Cirincione Ann, Simpson Danny, Ravisankar Purnima, Solley Sabrina C, Yan Jun, Singh Mona, Adamson Britt
Lewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, NJ 08544, USA.
Present address: Immunology and Microbial Pathogenesis Program, Weill Cornell Graduate School of Medical Sciences, New York, NY 10065, USA.
bioRxiv. 2024 Mar 27:2024.03.25.585978. doi: 10.1101/2024.03.25.585978.
Prime editing installs precise edits into the genome with minimal unwanted byproducts, but low and variable editing efficiencies have complicated application of the approach to high-throughput functional genomics. Leveraging several recent advances, we assembled a prime editing platform capable of high-efficiency substitution editing across a set of engineered prime editing guide RNAs (epegRNAs) and corresponding target sequences (80% median intended editing). Then, using a custom library of 240,000 epegRNAs targeting >17,000 codons with 175 different substitution types, we benchmarked our platform for functional interrogation of small substitution variants (1-3 nucleotides) targeted to essential genes. Resulting data identified negative growth phenotypes for nonsense mutations targeted to ~8,000 codons, and comparing those phenotypes to results from controls demonstrated high specificity. We also observed phenotypes for synonymous mutations that disrupted splice site motifs at 3' exon boundaries. Altogether, we establish and benchmark a high-throughput prime editing approach for functional characterization of genetic variants with simple readouts from multiplexed experiments.
碱基编辑能够以最少的有害副产物在基因组中进行精确编辑,但编辑效率较低且变化不定,这使得该方法在高通量功能基因组学中的应用变得复杂。利用最近的几项进展,我们组装了一个碱基编辑平台,该平台能够通过一组工程化的碱基编辑引导RNA(epegRNAs)和相应的靶序列进行高效替代编辑(中位预期编辑率为80%)。然后,我们使用一个包含240,000个epegRNAs的定制文库,这些epegRNAs靶向超过17,000个密码子,具有175种不同的替代类型,我们对该平台进行了基准测试,以对靶向必需基因的小替代变体(1-3个核苷酸)进行功能研究。所得数据确定了靶向约8,000个密码子的无义突变的负生长表型,并将这些表型与对照结果进行比较,证明了高特异性。我们还观察到同义突变在3'外显子边界破坏剪接位点基序时的表型。总之,我们建立并基准测试了一种高通量碱基编辑方法,用于从多重实验的简单读数中对遗传变体进行功能表征。