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染色体组分析

Chromoanasynthesis.

作者信息

Pellestor Franck, Gaillard Jean Baptiste, Ganne Benjamin, Perrin Aurore, Morel Frédéric, Gatinois Vincent

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 Cedex 5, 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;2968:35-51. doi: 10.1007/978-1-0716-4750-9_2.

Abstract

Chromoanasynthesis is a distinct entity within the complex rearrangement phenomena grouped under the name chromoanagenesis. The formation of chromoanasynthesis is linked to defective or interrupted DNA replication, due to various replicative stress factors. Two alternative replication-based mechanisms (FoSTeS and MMBIR) can then act to induce a series of microhomology-dependent templates and switching events before the completion of DNA synthesis on the original template. These mechanisms lead to the formation of clusters of complex chromosome rearrangements, generally characterized by duplications and triplications. Chromoanasynthesis operates in the germline and during early embryonic development through the formation of micronuclei or chromatid bridges during mitotic divisions. The phenomenon has mainly been described in congenital diseases, but more recently cases of chromoanagenesis have been described in cancers.

摘要

染色体综合分析是在以染色体新生命名的复杂重排现象中的一个独特实体。由于各种复制应激因素,染色体综合分析的形成与有缺陷或中断的DNA复制有关。然后,两种基于复制的替代机制(FoSTeS和MMBIR)可以在原始模板上的DNA合成完成之前起作用,诱导一系列微同源性依赖的模板和转换事件。这些机制导致形成复杂染色体重排簇,其一般特征为重复和三倍体化。染色体综合分析通过有丝分裂过程中微核或染色单体桥的形成在生殖系和早期胚胎发育过程中起作用。该现象主要在先天性疾病中被描述,但最近在癌症中也有染色体新生的病例被报道。

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