CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination

Nat Commun. 2015 Jul 9:6:7676. doi: 10.1038/ncomms8676.

Abstract

CEP63 is a centrosomal protein that facilitates centriole duplication and is regulated by the DNA damage response. Mutations in CEP63 cause Seckel syndrome, a human disease characterized by microcephaly and dwarfism. Here we demonstrate that Cep63-deficient mice recapitulate Seckel syndrome pathology. The attrition of neural progenitor cells involves p53-dependent cell death, and brain size is rescued by the deletion of p53. Cell death is not the result of an aberrant DNA damage response but is triggered by centrosome-based mitotic errors. In addition, Cep63 loss severely impairs meiotic recombination, leading to profound male infertility. Cep63-deficient spermatocytes display numerical and structural centrosome aberrations, chromosome entanglements and defective telomere clustering, suggesting that a reduction in centrosome-mediated chromosome movements underlies recombination failure. Our results provide novel insight into the molecular pathology of microcephaly and establish a role for the centrosome in meiotic recombination.

Publication types

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

MeSH terms

  • Animals
  • Cell Cycle Proteins / genetics*
  • Centrosome / metabolism*
  • DNA Damage
  • Dwarfism / genetics*
  • Facies
  • Homologous Recombination / genetics*
  • Immunohistochemistry
  • Male
  • Meiosis / genetics*
  • Mice
  • Microcephaly / genetics*
  • Real-Time Polymerase Chain Reaction
  • Recombination, Genetic / genetics
  • Sperm Count
  • Spermatocytes / metabolism*
  • Spermatocytes / pathology
  • Tumor Suppressor Protein p53 / genetics*

Substances

  • Cell Cycle Proteins
  • Cep63 protein, mouse
  • Tumor Suppressor Protein p53

Supplementary concepts

  • Seckel syndrome 1