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人类基因组中的 DNA G-四链体:检测、功能和治疗潜力。

DNA G-quadruplexes in the human genome: detection, functions and therapeutic potential.

机构信息

Cancer Research UK Cambridge Institute, University of Cambridge, Li Ka Shing Centre, Cambridge CB2 0RE, UK.

Department of Chemistry, University of Cambridge, Cambridge CB2 1EW, UK.

出版信息

Nat Rev Mol Cell Biol. 2017 May;18(5):279-284. doi: 10.1038/nrm.2017.3. Epub 2017 Feb 22.

DOI:10.1038/nrm.2017.3
PMID:28225080
Abstract

Single-stranded guanine-rich DNA sequences can fold into four-stranded DNA structures called G-quadruplexes (G4s) that arise from the self-stacking of two or more guanine quartets. There has been considerable recent progress in the detection and mapping of G4 structures in the human genome and in biologically relevant contexts. These advancements, many of which align with predictions made previously in computational studies, provide important new insights into the functions of G4 structures in, for example, the regulation of transcription and genome stability, and uncover their potential relevance for cancer therapy.

摘要

单链富含鸟嘌呤的 DNA 序列可以折叠成四链 DNA 结构,称为 G-四链体 (G4),它是由两个或更多鸟嘌呤四联体的自堆叠形成的。最近在人类基因组中和生物相关环境中检测和绘制 G4 结构方面取得了相当大的进展。这些进展中的许多都与之前在计算研究中做出的预测相吻合,为 G4 结构在转录调控和基因组稳定性等方面的功能提供了重要的新见解,并揭示了它们在癌症治疗中的潜在相关性。

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2
The Werner syndrome RECQ helicase targets G4 DNA in human cells to modulate transcription.沃纳综合征RECQ解旋酶作用于人类细胞中的G4 DNA以调节转录。
Hum Mol Genet. 2016 May 15;25(10):2060-2069. doi: 10.1093/hmg/ddw079. Epub 2016 Mar 16.
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G-quadruplexes and helicases.G-四链体与解旋酶
通过G-四链体的参与深入了解在血流形式和前循环形式中基因表达的表观遗传调控。
NAR Genom Bioinform. 2025 Jul 17;7(3):lqaf100. doi: 10.1093/nargab/lqaf100. eCollection 2025 Sep.
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Landscape and mutational dynamics of G-quadruplexes in the complete human genome and in haplotypes of diverse ancestry.人类全基因组及不同祖先单倍型中G-四链体的景观与突变动态。
bioRxiv. 2025 Jun 25:2025.06.17.660256. doi: 10.1101/2025.06.17.660256.
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Impact of Molecular Crowding on Accessibility of Telomeric Overhangs Forming Multiple G-Quadruplexes.分子拥挤对形成多个G-四链体的端粒悬垂可及性的影响
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Impact of Molecular Crowding on Accessibility of Telomeric Overhangs Forming Multiple G-quadruplexes.分子拥挤对形成多个G-四链体的端粒悬突可及性的影响
bioRxiv. 2025 May 30:2025.05.26.656241. doi: 10.1101/2025.05.26.656241.
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