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染色体混乱:宏观进化场景的一部分。

Chromoanagenesis: a piece of the macroevolution scenario.

作者信息

Pellestor Franck, Gatinois Vincent

机构信息

Unit of Chromosomal Genetics, Department of Medical Genetics, Arnaud de Villeneuve Hospital, Montpellier CHRU, 371 avenue du Doyen Gaston Giraud, 34295 Montpellier Cedex 5, France.

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

出版信息

Mol Cytogenet. 2020 Jan 28;13:3. doi: 10.1186/s13039-020-0470-0. eCollection 2020.

Abstract

Over the last decade, new types of massive and complex chromosomal rearrangements based on the chaotic shattering and restructuring of chromosomes have been identified in cancer cells as well as in patients with congenital diseases and healthy individuals. These unanticipated phenomena are named chromothripsis, chromoanasynthesis and chromoplexy, and are grouped under the term of chromoanagenesis. As mechanisms for rapid and profound genome modifications in germlines and early development, these processes can be regarded as credible pathways for genomic evolution and speciation process. Their discovery confirms the importance of genome-centric investigations to fully understand organismal evolution. Because they oppose the model of progressive acquisition of driver mutations or rearrangements, these phenomena conceptually give support to the concept of macroevolution, known through the models of "Hopeful Monsters" and the "Punctuated Equilibrium". In this review, we summarize mechanisms underlying chromoanagenesis processes and we show that numerous cases of chromosomal speciation and short-term adaptation could be correlated to chromoanagenesis-related mechanisms. In the frame of a modern and integrative analysis of eukaryote evolutionary processes, it seems important to consider the unexpected chromoanagenesis phenomena.

摘要

在过去十年中,基于染色体的混乱破碎和重组而产生的新型大规模复杂染色体重排已在癌细胞、先天性疾病患者以及健康个体中被发现。这些意外现象被命名为染色体碎裂、染色体合成异常和染色体纠缠,并被归为染色体发生异常这一术语之下。作为种系和早期发育中快速而深刻的基因组修饰机制,这些过程可被视为基因组进化和物种形成过程的可靠途径。它们的发现证实了以基因组为中心的研究对于全面理解生物进化的重要性。由于它们与驱动突变或重排的渐进获得模型相悖,这些现象在概念上支持了通过“有希望的怪物”和“间断平衡”模型而为人所知的宏观进化概念。在本综述中,我们总结了染色体发生异常过程的潜在机制,并表明许多染色体物种形成和短期适应的案例可能与染色体发生异常相关机制有关。在对真核生物进化过程进行现代综合分析的框架下,考虑这些意外的染色体发生异常现象似乎很重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7cd7/6988253/0aba9bda3a35/13039_2020_470_Fig1_HTML.jpg

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