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通过饱和基因组编辑剖析数量性状核苷酸

Dissecting quantitative trait nucleotides by saturation genome editing.

作者信息

Roy Kevin R, Smith Justin D, Li Shengdi, Vonesch Sibylle C, Nguyen Michelle, Burnett Wallace T, Orsley Kevin M, Lee Cheng-Sheng, Haber James E, St Onge Robert P, Steinmetz Lars M

机构信息

Stanford Genome Technology Center, Stanford University, Palo Alto, California, USA.

Department of Genetics, Stanford University School of Medicine, Stanford, California, USA.

出版信息

bioRxiv. 2024 Feb 2:2024.02.02.577784. doi: 10.1101/2024.02.02.577784.

Abstract

Genome editing technologies have the potential to transform our understanding of how genetic variation gives rise to complex traits through the systematic engineering and phenotypic characterization of genetic variants. However, there has yet to be a system with sufficient efficiency, fidelity, and throughput to comprehensively identify causal variants at the genome scale. Here we explored the ability of templated CRISPR editing systems to install natural variants genome-wide in budding yeast. We optimized several approaches to enhance homology-directed repair (HDR) with donor DNA templates, including donor recruitment to target sites, single-stranded donor production by bacterial retrons, and in vivo plasmid assembly. We uncovered unique advantages of each system that we integrated into a single superior system named MAGESTIC 3.0. We used MAGESTIC 3.0 to dissect causal variants residing in 112 quantitative trait loci across 32 environmental conditions, revealing an enrichment for missense variants and loci with multiple causal variants. MAGESTIC 3.0 will facilitate the functional analysis of the genome at single-nucleotide resolution and provides a roadmap for improving template-based genome editing systems in other organisms.

摘要

基因组编辑技术有潜力改变我们对于遗传变异如何通过遗传变异体的系统工程和表型特征分析产生复杂性状的理解。然而,目前尚未有一个具备足够效率、保真度和通量的系统能够在基因组规模上全面鉴定因果变异体。在此,我们探索了模板化CRISPR编辑系统在芽殖酵母中全基因组安装天然变异体的能力。我们优化了几种方法来增强利用供体DNA模板的同源定向修复(HDR),包括将供体招募到靶位点、利用细菌逆转录子产生单链供体以及体内质粒组装。我们发现了每个系统的独特优势,并将其整合到一个名为MAGESTIC 3.0的单一高级系统中。我们使用MAGESTIC 3.0剖析了在32种环境条件下位于112个数量性状位点中的因果变异体,揭示了错义变异体和具有多个因果变异体的位点的富集情况。MAGESTIC 3.0将有助于在单核苷酸分辨率下对基因组进行功能分析,并为改进其他生物体中基于模板的基因组编辑系统提供路线图。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2a0f/10862795/18132a992aeb/nihpp-2024.02.02.577784v1-f0001.jpg

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