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CEP152 is a genome maintenance protein disrupted in Seckel syndrome.
Nat Genet 2011; 43(1):23-6NGen

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.

Authors+Show Affiliations

Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey. ersankalay@hotmail.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

21131973

Citation

Kalay, Ersan, et al. "CEP152 Is a Genome Maintenance Protein Disrupted in Seckel Syndrome." Nature Genetics, vol. 43, no. 1, 2011, pp. 23-6.
Kalay E, Yigit G, Aslan Y, et al. CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet. 2011;43(1):23-6.
Kalay, E., Yigit, G., Aslan, Y., Brown, K. E., Pohl, E., Bicknell, L. S., ... Wollnik, B. (2011). CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nature Genetics, 43(1), pp. 23-6. doi:10.1038/ng.725.
Kalay E, et al. CEP152 Is a Genome Maintenance Protein Disrupted in Seckel Syndrome. Nat Genet. 2011;43(1):23-6. PubMed PMID: 21131973.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - CEP152 is a genome maintenance protein disrupted in Seckel syndrome. AU - Kalay,Ersan, AU - Yigit,Gökhan, AU - Aslan,Yakup, AU - Brown,Karen E, AU - Pohl,Esther, AU - Bicknell,Louise S, AU - Kayserili,Hülya, AU - Li,Yun, AU - Tüysüz,Beyhan, AU - Nürnberg,Gudrun, AU - Kiess,Wieland, AU - Koegl,Manfred, AU - Baessmann,Ingelore, AU - Buruk,Kurtulus, AU - Toraman,Bayram, AU - Kayipmaz,Saadettin, AU - Kul,Sibel, AU - Ikbal,Mevlit, AU - Turner,Daniel J, AU - Taylor,Martin S, AU - Aerts,Jan, AU - Scott,Carol, AU - Milstein,Karen, AU - Dollfus,Helene, AU - Wieczorek,Dagmar, AU - Brunner,Han G, AU - Hurles,Matthew, AU - Jackson,Andrew P, AU - Rauch,Anita, AU - Nürnberg,Peter, AU - Karagüzel,Ahmet, AU - Wollnik,Bernd, Y1 - 2010/12/05/ PY - 2010/08/09/received PY - 2010/11/12/accepted PY - 2010/12/7/entrez PY - 2010/12/7/pubmed PY - 2011/2/23/medline SP - 23 EP - 6 JF - Nature genetics JO - Nat. Genet. VL - 43 IS - 1 N2 - 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. SN - 1546-1718 UR - https://www.unboundmedicine.com/medline/citation/21131973/CEP152_is_a_genome_maintenance_protein_disrupted_in_Seckel_syndrome_ L2 - http://dx.doi.org/10.1038/ng.725 DB - PRIME DP - Unbound Medicine ER -