CEP152 is a genome maintenance protein disrupted in Seckel syndrome.

Nat Genet 2011 Jan 5;43(1):23-6. Epub 2010 Dec 5.

Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.

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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http://dx.doi.org/10.1038/ng.725DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3430850PMC
January 2011
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