Lighting up single-nucleotide variation in situ in single cells and tissues.,Chemical Society Reviews

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Lighting up single-nucleotide variation in situ in single cells and tissues.
Chemical Society Reviews ( IF 40.4 ) Pub Date : 2020-02-28 , DOI: 10.1039/c9cs00438f
Kaixiang Zhang ₁ , Ruijie Deng ₂ , Hua Gao ₃ , Xucong Teng ₂ , Jinghong Li ₂

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The ability to 'see' genetic information directly in single cells can provide invaluable insights into complex biological systems. In this review, we discuss recent advances of in situ imaging technologies for visualizing the subtlest sequence alteration, single-nucleotide variation (SNV), at single-cell level. The mechanism of recently developed methods for SNV discrimination are summarized in detail. With recent developments, single-cell SNV imaging methods have opened a new door for studying the heterogenous and stochastic genetic information in individual cells. Furthermore, SNV imaging can be used on morphologically preserved tissue, which can provide information on histological context for gene expression profiling in basic research and genetic diagnosis. Moreover, the ability to visualize SNVs in situ can be further developed into in situ sequencing technology. We expect this review to inspire more research work into in situ SNV imaging technologies for investigating cellular phenotypes and gene regulation at single-nucleotide resolution, and developing new clinical and biomedical applications.

中文翻译：

在单个细胞和组织中原位点亮单核苷酸变异。

直接在单个细胞中“查看”遗传信息的能力可以提供对复杂生物系统的宝贵见解。在这篇综述中，我们讨论了在单细胞水平上可视化最细微的序列改变，单核苷酸变异（SNV）的原位成像技术的最新进展。详细总结了最近开发的SNV判别方法的机制。随着最新的发展，单细胞SNV成像方法为研究单个细胞中的异质和随机遗传信息打开了一扇新门。此外，SNV成像可用于形态保存的组织，可为基础研究和遗传诊断中的基因表达谱提供组织学背景信息。此外，SNV原位可视化的能力可以进一步发展为原位测序技术。我们希望这次审查能激发更多的原位SNV成像技术研究工作，以单核苷酸分辨率研究细胞表型和基因调控，并开发新的临床和生物医学应用。

更新日期：2020-03-24

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