Department of Chemistry and Research Institute for Convergence of Basic Sciences, Hanyang University, Seoul 08826, South Korea.
Nucleic Acids Res. 2022 Jan 25;50(2):1187-1197. doi: 10.1093/nar/gkab1295.
Prime editing is a versatile and precise genome editing technique that can directly copy desired genetic modifications into target DNA sites without the need for donor DNA. This technique holds great promise for the analysis of gene function, disease modeling, and the correction of pathogenic mutations in clinically relevant cells such as human pluripotent stem cells (hPSCs). Here, we comprehensively tested prime editing in hPSCs by generating a doxycycline-inducible prime editing platform. Prime editing successfully induced all types of nucleotide substitutions and small insertions and deletions, similar to observations in other human cell types. Moreover, we compared prime editing and base editing for correcting a disease-related mutation in induced pluripotent stem cells derived form a patient with α 1-antitrypsin (A1AT) deficiency. Finally, whole-genome sequencing showed that, unlike the cytidine deaminase domain of cytosine base editors, the reverse transcriptase domain of a prime editor does not lead to guide RNA-independent off-target mutations in the genome. Our results demonstrate that prime editing in hPSCs has great potential for complementing previously developed CRISPR genome editing tools.
碱基编辑是一种精确的基因编辑技术,能够在不依赖供体 DNA 的情况下,直接将所需的遗传修饰复制到目标 DNA 位点。这项技术在分析基因功能、疾病建模以及纠正与临床相关的细胞(如人类多能干细胞(hPSCs))中的致病突变方面具有很大的潜力。在这里,我们通过生成一种强力霉素诱导的碱基编辑平台,全面测试了 hPSCs 中的碱基编辑。碱基编辑成功地诱导了所有类型的核苷酸取代和小插入和缺失,与在其他人类细胞类型中的观察结果相似。此外,我们比较了碱基编辑和碱基编辑在纠正源自 α1-抗胰蛋白酶(A1AT)缺乏症患者的诱导多能干细胞中的疾病相关突变方面的效果。最后,全基因组测序表明,与胞嘧啶碱基编辑器的胞嘧啶脱氨酶结构域不同,碱基编辑器的逆转录酶结构域不会导致指导 RNA 非依赖性的基因组脱靶突变。我们的结果表明,hPSCs 中的碱基编辑在补充先前开发的 CRISPR 基因组编辑工具方面具有巨大的潜力。