Journal article

CEP152 is a genome maintenance protein disrupted in Seckel syndrome.

Ersan Kalay, 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 Show all

Nature Genetics | Published : 2011

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.