Department of Chemistry, Key Laboratory of Bioorganic Phosphorus Chemistry & Chemical Biology, Beijing Key Laboratory for Microanalytical Methods and Instrumentation, Tsinghua University, Beijing 100084, China.
Chem Soc Rev. 2020 Mar 23;49(6):1932-1954. doi: 10.1039/c9cs00438f.
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.
直接在单个细胞中“观察”遗传信息的能力，可以为复杂的生物系统提供宝贵的见解。在这篇综述中，我们讨论了最近用于可视化单细胞水平上最细微的序列改变（单核苷酸变异，SNV）的原位成像技术的进展。详细总结了最近开发的用于 SNV 区分的方法的机制。随着最新的发展，单细胞 SNV 成像方法为研究单个细胞中异质和随机遗传信息开辟了新的途径。此外，SNV 成像可用于形态保存的组织，这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，能够在原位可视化 SNVs 可以进一步发展为原位测序技术。我们希望这篇综述能够激发更多关于原位 SNV 成像技术的研究工作，以在单核苷酸分辨率下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。
