Murine Prkdc polymorphisms impact DNA-PKcs function

Radiation Research

Volumn 175, Issue 4, 2011, Pages 493-500

  Fabre, Kristin M ^a   Ramaiah, Lila ^c   Dregalla, Ryan C ^a   Desaintes, Christian ^d   Weil, Michael M ^a   Bailey, Susan M ^a   Ullrich, Robert L ^b  

^a Department of Environmental and Radiological Health Sciences   (United States)

^b UNIVERSITY OF TEXAS MEDICAL BRANCH   (United States)

^c Huntingdon Life Sciences New Jersey   (United States)

^d EUROPEAN COMMISSION   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; DNA DEPENDENT PROTEIN KINASE;

ALLELE; ANIMAL CELL; ARTICLE; BAGG ALBINO MOUSE; BREAST CANCER; CANCER SUSCEPTIBILITY; CONGENIC STRAIN; CONTROLLED STUDY; DNA REPAIR; ENZYME ACTIVE SITE; ENZYME ACTIVITY; FEMALE; GENE; GENOMIC INSTABILITY; INBRED STRAIN; IONIZING RADIATION; MOUSE; NONHUMAN; PRIORITY JOURNAL; PRKDC GENE; PROTEIN EXPRESSION; RADIATION CARCINOGENESIS; SINGLE NUCLEOTIDE POLYMORPHISM; TELOMERE;

ANIMALS; DNA; DNA REPAIR; DNA-ACTIVATED PROTEIN KINASE; DNA-BINDING PROTEINS; MICE; MICE, INBRED BALB C; MICE, INBRED C57BL; MICE, TRANSGENIC; MUTATION; NUCLEAR PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; SPECIES SPECIFICITY;

MURINAE; MUS;

EID: 79953329983     PISSN: 00337587     EISSN: None     Source Type: Journal    
DOI: 10.1667/RR2431.1     Document Type: Article

References (30)

1. S. Madhusudan and M. R. Middleton, The emerging role of DNA repair proteins as predictive, prognostic and therapeutic targets in cancer. Cancer Treat. Rev. 31, 603-617 (2005). (Pubitemid 41662887)
2. D. Scott, Chromosomal radiosensitivity and low penetrance predisposition to cancer. Cytogenet. Genome Res. 104, 365-370 (2004). (Pubitemid 38721104)
3. P. Bhatti, J. P. Struewing, B. H. Alexander, M. Hauptmann, L. Bowen, L. H. Mateus-Pereira, M. A. Pineda, S. L. Simon, R. M. Weinstock and A. J. Sigurdson, Polymorphisms in DNA repair genes, ionizing radiation exposure and risk of breast cancer in U.S. radiologic technologists. Int. J. Cancer 122, 177-182 (2008). (Pubitemid 350209993)
4. D. H. Auckley, R. E. Crowell, E. R. Heaphy, C. A. Stidley, J. F. Lechner, F. D. Gilliland and S. A. Belinsky, Reduced DNAdependent protein kinase activity is associated with lung cancer. Carcinogenesis 22, 723-727 (2001). (Pubitemid 32447919)
5. M. van der Burg, J. J. van Dongen and D. C. van Gent, DNAPKcs deficiency in human: long predicted, finally found. Curr. Opin. Allergy Clin. Immunol. 9, 503-509 (2009).
6. R. L. Ullrich, Tumor induction in BALB/c female mice after fission neutron or gamma irradiation. Radiat. Res. 93, 506-515 (1983). (Pubitemid 13112276)
7. B. Ponnaiya, M. N. Cornforth and R. L. Ullrich, Radiationinduced chromosomal instability in BALB/c and C57BL/6 mice: the difference is as clear as black and white. Radiat. Res. 147, 121-125 (1997). (Pubitemid 27061467)
8. R. Okayasu, K. Suetomi, Y. Yu, A. Silver, J. S. Bedford, R. Cox and R. L. Ullrich, A deficiency in DNA repair and DNA-PKcs expression in the radiosensitive BALB/c mouse. Cancer Res. 60, 4342-4345 (2000). (Pubitemid 32103607)
9. Y. Yu, R. Okayasu, M. M. Weil, A. Silver, M. McCarthy, R. Zabriskie, S. Long, R. Cox and R. L. Ullrich, Elevated breast cancer risk in irradiated BALB/c mice associates with unique functional polymorphism of the Prkdc (DNA-dependent protein kinase catalytic subunit) gene. Cancer Res. 61, 1820-1824 (2001). (Pubitemid 32691991)
10. W. D. Block, Y. Yu, D. Merkle, J. L. Gifford, Q. Ding, K. Meek and S. P. Lees-Miller, Autophosphorylation-dependent remodeling of the DNA-dependent protein kinase catalytic subunit regulates ligation of DNA ends. Nucleic Acids Res. 32, 4351-4357 (2004). (Pubitemid 39232307)
11. M. Hammel, Y. Yu, B. L. Mahaney, B. Cai, R. Ye, B. M. Phipps, R. P. Rambo, G. L. Hura, M. Pelikan and J. A. Tainer, Ku and DNA-dependent protein kinase dynamic conformations and assembly regulate DNA binding and the initial nonhomologous end joining complex. J. Biol. Chem. 285, 1414- 1423 (2010).
12. S. M. Bailey, J. Meyne, D. J. Chen, A. Kurimasa, G. C. Li, B. E. Lehnert and E. H. Goodwin, DNA double-strand break repair proteins are required to cap the ends of mammalian chromosomes. Proc. Natl. Acad. Sci. USA 96, 14899-14904 (1999). (Pubitemid 30019737)
13. S. M. Bailey, M. N. Cornforth, A. Kurimasa, D. J. Chen and E. H. Goodwin, Strand-specific postreplicative processing of mammalian telomeres. Science 293, 2462-2465 (2001). (Pubitemid 32917329)
14. S. M. Bailey, M. N. Cornforth, R. L. Ullrich and E. H. Goodwin, Dysfunctional mammalian telomeres join with DNA doublestrand breaks. DNA Repair (Amst.) 3, 349-357 (2004). (Pubitemid 38316841)
15. E. S. Williams, R. Klingler, B. Ponnaiya, T. Hardt, E. Schrock, S. P. Lees-Miller, K. Meek, R. L. Ullrich and S. M. Bailey, Telomere dysfunction and DNA-PKcs deficiency: characterization and consequence. Cancer Res. 69, 2100-2107 (2009).
16. R. T. Hagelstrom, K. F. Askin, A. J. Williams, L. Ramaiah, C. Desaintes, E. H. Goodwin, R. L. Ullrich and S. M. Bailey, DNAPKcs and ATM influence generation of ionizing radiationinduced bystander signals. Oncogene 27, 6761-6769 (2008).
17. M. M. Weil, B. W. Brown and D. M. Serachitopol, Genotype selection to rapidly breed congenic strains. Genetics 146, 1061-1069 (1997). (Pubitemid 27290988)
18. T. A. Kato, H. Nagasawa, M. M. Weil, J. B. Little and J. S. Bedford, Levels of gamma-H2AX foci after low-dose-rate irradiation reveal a DNA DSB rejoining defect in cells from human ATM heterozygotes in two at families and in another apparently normal individual. Radiat. Res. 166, 443-453 (2006). (Pubitemid 44353427)
19. S. M. Bailey, E. H. Goodwin and M. N. Cornforth, Strandspecific fluorescence in situ hybridization: the CO-FISH family. Cytogenet. Genome Res. 107, 14-17 (2004). (Pubitemid 39140339)
20. S. M. Bailey, E. S. Williams, M. N. Cornforth and E. H. Goodwin, Chromosome orientation fluorescence in situ hybridization or strand-specific FISH. Methods Mol. Biol. 659, 173-183.
21. S. Zhang, E. S. Ramsay and B. A. Mock, Cdkn2a, the cyclindependent kinase inhibitor encoding p16INK4a and p19ARF, is a candidate for the plasmacytoma susceptibility locus, Pctr1. Proc. Natl. Acad. Sci. USA 95, 2429-2434 (1998).
22. T. A. Kato, H. Nagasawa, M. M. Weil, P. C. Genik, J. B. Little and J. S. Bedford, c-H2AX foci after low-dose-rate irradiation reveal Atm haploinsufficiency in mice. Radiat. Res. 166, 47-54 (2006). (Pubitemid 44051225)
23. C. B. Tempfer, L. A. Hefler, C. Schneeberger and J. C. Huber, How valid is single nucleotide polymorphism (SNP) diagnosis for the individual risk assessment of breast cancer? Gynecol. Endocrinol. 22, 155-159 (2006). (Pubitemid 43995033)
24. R. K. Mandal, R. Gangwar, A. Mandhani and R. D. Mittal, DNA repair gene X-ray repair cross-complementing group 1 and xeroderma pigmentosum group D polymorphisms and risk of prostate cancer: a study from north India. DNA Cell Biol. 29, 183-190 (2010).
25. K. Matsuo, K. Wakai, K. Hirose, H. Ito, T. Saito, T. Suzuki, T. Kato, T. Hirai, Y. Kanemitsu and K. Tajima, A gene-gene interaction between ALDH2 Glu487Lys and ADH2 His47Arg polymorphisms regarding the risk of colorectal cancer in Japan. Carcinogenesis 27, 1018-1023 (2006).
26. J. Conde, S. N. Silva, A. P. Azevedo, V. Teixeira, J. E. Pina, J. Rueff and J. F. Gaspar, Association of common variants in mismatch repair genes and breast cancer susceptibility: a multigene study. BMC Cancer 9, 344 (2009).
27. R. L. Ullrich, Cellular and molecular changes in mammary epithelial cells following irradiation. Radiat. Res. 128 (Suppl.), S136-S140 (1991).
28. B. L. Mahaney, K. Meek and S. P. Lees-Miller, Repair of ionizing radiation-induced DNA double-strand breaks by nonhomologous end-joining. Biochem. J. 417, 639-650 (2009).
29. S. M. Bailey, M. A. Brenneman, J. Halbrook, J. A. Nickoloff, R. L. Ullrich and E. H. Goodwin, The kinase activity of DNAPK is required to protect mammalian telomeres. DNA Repair (Amst.) 3, 225-233 (2004). (Pubitemid 38177244)
30. O. Bombarde, C. Boby, D. Gomez, P. Frit, M. J. Giraud-Panis, E. Gilson, B. Salles and P. Calsou, TRF2/RAP1 and DNA-PK mediate a double protection against joining at telomeric ends. EMBO J. 29, 1573-1584 (2010).