CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Nat Genet. 2011 Jan;43(1):23-6. doi: 10.1038/ng.725. Epub 2010 Dec 5.


Functional impairment of DNA damage response pathways leads to increased genomic instability. Here we describe the centrosomal protein CEP152 as a new regulator of genomic integrity and cellular response to DNA damage. Using homozygosity mapping and exome sequencing, we identified CEP152 mutations in Seckel syndrome and showed that impaired CEP152 function leads to accumulation of genomic defects resulting from replicative stress through enhanced activation of ATM signaling and increased H2AX phosphorylation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Cycle Proteins / genetics*
  • Child
  • Child, Preschool
  • DNA Damage
  • Dwarfism / genetics
  • Facies
  • Genome, Human*
  • Genomic Instability
  • Histones / genetics
  • Humans
  • Male
  • Microcephaly / genetics
  • Mutation
  • Phosphorylation


  • CEP152 protein, human
  • Cell Cycle Proteins
  • H2AX protein, human
  • Histones

Supplementary concepts

  • Seckel syndrome 1