The Grainger College of Engineering, Department of Bioengineering, University of Illinois Urbana-Champaign, Urbana, IL, USA.
Carl R. Woese Institute for Genomic Biology, University of Illinois Urbana-Champaign, Urbana, IL, USA.
Nat Commun. 2024 Nov 28;15(1):10354. doi: 10.1038/s41467-024-54529-y.
Exon skipping technologies enable exclusion of targeted exons from mature mRNA transcripts, which have broad applications in medicine and biotechnology. Existing techniques including antisense oligonucleotides, targetable nucleases, and base editors, while effective for specific applications, remain hindered by transient effects, genotoxicity, and inconsistent exon skipping. To overcome these limitations, here we develop SPLICER, a toolbox of next-generation base editors containing near-PAMless Cas9 nickase variants fused to adenosine or cytosine deaminases for the simultaneous editing of splice acceptor (SA) and splice donor (SD) sequences. Synchronized SA and SD editing improves exon skipping, reduces aberrant splicing, and enables skipping of exons refractory to single splice site editing. To demonstrate the therapeutic potential of SPLICER, we target APP exon 17, which encodes amino acids that are cleaved to form Aβ plaques in Alzheimer's disease. SPLICER reduces the formation of Aβ42 peptides in vitro and enables efficient exon skipping in a mouse model of Alzheimer's disease. Overall, SPLICER is a widely applicable and efficient exon skipping toolbox.
外显子跳跃技术可将靶向外显子从成熟的 mRNA 转录本中排除,这在医学和生物技术中有广泛的应用。现有的技术包括反义寡核苷酸、靶向核酸酶和碱基编辑器,虽然在特定应用中有效,但仍受到瞬时效应、遗传毒性和不一致的外显子跳跃的限制。为了克服这些限制,我们在这里开发了 SPLICER,这是一个包含近无 PAM 的 Cas9 切口酶变体与腺苷或胞嘧啶脱氨酶融合的下一代碱基编辑器工具包,用于同时编辑剪接受体(SA)和剪接供体(SD)序列。同步的 SA 和 SD 编辑可提高外显子跳跃,减少异常剪接,并使对单个剪接位点编辑有抗性的外显子能够跳跃。为了证明 SPLICER 的治疗潜力,我们靶向 APP 外显子 17,其编码的氨基酸在阿尔茨海默病中被切割形成 Aβ 斑块。SPLICER 减少了体外 Aβ42 肽的形成,并在阿尔茨海默病的小鼠模型中有效地实现了外显子跳跃。总的来说,SPLICER 是一个广泛适用且高效的外显子跳跃工具包。