Reautschnig Philipp, Fruhner Carolin, Wahn Nicolai, Wiegand Charlotte P, Kragness Sabrina, Yung John F, Hofacker Daniel T, Fisk Jenna, Eidelman Michelle, Waffenschmidt Nils, Feige Maximilian, Pfeiffer Laura S, Schulz Annika E, Füll Yvonne, Levanon Erez Y, Mandel Gail, Stafforst Thorsten
Interfaculty Institute of Biochemistry, Faculty of Science, University of Tübingen, Tübingen, Germany.
Vollum Institute, Oregon Health and Science University, Portland, OR, USA.
Nat Biotechnol. 2025 Apr;43(4):545-557. doi: 10.1038/s41587-024-02313-0. Epub 2024 Jul 12.
Recruiting the endogenous editing enzyme adenosine deaminase acting on RNA (ADAR) with tailored guide RNAs for adenosine-to-inosine (A-to-I) RNA base editing is promising for safely manipulating genetic information at the RNA level. However, the precision and efficiency of editing are often compromised by bystander off-target editing. Here, we find that in 5'-UAN triplets, which dominate bystander editing, G•U wobble base pairs effectively mitigate off-target events while maintaining high on-target efficiency. This strategy is universally applicable to existing A-to-I RNA base-editing systems and complements other suppression methods such as G•A mismatches and uridine (U) depletion. Combining wobble base pairing with a circularized format of the CLUSTER approach achieves highly precise and efficient editing (up to 87%) of a disease-relevant mutation in the Mecp2 transcript in cell culture. Virus-mediated delivery of the guide RNA alone realizes functional MeCP2 protein restoration in the central nervous system of a murine Rett syndrome model with editing yields of up to 19% and excellent bystander control in vivo.
利用定制的引导RNA招募内源性编辑酶作用于RNA的腺苷脱氨酶(ADAR),进行腺苷到肌苷(A到I)的RNA碱基编辑,有望在RNA水平安全地操纵遗传信息。然而,编辑的精度和效率常常受到旁观者脱靶编辑的影响。在这里,我们发现,在主导旁观者编辑的5'-UAN三联体中,G•U摆动碱基对能有效减少脱靶事件,同时保持较高的靶向效率。该策略普遍适用于现有的A到I RNA碱基编辑系统,并补充了其他抑制方法,如G•A错配和尿苷(U)耗竭。将摆动碱基对与CLUSTER方法的环化形式相结合,可在细胞培养中对Mecp2转录本中与疾病相关的突变实现高精度和高效编辑(高达87%)。单独通过病毒介导递送引导RNA,可在小鼠雷特综合征模型的中枢神经系统中实现功能性MeCP2蛋白的恢复,体内编辑效率高达19%,且对旁观者有出色的控制效果。