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绘制与理解常见脆性位点的新时代：关于染色体脆性起源的最新综述

New Era of Mapping and Understanding Common Fragile Sites: An Updated Review on Origin of Chromosome Fragility.

作者信息

Ji Fang, Zhu Xinli, Liao Hongwei, Ouyang Liujian, Huang Yingfei, Syeda Madiha Zahra, Ying Songmin

机构信息

International Institutes of Medicine, The Fourth Affiliated Hospital of Zhejiang University School of Medicine, Yiwu, China.

Department of Pharmacology and Department of Respiratory and Critical Care Medicine of the Second Affiliated Hospital, Key Laboratory of Respiratory Disease of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, China.

出版信息

Front Genet. 2022 May 20;13:906957. doi: 10.3389/fgene.2022.906957. eCollection 2022.

DOI:10.3389/fgene.2022.906957
PMID:35669181
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9164283/
Abstract

Common fragile sites (CFSs) are specific genomic loci prone to forming gaps or breakages upon replication perturbation, which correlate well with chromosomal rearrangement and copy number variation. CFSs have been actively studied due to their important pathophysiological relevance in different diseases such as cancer and neurological disorders. The genetic locations and sequences of CFSs are crucial to understanding the origin of such unstable sites, which require reliable mapping and characterizing approaches. In this review, we will inspect the evolving techniques for CFSs mapping, especially genome-wide mapping and sequencing of CFSs based on current knowledge of CFSs. We will also revisit the well-established hypotheses on the origin of CFSs fragility, incorporating novel findings from the comprehensive analysis of finely mapped CFSs regarding their locations, sequences, and replication/transcription, etc. This review will present the most up-to-date picture of CFSs and, potentially, a new framework for future research of CFSs.

摘要

常见脆性位点（CFSs）是特定的基因组位点，在复制受到干扰时容易形成间隙或断裂，这与染色体重排和拷贝数变异密切相关。由于CFSs在癌症和神经疾病等不同疾病中具有重要的病理生理相关性，因此一直受到积极研究。CFSs的基因位置和序列对于理解此类不稳定位点的起源至关重要，这需要可靠的定位和表征方法。在本综述中，我们将审视用于CFSs定位的不断发展的技术，特别是基于目前对CFSs的了解进行的全基因组定位和CFSs测序。我们还将重新审视关于CFSs脆性起源的既定假说，并纳入对精细定位的CFSs在其位置、序列和复制/转录等方面进行综合分析的新发现。本综述将呈现CFSs的最新情况，并可能为CFSs的未来研究提供一个新框架。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ada1/9164283/576e717d6432/fgene-13-906957-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ada1/9164283/ea640db35e30/fgene-13-906957-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ada1/9164283/0f5414174739/fgene-13-906957-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ada1/9164283/576e717d6432/fgene-13-906957-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ada1/9164283/ea640db35e30/fgene-13-906957-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ada1/9164283/0f5414174739/fgene-13-906957-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ada1/9164283/576e717d6432/fgene-13-906957-g003.jpg

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3D genome organization contributes to genome instability at fragile sites.三维基因组组织导致脆弱位点的基因组不稳定。
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