| Literature DB >> 17416673 |
Nikolaus S Trede1, Jan Medenbach, Andrey Damianov, Lee-Hsueh Hung, Gerhard J Weber, Barry H Paw, Yi Zhou, Candace Hersey, Agustin Zapata, Matthew Keefe, Bruce A Barut, Andrew B Stuart, Tammisty Katz, Chris T Amemiya, Leonard I Zon, Albrecht Bindereif.
Abstract
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.Entities:
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Year: 2007 PMID: 17416673 PMCID: PMC1871833 DOI: 10.1073/pnas.0701919104
Source DB: PubMed Journal: Proc Natl Acad Sci U S A ISSN: 0027-8424 Impact factor: 11.205