可变剪接作为发育和组织特性的调节因子。
Alternative splicing as a regulator of development and tissue identity.
作者信息
Baralle Francisco E, Giudice Jimena
机构信息
International Centre for Genetic Engineering and Biotechnology (ICGEB), Padriciano 99, Trieste 34149, Italy.
Department of Cell Biology and Physiology, School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
出版信息
Nat Rev Mol Cell Biol. 2017 Jul;18(7):437-451. doi: 10.1038/nrm.2017.27. Epub 2017 May 10.
Abstract
Alternative splicing of eukaryotic transcripts is a mechanism that enables cells to generate vast protein diversity from a limited number of genes. The mechanisms and outcomes of alternative splicing of individual transcripts are relatively well understood, and recent efforts have been directed towards studying splicing networks. It has become apparent that coordinated splicing networks regulate tissue and organ development, and that alternative splicing has important physiological functions in different developmental processes in humans.
摘要
真核生物转录本的可变剪接是一种机制，它使细胞能够从有限数量的基因中产生大量的蛋白质多样性。单个转录本可变剪接的机制和结果相对已得到较好的理解，并且最近的研究工作已转向对剪接网络的研究。已经很明显，协调的剪接网络调节组织和器官的发育，并且可变剪接在人类不同的发育过程中具有重要的生理功能。
相似文献
1
Alternative splicing as a regulator of development and tissue identity.可变剪接作为发育和组织特性的调节因子。
Nat Rev Mol Cell Biol. 2017 Jul;18(7):437-451. doi: 10.1038/nrm.2017.27. Epub 2017 May 10.
2
Conserved developmental alternative splicing of muscleblind-like (MBNL) transcripts regulates MBNL localization and activity.肌肉盲样蛋白（MBNL）转录本的保守发育性可变剪接调节 MBNL 的定位和活性。
RNA Biol. 2010 Jan-Feb;7(1):43-55. doi: 10.4161/rna.7.1.10401. Epub 2010 Jan 21.
3
Neuronal proteins custom designed by alternative splicing.通过可变剪接定制设计的神经元蛋白。
Curr Opin Neurobiol. 2005 Jun;15(3):358-63. doi: 10.1016/j.conb.2005.04.002.
4
Regulation of alternative splicing by signal transduction pathways.信号转导通路对可变剪接的调控。
Adv Exp Med Biol. 2007;623:161-74. doi: 10.1007/978-0-387-77374-2_10.
5
Sex, AGility, and the regulation of alternative splicing.性别、灵活性与可变剪接的调控
Cell. 2002 May 17;109(4):409-12. doi: 10.1016/s0092-8674(02)00750-x.
6
Differential splicing, disease and drug targets.差异剪接、疾病与药物靶点。
Infect Disord Drug Targets. 2008 Dec;8(4):241-51. doi: 10.2174/187152608786734188.
7
Alternative mRNA splicing of G protein-coupled receptors.G蛋白偶联受体的可变mRNA剪接
Methods Enzymol. 2013;520:323-35. doi: 10.1016/B978-0-12-391861-1.00015-0.
8
Alternative splicing in disease.疾病中的可变剪接
Adv Exp Med Biol. 2007;623:212-23. doi: 10.1007/978-0-387-77374-2_13.
9
Alternative Splicing Regulatory Networks: Functions, Mechanisms, and Evolution.可变剪接调控网络：功能、机制与演化。
Mol Cell. 2019 Oct 17;76(2):329-345. doi: 10.1016/j.molcel.2019.09.017.
10
Alternative mRNA polyadenylation in eukaryotes: an effective regulator of gene expression.真核生物中替代的 mRNA 多聚腺苷酸化：基因表达的有效调控者。
Wiley Interdiscip Rev RNA. 2011 Jan-Feb;2(1):22-31. doi: 10.1002/wrna.47. Epub 2010 Sep 20.
引用本文的文献
1
Alternative Splicing of Serum Response Factor Reveals Isoform-Specific Remodeling in Cardiac Diseases.血清反应因子的可变剪接揭示了心脏疾病中特定亚型的重塑。
Genes (Basel). 2025 Aug 11;16(8):947. doi: 10.3390/genes16080947.
2
Regulation of RNA splicing in endometrial tissue and its association with endometriosis.子宫内膜组织中RNA剪接的调控及其与子宫内膜异位症的关联。
iScience. 2025 Jul 24;28(9):113207. doi: 10.1016/j.isci.2025.113207. eCollection 2025 Sep 19.
3
Alternative Splicing of Exon 23a in Neurofibromatosis Type 1 Pre-mRNA: Its Contribution to the Protein Structure and Function of Neurofibromin.1型神经纤维瘤病前体mRNA中外显子23a的可变剪接：其对神经纤维瘤蛋白的蛋白质结构和功能的贡献
Wiley Interdiscip Rev RNA. 2025 Jul-Aug;16(4):e70021. doi: 10.1002/wrna.70021.
4
NXF1 suppresses progression of endometrial cancer by interacting with the SRSF3 to regulate SP4 splicing.NXF1通过与SRSF3相互作用来调节SP4剪接，从而抑制子宫内膜癌的进展。
iScience. 2025 Jul 22;28(8):113113. doi: 10.1016/j.isci.2025.113113. eCollection 2025 Aug 15.
5
Core splicing architecture and early spliceosomal recognition determine microexon sensitivity to SRRM3/4.核心剪接结构和早期剪接体识别决定微小外显子对SRRM3/4的敏感性。
Nat Struct Mol Biol. 2025 Aug 7. doi: 10.1038/s41594-025-01634-1.
6
Functional Differences Between SIRPα Splice Isoforms.信号调节蛋白α剪接异构体之间的功能差异
Genes Cells. 2025 Sep;30(5):e70041. doi: 10.1111/gtc.70041.
7
Disrupted Alternative Splicing of RAB11FIP3 Contributes to Diabetic Foot Ulcer Dysfunction.RAB11FIP3可变剪接异常导致糖尿病足溃疡功能障碍。
J Cell Mol Med. 2025 Aug;29(15):e70663. doi: 10.1111/jcmm.70663.
8
Selecting differential splicing methods: Practical considerations for short-read RNA sequencing.选择差异剪接方法：短读长RNA测序的实际考量
F1000Res. 2025 May 30;14:47. doi: 10.12688/f1000research.155223.2. eCollection 2025.
9
Long-read RNA-sequencing reveals transcript-specific regulation in human-derived cortical neurons.长读长RNA测序揭示了人源皮质神经元中特定转录本的调控机制。
Open Biol. 2025 Jul;15(7):250200. doi: 10.1098/rsob.250200. Epub 2025 Jul 30.
10
Cas13d-mediated isoform-specific RNA knockdown with a unified computational and experimental toolbox.利用统一的计算和实验工具箱实现Cas13d介导的异构体特异性RNA敲低。
Nat Commun. 2025 Jul 29;16(1):6948. doi: 10.1038/s41467-025-62066-5.
本文引用的文献
1
Exploiting the CRISPR/Cas9 system to study alternative splicing in vivo: application to titin.利用CRISPR/Cas9系统在体内研究可变剪接：应用于肌联蛋白
Hum Mol Genet. 2016 Oct 15;25(20):4518-4532. doi: 10.1093/hmg/ddw280.
2
EMT and stemness: flexible processes tuned by alternative splicing in development and cancer progression.上皮-间质转化与干性：在发育和癌症进展中由可变剪接调节的灵活过程
Mol Cancer. 2017 Jan 30;16(1):8. doi: 10.1186/s12943-016-0579-2.
3
RNA splicing during terminal erythropoiesis.终末红细胞生成过程中的RNA剪接
Curr Opin Hematol. 2017 May;24(3):215-221. doi: 10.1097/MOH.0000000000000329.
4
Tau Isoforms Imbalance Impairs the Axonal Transport of the Amyloid Precursor Protein in Human Neurons.tau蛋白异构体失衡损害人类神经元中淀粉样前体蛋白的轴突运输。
J Neurosci. 2017 Jan 4;37(1):58-69. doi: 10.1523/JNEUROSCI.2305-16.2016.
5
Alternative Splicing of Four Trafficking Genes Regulates Myofiber Structure and Skeletal Muscle Physiology.四个转运基因的可变剪接调节肌纤维结构和骨骼肌生理学。
Cell Rep. 2016 Nov 15;17(8):1923-1933. doi: 10.1016/j.celrep.2016.10.072.
6
MRG15 is required for pre-mRNA splicing and spermatogenesis.前体mRNA剪接和精子发生需要MRG15。
Proc Natl Acad Sci U S A. 2016 Sep 13;113(37):E5408-15. doi: 10.1073/pnas.1611995113. Epub 2016 Aug 29.
7
Cell-Type-Specific Alternative Splicing Governs Cell Fate in the Developing Cerebral Cortex.细胞类型特异性可变剪接调控发育中的大脑皮层中的细胞命运。
Cell. 2016 Aug 25;166(5):1147-1162.e15. doi: 10.1016/j.cell.2016.07.025.
8
A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism.RNA 结合蛋白 20 的谷氨酸丰富区的突变通过肌联蛋白的错剪接和弗兰克-斯塔尔机制受损导致扩张型心肌病。
Cardiovasc Res. 2016 Oct;112(1):452-63. doi: 10.1093/cvr/cvw192. Epub 2016 Aug 5.
9
Global intron retention mediated gene regulation during CD4+ T cell activation.CD4+ T细胞激活过程中由全局内含子保留介导的基因调控。
Nucleic Acids Res. 2016 Aug 19;44(14):6817-29. doi: 10.1093/nar/gkw591. Epub 2016 Jul 1.
10
The alternative splicing program of differentiated smooth muscle cells involves concerted non-productive splicing of post-transcriptional regulators.分化的平滑肌细胞的可变剪接程序涉及转录后调节因子的协同非生产性剪接。
Nucleic Acids Res. 2016 Oct 14;44(18):8933-8950. doi: 10.1093/nar/gkw560. Epub 2016 Jun 17.
Zotero 插件