Network of coregulated spliceosome components revealed by zebrafish mutant in recycling factor p110

Proc Natl Acad Sci U S A. 2007 Apr 17;104(16):6608-13. doi: 10.1073/pnas.0701919104. Epub 2007 Apr 6.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • DEAD-box RNA Helicases / genetics*
  • DEAD-box RNA Helicases / metabolism*
  • Genes, Lethal
  • Mutagenesis
  • Organ Specificity / genetics
  • Phenotype
  • RNA Splicing Factors
  • RNA-Binding Proteins / genetics*
  • RNA-Binding Proteins / metabolism*
  • Ribonucleoprotein, U4-U6 Small Nuclear / genetics
  • Ribonucleoprotein, U4-U6 Small Nuclear / metabolism
  • Spliceosomes / physiology*
  • Thymus Gland / abnormalities
  • Zebrafish Proteins / genetics*
  • Zebrafish Proteins / metabolism*
  • Zebrafish* / genetics
  • Zebrafish* / metabolism

Substances

  • RNA Splicing Factors
  • RNA-Binding Proteins
  • Ribonucleoprotein, U4-U6 Small Nuclear
  • Zebrafish Proteins
  • SART3 protein, zebrafish
  • DEAD-box RNA Helicases