Yan Hao, Tang Weixin
Department of Chemistry, University of Chicago, Chicago, IL, USA.
Institute for Biophysical Dynamics, University of Chicago, Chicago, IL, USA.
Nat Chem Biol. 2024 Oct;20(10):1361-1370. doi: 10.1038/s41589-024-01661-x. Epub 2024 Jul 5.
Programmed RNA editing presents an attractive therapeutic strategy for genetic disease. In this study, we developed bacterial deaminase-enabled recoding of RNA (DECOR), which employs an evolved Escherichia coli transfer RNA adenosine deaminase, TadA8e, to deposit adenosine-to-inosine editing to CRISPR-specified sites in the human transcriptome. DECOR functions in a variety of cell types, including human lung fibroblasts, and delivers on-target activity similar to ADAR-overexpressing RNA-editing platforms with 88% lower off-target effects. High-fidelity DECOR further reduces off-target effects to basal level. We demonstrate the clinical potential of DECOR by targeting Van der Woude syndrome-causing interferon regulatory factor 6 (IRF6) insufficiency. DECOR-mediated RNA editing removes a pathogenic upstream open reading frame (uORF) from the 5' untranslated region of IRF6 and rescues primary ORF expression from 12.3% to 36.5%, relative to healthy transcripts. DECOR expands the current portfolio of effector proteins and opens new territory in programmed RNA editing.
程序化RNA编辑为遗传疾病提供了一种有吸引力的治疗策略。在本研究中,我们开发了细菌脱氨酶介导的RNA重新编码(DECOR),它利用进化后的大肠杆菌转移RNA腺苷脱氨酶TadA8e,将腺苷到肌苷的编辑引入人类转录组中CRISPR指定的位点。DECOR在多种细胞类型中发挥作用,包括人肺成纤维细胞,并能产生与过表达ADAR的RNA编辑平台相似的靶向活性,脱靶效应降低88%。高保真DECOR进一步将脱靶效应降低到基础水平。我们通过靶向导致范德伍德综合征的干扰素调节因子6(IRF6)功能不足,证明了DECOR的临床潜力。DECOR介导的RNA编辑从IRF6的5'非翻译区去除了一个致病的上游开放阅读框(uORF),并将主要开放阅读框的表达相对于健康转录本从12.3%恢复到36.5%。DECOR扩展了当前的效应蛋白组合,并在程序化RNA编辑领域开辟了新的天地。