CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Date
2011
Author
Toraman, Bayram
Kayipmaz, Saadettin
Kul, Sibel
Ikbal, Mevlit
TURNER, Daniel J.
Taylor, Martin S.
Aerts, Jan
SCOTT, Carol
Milstein, Karen
Dollfus, Helene
Kayserili, Hulya
Tuysuz, Beyhan
WIECZOREK, Dagmar
BRUNNER, Han G.
HURLES, Matthew
Jackson, Andrew P.
Rauch, Anita
NUERNBERG, Peter
Karaguzel, Ahmet
Wollnik, Bernd
Kalay, Ersan
YIGIT, Goekhan
ASLAN, YAKUP
BROWN, Karen E.
Pohl, Esther
Bicknell, Louise S.
Li, Yun
NUERNBERG, Gudrun
KIESS, Wieland
Koegl, Manfred
Baessmann, Ingelore
Buruk, Kurtulus
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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.
URI
http://hdl.handle.net/20.500.12627/142303
https://doi.org/10.1038/ng.725
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