结合使用,使得我们对染色体混乱现象的复杂性和异质性有了更好的理解,并得以描述复杂和混乱的基因组重排的新形式。

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