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CEP152 is a genome maintenance protein disrupted in Seckel syndrome |
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| Authors: | Kalay Ersan Yigit Gökhan Aslan Yakup Brown Karen E Pohl Esther Bicknell Louise S Kayserili Hülya Li Yun Tüysüz Beyhan Nürnberg Gudrun Kiess Wieland Koegl Manfred Baessmann Ingelore Buruk Kurtulus Toraman Bayram Kayipmaz Saadettin Kul Sibel Ikbal Mevlit Turner Daniel J Taylor Martin S Aerts Jan Scott Carol Milstein Karen Dollfus Helene Wieczorek Dagmar Brunner Han G Hurles Matthew Jackson Andrew P Rauch Anita Nürnberg Peter Karagüzel Ahmet Wollnik Bernd |
| Institution: | Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey. ersankalay@hotmail.com |
| 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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