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重写调控性DNA以剖析和重新编程基因表达。

Rewriting regulatory DNA to dissect and reprogram gene expression.

作者信息

Martyn Gabriella E, Montgomery Michael T, Jones Hank, Guo Katherine, Doughty Benjamin R, Linder Johannes, Bisht Deepa, Xia Fan, Cai Xiangmeng S, Chen Ziwei, Cochran Kelly, Lawrence Kathryn A, Munson Glen, Pampari Anusri, Fulco Charles P, Sahni Nidhi, Kelley David R, Lander Eric S, Kundaje Anshul, Engreitz Jesse M

机构信息

Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA; Basic Science and Engineering Initiative, Stanford Children's Health, Betty Irene Moore Children's Heart Center, Stanford, CA 94305, USA.

Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.

出版信息

Cell. 2025 Apr 14. doi: 10.1016/j.cell.2025.03.034.

Abstract

Regulatory DNA provides a platform for transcription factor binding to encode cell-type-specific patterns of gene expression. However, the effects and programmability of regulatory DNA sequences remain difficult to map or predict. Here, we develop variant effects from flow-sorting experiments with CRISPR targeting screens (Variant-EFFECTS) to introduce hundreds of designed edits to endogenous regulatory DNA and quantify their effects on gene expression. We systematically dissect and reprogram 3 regulatory elements for 2 genes in 2 cell types. These data reveal endogenous binding sites with effects specific to genomic context, transcription factor motifs with cell-type-specific activities, and limitations of computational models for predicting the effect sizes of variants. We identify small edits that can tune gene expression over a large dynamic range, suggesting new possibilities for prime-editing-based therapeutics targeting regulatory DNA. Variant-EFFECTS provides a generalizable tool to dissect regulatory DNA and to identify genome editing reagents that tune gene expression in an endogenous context.

摘要

调控性DNA为转录因子结合提供了一个平台,以编码细胞类型特异性的基因表达模式。然而,调控性DNA序列的作用和可编程性仍然难以绘制或预测。在这里,我们通过CRISPR靶向筛选的流式分选实验开发了变体效应(Variant-EFFECTS),以对内源性调控性DNA引入数百个设计编辑,并量化它们对基因表达的影响。我们系统地剖析并重新编程了两种细胞类型中两个基因的3个调控元件。这些数据揭示了具有特定于基因组背景效应的内源性结合位点、具有细胞类型特异性活性的转录因子基序,以及预测变体效应大小的计算模型的局限性。我们确定了可以在大动态范围内调节基因表达的小编辑,这为基于碱基编辑的靶向调控性DNA的治疗方法提出了新的可能性。Variant-EFFECTS提供了一个可推广的工具,用于剖析调控性DNA,并识别在内源性环境中调节基因表达的基因组编辑试剂。

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