Publication Details

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biochemistry, genetics and molecular biology

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Nature Genetics, Volume 43, No. 1, Year 2011

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. © 2011 Nature America, Inc. All rights reserved.

Statistics
Citations: 233
Authors: 32
Affiliations: 15
Identifiers
Doi: 10.1038/ng.725
ISSN: 10614036
e-ISSN: 15461718
Research Areas
Genetics And Genomics