Chou Shih-Jie, Yang Peng, Ban Qian, Yang Yi-Ping, Wang Mong-Lien, Chien Chian-Shiu, Chen Shih-Jen, Sun Na, Zhu Yazhen, Liu Hongtao, Hui Wenqiao, Lin Tai-Chi, Wang Fang, Zhang Ryan Yue, Nguyen Viet Q, Liu Wenfei, Chen Mengxiang, Jonas Steve J, Weiss Paul S, Tseng Hsian-Rong, Chiou Shih-Hwa
Division of Basic Research Department of Medical Research and Department of Ophthalmology Taipei Veterans General Hospital Taipei 112 Taiwan.
Institute of Pharmacology School of Medicine National Yang-Ming University Taipei 112 Taiwan.
Adv Sci (Weinh). 2020 Apr 16;7(10):1903432. doi: 10.1002/advs.201903432. eCollection 2020 May.
The homology-independent targeted integration (HITI) strategy enables effective CRISPR/Cas9-mediated knockin of therapeutic genes in nondividing cells in vivo, promising general therapeutic solutions for treating genetic diseases like X-linked juvenile retinoschisis. Herein, supramolecular nanoparticle (SMNP) vectors are used for codelivery of two DNA plasmids-CRISPR-Cas9 genome-editing system and a therapeutic gene, Retinoschisin 1 (RS1)-enabling clustered regularly interspaced short palindromic repeats (CRISPR)-associated protein 9 (CRISPR/Cas9) knockin of the RS1 gene with HITI. Through small-scale combinatorial screenings, two SMNP vectors, with Cas9 and single guide RNA (sgRNA)-plasmid in one and Donor-RS1 and green fluorescent protein (GFP)-plasmid in the other, with optimal delivery performances are identified. These SMNP vectors are then employed for CRISPR/Cas9 knockin of RS1/GFP genes into the mouse Rosa26 safe-harbor site in vitro and in vivo. The in vivo study involves intravitreally injecting the two SMNP vectors into the mouse eyes, followed by repeated ocular imaging by fundus camera and optical coherence tomography, and pathological and molecular analyses of the harvested retina tissues. Mice ocular organs retain their anatomical integrity, a single-copy 3.0-kb RS1/GFP gene is precisely integrated into the Rosa26 site in the retinas, and the integrated RS1/GFP gene is expressed in the retinas, demonstrating CRISPR/Cas9 knockin of RS1/GFP gene.
同源性无关的靶向整合(HITI)策略能够在体内非分裂细胞中实现有效的CRISPR/Cas9介导的治疗性基因敲入,为治疗诸如X连锁青少年视网膜劈裂症等遗传性疾病提供了通用的治疗方案。在此,超分子纳米颗粒(SMNP)载体用于共递送两种DNA质粒——CRISPR-Cas9基因组编辑系统和治疗性基因视网膜劈裂蛋白1(RS1),从而通过HITI实现RS1基因的成簇规律间隔短回文重复序列(CRISPR)相关蛋白9(CRISPR/Cas9)敲入。通过小规模组合筛选,确定了两种具有最佳递送性能的SMNP载体,一种包含Cas9和单向导RNA(sgRNA)质粒,另一种包含供体-RS1和绿色荧光蛋白(GFP)质粒。然后将这些SMNP载体用于在体外和体内将RS1/GFP基因CRISPR/Cas9敲入小鼠Rosa26安全港位点。体内研究包括将两种SMNP载体玻璃体内注射到小鼠眼中,随后通过眼底相机和光学相干断层扫描进行重复的眼部成像,以及对收获的视网膜组织进行病理和分子分析。小鼠眼部器官保持其解剖完整性,一个单拷贝的3.0-kb RS1/GFP基因精确整合到视网膜的Rosa26位点,并且整合的RS1/GFP基因在视网膜中表达,证明了RS1/GFP基因的CRISPR/Cas9敲入。