Trede Nikolaus S, Medenbach Jan, Damianov Andrey, Hung Lee-Hsueh, Weber Gerhard J, Paw Barry H, Zhou Yi, Hersey Candace, Zapata Agustin, Keefe Matthew, Barut Bruce A, Stuart Andrew B, Katz Tammisty, Amemiya Chris T, Zon Leonard I, Bindereif Albrecht
Institute of Biochemistry, Justus-Liebig-University, D-35392 Giessen, Germany.
Proc Natl Acad Sci U S A. 2007 Apr 17;104(16):6608-13. doi: 10.1073/pnas.0701919104. Epub 2007 Apr 6.
The spliceosome cycle consists of assembly, catalysis, and recycling phases. Recycling of postspliceosomal U4 and U6 small nuclear ribonucleoproteins (snRNPs) requires p110/SART3, a general splicing factor. In this article, we report that the zebrafish earl grey (egy) mutation maps in the p110 gene and results in a phenotype characterized by thymus hypoplasia, other organ-specific defects, and death by 7 to 8 days postfertilization. U4/U6 snRNPs were disrupted in egy mutant embryos, demonstrating the importance of p110 for U4/U6 snRNP recycling in vivo. Surprisingly, expression profiling of the egy mutant revealed an extensive network of coordinately up-regulated components of the spliceosome cycle, providing a mechanism compensating for the recycling defect. Together, our data demonstrate that a mutation in a general splicing factor can lead to distinct defects in organ development and cause disease.
剪接体循环由组装、催化和再循环阶段组成。剪接后U4和U6小核核糖核蛋白(snRNP)的再循环需要p110/SART3,一种通用剪接因子。在本文中,我们报道斑马鱼早灰(egy)突变定位在p110基因中,并导致一种表型,其特征为胸腺发育不全、其他器官特异性缺陷以及在受精后7至8天死亡。U4/U6 snRNP在egy突变胚胎中被破坏,证明了p110在体内U4/U6 snRNP再循环中的重要性。令人惊讶的是,egy突变体的表达谱揭示了剪接体循环中协调上调的成分的广泛网络,提供了一种补偿再循环缺陷的机制。总之,我们的数据表明,一种通用剪接因子中的突变可导致器官发育中的明显缺陷并引发疾病。