Journal
NATURE GENETICS
Volume 43, Issue 1, Pages 23-26Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.725
Keywords
-
Categories
Funding
- German Federal Ministry of Education and Research (BMBF) [01GM0880, 01GM0801]
- Karadeniz Technical University [2008.114.001.02, 2008.114.001.12]
- Medical Research Council
- Lister Institute
- Wellcome Trust [077014/Z/05/Z]
- Medical Research Council [MC_U127597124, MC_U120081295, MC_U127580972] Funding Source: researchfish
- MRC [MC_U127580972, MC_U127597124, MC_U120081295] Funding Source: UKRI
Ask authors/readers for more resources
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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available