一个motif首选腺嘌呤碱基编辑器与最小的旁观者和脱靶编辑。

IF 15.7 1区 综合性期刊 Q1 MULTIDISCIPLINARY SCIENCES
Mengyu Shang, Yinuo Li, Qiuyu Cao, Jingxuan Ren, Yuqiang Zeng, Jinxin Wang, Rachel V L Gonzalez, Xiaohui Zhang
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引用次数: 0

摘要

47%的遗传性疾病是由单个C•g到t•A碱基转换引起的,这意味着高效的A-to- g碱基编辑工具(ABEs)在治疗这些疾病方面具有巨大的潜力。然而,现有高效的abe在催化靶向A-to- g转化的同时,会引起高A或C旁观者编辑和脱靶事件,这给其临床应用带来了安全性问题。为了克服这一缺点,我们通过面向结构的合理设计,开发了ab8e -YA (ab8e + TadA-8e + A48E),以YAY b> YAR (Y = T或C, R = A或G)层次高效准确地编辑YA基序中的As。与目前唯一具有YAC基序偏好的ABE版本ABE3.1相比,ABE8e-YA显示出a -to- g编辑效率的平均提高,最高可达3.1倍,同时保持较少的旁观者C编辑和最小化的DNA或RNA脱靶。此外,我们还证明了ABE8e- ya能够有效和精确地纠正人类细胞中的致病性突变,表明它对9.3%的致病性点突变具有很高的适应性,高于ABE8e和ABE9。此外,通过使用ABE8e-YA,我们高效、精确地生成了模拟人类相关疾病的低胆固醇血症和尾巴缺失小鼠模型,并在体内进行了用于高胆固醇血症基因治疗的小鼠蛋白转化酶枯草素/kexin 9型(Pcsk9)碱基编辑。这些数据表明它在疾病建模和基因治疗的广泛应用方面具有巨大的潜力。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A motif preferred adenine base editor with minimal bystander and off-targets editing.

47% of hereditable diseases are caused by single C•G-to-T•A base conversions, which means efficient A-to-G base editing tools (ABEs) have great potential for the treatment of these diseases. However, the existing efficient ABEs, while catalyzing targeted A-to-G conversion, cause high A or C bystander editing and off-target events, which poses safety concerns for their clinical applications. To overcome this shortcoming, we have developed ABE8e-YA (ABE8e with TadA-8e A48E) for efficient and accurate editing of As in YA motifs with YAY > YAR (Y = T or C, R = A or G) hierarchy through structure-oriented rational design. Compared with ABE3.1, which is currently the only ABE version with a YAC motif preference, ABE8e-YA exhibits an average A-to-G editing efficiency improvement of an up to 3.1-fold increase in the indicated YA motif while maintaining reduced bystander C editing and minimized DNA or RNA off-targets. Additionally, we demonstrate that ABE8e-YA efficiently and precisely corrects pathogenic mutations in human cells, suggesting its high suitability for addressing 9.3% of pathogenic point mutations, higher than that of ABE8e and ABE9. Moreover, by using ABE8e-YA, we efficiently and precisely generate hypocholesterolemia and tail-loss mouse models mimicking human-associated disease, as well as performed in vivo mouse proprotein convertase subtilisin/kexin type 9 (Pcsk9) base editing for hypercholesterolemia gene therapy. Together these data indicate its great potential in broad applications for disease modeling and gene therapy.

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来源期刊
Nature Communications
Nature Communications Biological Science Disciplines-
CiteScore
24.90
自引率
2.40%
发文量
6928
审稿时长
3.7 months
期刊介绍: Nature Communications, an open-access journal, publishes high-quality research spanning all areas of the natural sciences. Papers featured in the journal showcase significant advances relevant to specialists in each respective field. With a 2-year impact factor of 16.6 (2022) and a median time of 8 days from submission to the first editorial decision, Nature Communications is committed to rapid dissemination of research findings. As a multidisciplinary journal, it welcomes contributions from biological, health, physical, chemical, Earth, social, mathematical, applied, and engineering sciences, aiming to highlight important breakthroughs within each domain.
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