A mutation in separase causes genome instability and increased susceptibility to epithelial cancer

Genes Dev. 2007 Jan 1;21(1):55-9. doi: 10.1101/gad.1470407.

Abstract

Proper chromosome segregation is essential for maintenance of genomic integrity and instability resulting from failure of this process may contribute to cancer. Here, we demonstrate that a mutation in the mitotic regulator separase is responsible for the cell cycle defects seen in the zebrafish mutant, cease&desist (cds). Analysis of cds homozygous mutant embryos reveals high levels of polyploidy and aneuploidy, spindle defects, and a mitotic exit delay. Carcinogenesis studies demonstrated that cds heterozygous adults have a shift in tumor spectrum with an eightfold increase in the percentage of fish bearing epithelial tumors, indicating that separase is a tumor suppressor gene in vertebrates. These data strongly support a conserved cross-species role for mitotic checkpoint genes in genetic stability and epithelial carcinogenesis.

MeSH terms

  • Animals
  • Bromodeoxyuridine
  • Carcinoma, Pancreatic Ductal / etiology
  • Carcinoma, Pancreatic Ductal / pathology
  • Cell Cycle
  • Cell Cycle Proteins / genetics*
  • Disease Susceptibility*
  • Embryo, Nonmammalian / cytology
  • Embryo, Nonmammalian / metabolism
  • Endopeptidases / genetics*
  • Genomic Instability*
  • Heterozygote
  • Homozygote
  • Intestinal Neoplasms / etiology
  • Intestinal Neoplasms / pathology
  • Mitosis*
  • Mutation*
  • Neoplasms, Glandular and Epithelial / etiology*
  • Neoplasms, Glandular and Epithelial / pathology
  • Ploidies
  • Separase
  • Spindle Apparatus / genetics
  • Spindle Apparatus / pathology
  • Zebrafish / genetics
  • Zebrafish / growth & development
  • Zebrafish / metabolism

Substances

  • Cell Cycle Proteins
  • Endopeptidases
  • Separase
  • Bromodeoxyuridine