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可变剪接在体内的影响:小鼠模型指明方向。

The impact of alternative splicing in vivo: mouse models show the way.

作者信息

Möröy Tarik, Heyd Florian

机构信息

Institut de Recherches Cliniques de Montréal, IRCM, Montréal, QC, Canada.

出版信息

RNA. 2007 Aug;13(8):1155-71. doi: 10.1261/rna.554607. Epub 2007 Jun 11.

DOI:10.1261/rna.554607
PMID:17563071
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1924907/
Abstract

Alternative splicing is widely believed to have a major impact on almost all biological processes since it increases proteome complexity and thereby controls protein function. Recently, gene targeting in mice has been used to create in vivo models to study the regulation and consequences of alternative splicing. The evidence accumulated so far argues for a nonredundant, highly specific role of individual splicing factors in mammalian development, and furthermore, demonstrates the importance of distinct protein isoforms in vivo. In this review, we will compare phenotypes of mouse models for alternative splicing to crystallize common themes and to put them into perspective with the available in vitro data.

摘要

人们普遍认为,可变剪接对几乎所有生物过程都有重大影响,因为它增加了蛋白质组的复杂性,从而控制蛋白质功能。最近,小鼠基因靶向技术已被用于创建体内模型,以研究可变剪接的调控及其后果。迄今为止积累的证据表明,单个剪接因子在哺乳动物发育中具有非冗余、高度特异性的作用,此外,还证明了不同蛋白质异构体在体内的重要性。在这篇综述中,我们将比较可变剪接小鼠模型的表型,以梳理出共同主题,并结合现有的体外数据对其进行解读。

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本文引用的文献

1
Network of coregulated spliceosome components revealed by zebrafish mutant in recycling factor p110.回收因子p110中的斑马鱼突变体揭示的共调控剪接体成分网络
Proc Natl Acad Sci U S A. 2007 Apr 17;104(16):6608-13. doi: 10.1073/pnas.0701919104. Epub 2007 Apr 6.
2
Mice deficient for RNA-binding protein brunol1 show reduction of spermatogenesis but are fertile.缺乏RNA结合蛋白brunol1的小鼠精子发生减少,但仍具有生育能力。
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Renal function in mice with targeted disruption of the A isoform of the Na-K-2Cl co-transporter.钠钾氯协同转运蛋白A亚型靶向缺失小鼠的肾功能
J Am Soc Nephrol. 2007 Feb;18(2):440-8. doi: 10.1681/ASN.2006091070. Epub 2007 Jan 10.
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Imaging the alternative silencing of FGFR2 exon IIIb in vivo.体内成像FGFR2外显子IIIb的选择性沉默。
RNA. 2006 Dec;12(12):2073-9. doi: 10.1261/rna.248506. Epub 2006 Oct 26.
5
Diversity of human U2AF splicing factors.人类U2AF剪接因子的多样性。
FEBS J. 2006 Nov;273(21):4807-16. doi: 10.1111/j.1742-4658.2006.05502.x. Epub 2006 Oct 17.
6
Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy.在强直性肌营养不良小鼠多聚(CUG)模型中,肌肉盲蛋白过表达后RNA错义剪接和肌强直的逆转
Proc Natl Acad Sci U S A. 2006 Aug 1;103(31):11748-53. doi: 10.1073/pnas.0604970103. Epub 2006 Jul 24.
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Alternative splicing: new insights from global analyses.可变剪接:全局分析带来的新见解
Cell. 2006 Jul 14;126(1):37-47. doi: 10.1016/j.cell.2006.06.023.
8
Auxiliary splice factor U2AF26 and transcription factor Gfi1 cooperate directly in regulating CD45 alternative splicing.辅助剪接因子U2AF26和转录因子Gfi1在调节CD45可变剪接过程中直接协作。
Nat Immunol. 2006 Aug;7(8):859-67. doi: 10.1038/ni1361. Epub 2006 Jul 2.
9
Macula densa control of renin secretion and preglomerular resistance in mice with selective deletion of the B isoform of the Na,K,2Cl co-transporter.在选择性缺失钠钾氯共转运体B亚型的小鼠中致密斑对肾素分泌和球前阻力的控制
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The connection between splicing and cancer.剪接与癌症之间的联系。
J Cell Sci. 2006 Jul 1;119(Pt 13):2635-41. doi: 10.1242/jcs.03053.