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小分子靶向 RNA 进行特定剪接纠正的结构基础。

Structural basis of a small molecule targeting RNA for a specific splicing correction.

机构信息

Department of Biology, Institute of Molecular Biology and Biophysics, ETH Zurich, Zurich, Switzerland.

Biomolecular NMR Spectroscopy Platform, ETH Zurich, Zurich, Switzerland.

出版信息

Nat Chem Biol. 2019 Dec;15(12):1191-1198. doi: 10.1038/s41589-019-0384-5. Epub 2019 Oct 21.

Abstract

Splicing modifiers promoting SMN2 exon 7 inclusion have the potential to treat spinal muscular atrophy, the leading genetic cause of infantile death. These small molecules are SMN2 exon 7 selective and act during the early stages of spliceosome assembly. Here, we show at atomic resolution how the drug selectively promotes the recognition of the weak 5' splice site of SMN2 exon 7 by U1 snRNP. The solution structure of the RNA duplex formed following 5' splice site recognition in the presence of the splicing modifier revealed that the drug specifically stabilizes a bulged adenine at this exon-intron junction and converts the weak 5' splice site of SMN2 exon 7 into a stronger one. The small molecule acts as a specific splicing enhancer cooperatively with the splicing regulatory network. Our investigations uncovered a novel concept for gene-specific alternative splicing correction that we coined 5' splice site bulge repair.

摘要

剪接修饰物促进 SMN2 外显子 7 的包含,具有治疗脊髓性肌萎缩症(导致婴儿死亡的主要遗传原因)的潜力。这些小分子是 SMN2 外显子 7 的选择性剪接调节剂,在剪接体组装的早期阶段发挥作用。在这里,我们以原子分辨率展示了药物如何选择性地促进 U1 snRNP 识别 SMN2 外显子 7 的弱 5' 剪接位点。在剪接调节剂存在的情况下,5' 剪接位点识别后形成的 RNA 双链体的溶液结构表明,该药物特异性稳定了该外显子-内含子交界处的膨出腺嘌呤,并将 SMN2 外显子 7 的弱 5' 剪接位点转变为更强的剪接位点。该小分子与剪接调控网络协同作用,充当特定的剪接增强剂。我们的研究揭示了一种新的基因特异性可变剪接纠正概念,我们称之为 5' 剪接位点膨出修复。

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