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CEP152 is a genome maintenance protein disrupted in Seckel syndrome.

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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  • Authors+Show Affiliations

    ,

    Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey. ersankalay@hotmail.com

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    Source

    Nature genetics 43:1 2011 Jan pg 23-6

    MeSH

    Cell Cycle Proteins
    Child
    Child, Preschool
    DNA Damage
    Dwarfism
    Facies
    Genome, Human
    Genomic Instability
    Histones
    Humans
    Male
    Microcephaly
    Mutation
    Phosphorylation

    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 -