2. Academic Validation
  3. CEP152 is a genome maintenance protein disrupted in Seckel syndrome

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

  • Nat Genet. 2011 Jan;43(1):23-6. doi: 10.1038/ng.725.
Ersan Kalay 1,  Gökhan Yigit,  Yakup Aslan,  Karen E Brown,  Esther Pohl,  Louise S Bicknell,  Hülya Kayserili,  Yun Li,  Beyhan Tüysüz,  Gudrun Nürnberg,  Wieland Kiess,  Manfred Koegl,  Ingelore Baessmann,  Kurtulus Buruk,  Bayram Toraman,  Saadettin Kayipmaz,  Sibel Kul,  Mevlit Ikbal,  Daniel J Turner,  Martin S Taylor,  Jan Aerts,  Carol Scott,  Karen Milstein,  Helene Dollfus,  Dagmar Wieczorek,  Han G Brunner,  Matthew Hurles,  Andrew P Jackson,  Anita Rauch,  Peter Nürnberg,  Ahmet Karagüzel,  Bernd Wollnik
Affiliations

Affiliation

  • 1 Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey. [email protected]
PMID: 21131973 DOI: 10.1038/ng.725
Abstract

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.

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