Separase phosphosite mutation leads to genome instability and primordial germ cell depletion during oogenesis

PLoS One. 2011 Apr 11;6(4):e18763. doi: 10.1371/journal.pone.0018763.

Abstract

To ensure equal chromosome segregation and the stability of the genome during cell division, Separase is strictly regulated primarily by Securin binding and inhibitory phosphorylation. By generating a mouse model that contained a mutation to the inhibitory phosphosite of Separase, we demonstrated that mice of both sexes are infertile. We showed that Separase deregulation leads to chromosome mis-segregation, genome instability, and eventually apoptosis of primordial germ cells (PGCs) during embryonic oogenesis. Although the PGCs of mutant male mice were completely depleted, a population of PGCs from mutant females survived Separase deregulation. The surviving PGCs completed oogenesis but produced deficient initial follicles. These results indicate a sexual dimorphism effect on PGCs from Separase deregulation, which may be correlated with a gender-specific discrepancy of Securin. Our results reveal that Separase phospho-regulation is critical for genome stability in oogenesis. Furthermore, we provided the first evidence of a pre-zygotic mitotic chromosome segregation error resulting from Separase deregulation, whose sex-specific differences may be a reason for the sexual dimorphism of aneuploidy in gametogenesis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Carrier Proteins / metabolism
  • Cell Cycle Proteins / genetics*
  • Cell Cycle Proteins / metabolism*
  • Chromosome Segregation
  • Endopeptidases / genetics*
  • Endopeptidases / metabolism*
  • Female
  • Fertilization
  • Genomic Instability / genetics*
  • Male
  • Mice
  • Mice, Mutant Strains
  • Mitosis
  • Oogenesis*
  • Ovarian Follicle / metabolism
  • Ovarian Follicle / pathology
  • Ovulation
  • Ovum / metabolism
  • Ovum / pathology*
  • Phosphorylation
  • Point Mutation / genetics*
  • Securin
  • Separase
  • Sex Characteristics

Substances

  • Carrier Proteins
  • Cell Cycle Proteins
  • Securin
  • Endopeptidases
  • Separase