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Science 24 February 1995: Vol. 267. no. 5201, pp. 1178 - 1183 DOI: 10.1126/science.7855601
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Articles
Science, Vol 267, Issue 5201, 1178-1183
Copyright © 1995 by American Association for the Advancement of Science
DNA-dependent kinase (p350) as a candidate gene for the murine SCID defect
CU Kirchgessner,
CK Patil,
JW Evans,
CA Cuomo,
LM Fried,
T Carter,
MA Oettinger,
and
JM Brown
Department of Radiation Oncology, Stanford University School of Medicine, CA 94305.
Severe combined immunodeficient (SCID) mice are deficient in a recombination process utilized in both DNA double-strand break repair and in V(D)J recombination. The phenotype of these mice involves both cellular hypersensitivity to ionizing radiation and a lack of B and T cell immunity. The catalytic subunit of DNA-dependent protein kinase, p350, was identified as a strong candidate for the murine gene SCID. Both p350 and a gene complementing the SCID defect colocalize to human chromosome 8q11. Chromosomal fragments expressing p350 complement the SCID phenotype, and p350 protein levels are greatly reduced in cells derived from SCID mice compared to cells from wild-type mice.
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- A Human Severe Combined Immunodeficiency (SCID) Condition with Increased Sensitivity to Ionizing Radiations and Impaired V(D)J Rearrangements Defines a New DNA Recombination/Repair Deficiency.
- N. Nicolas, D. Moshous, M. Cavazzana-Calvo, D. Papadopoulo, R. de Chasseval, F. Le Deist, A. Fischer, and J.-P. de Villartay (1998)
J. Exp. Med.
188, 627-634
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- Sequence-specific Binding of Ku Autoantigen to Single-stranded DNA.
- H. Torrance, W. Giffin, D. J. Rodda, L. Pope, and R. J. G. Hache (1998)
J. Biol. Chem.
273, 20810-20819
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- Molecular analyses of adaptive survival responses (ASRs): role of ASRs in radiotherapy.
- D. A Boothman, E. Odegaard, C.-R. Yang, K. Hosley, and M. S Mendonca (1998)
Human and Experimental Toxicology
17, 448-453
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- DNA-Dependent Protein Kinase Phosphorylation of Ikappa Balpha and Ikappa Bbeta Regulates NF-kappa B DNA Binding Properties.
- L. Liu, Y.-T. Kwak, F. Bex, L. F. Garcia-Martinez, X.-H. Li, K. Meek, W. S. Lane, and R. B. Gaynor (1998)
Mol. Cell. Biol.
18, 4221-4234
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- Stimulation of the DNA-dependent Protein Kinase by Poly(ADP-Ribose) Polymerase.
- T. Ruscetti, B. E. Lehnert, J. Halbrook, H. Le Trong, M. F. Hoekstra, D. J. Chen, and S. R. Peterson (1998)
J. Biol. Chem.
273, 14461-14467
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- Functional Analysis of Human Replication Protein A in Nucleotide Excision Repair.
- E. Stigger, R. Drissi, and S.-H. Lee (1998)
J. Biol. Chem.
273, 9337-9343
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- Modulation of Sp1 Phosphorylation by Human Immunodeficiency Virus Type 1 Tat.
- R. F. Chun, O. J. Semmes, C. Neuveut, and K.-T. Jeang (1998)
J. Virol.
72, 2615-2629
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- Structure of Nonhairpin Coding-End DNA Breaks in Cells Undergoing V(D)J Recombination.
- M. S. Schlissel (1998)
Mol. Cell. Biol.
18, 2029-2037
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- DNA Double-stranded Breaks Induce Histone H2AX Phosphorylation on Serine 139.
- E. P. Rogakou, D. R. Pilch, A. H. Orr, V. S. Ivanova, and W. M. Bonner (1998)
J. Biol. Chem.
273, 5858-5868
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- Radiation-Induced Chromosome Aberrations in Saccharomyces cerevisiae : Influence of DNA Repair Pathways.
- A. A. Friedl, M. Kiechle, B. Fellerhoff, and F. Eckardt-Schupp (1998)
Genetics
148, 975-988
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- Lectin Histochemistry Reveals the Appearance of M-cells in Peyer's Patches of SCID Mice After Syngeneic Normal Bone Marrow Transplantation.
- R. Sharma, U. Schumacher, and E. Adam (1998)
J. Histochem. Cytochem.
46, 143-148
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- DNA-dependent protein kinase: DNA binding and activation in the absence of Ku.
- O. Hammarsten and G. Chu (1998)
PNAS
95, 525-530
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- The XRCC4 Gene Product Is a Target for and Interacts with the DNA-dependent Protein Kinase.
- R. Leber, T. W. Wise, R. Mizuta, and K. Meek (1998)
J. Biol. Chem.
273, 1794-1801
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- Footprint Analysis of the RAG Protein Recombination Signal Sequence Complex for V(D)J Type Recombination.
- F. Nagawa, K.-i. Ishiguro, A. Tsuboi, T. Yoshida, A. Ishikawa, T. Takemori, A. J. Otsuka, and H. Sakano (1998)
Mol. Cell. Biol.
18, 655-663
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- Hypersensitivity of Ku80-deficient cell lines and mice to DNA damage: The effects of ionizing radiation on growth, survival, and development.
- A. Nussenzweig, K. Sokol, P. Burgman, L. Li, and G. C. Li (1997)
PNAS
94, 13588-13593
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- Minisatellite instability in severe combined immunodeficiency mouse cells.
- H. Imai, H. Nakagama, K. Komatsu, T. Shiraishi, H. Fukuda, T. Sugimura, and M. Nagao (1997)
PNAS
94, 10817-10820
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- Double Strand Break Repair.
- G. Chu (1997)
J. Biol. Chem.
272, 24097-24100
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- Ku70 Is Required for DNA Repair but Not for T Cell Antigen Receptor Gene Recombination In Vivo.
- H. Ouyang, A. Nussenzweig, A. Kurimasa, V. d. C. Soares, X. Li, C. Cordon-Cardo, W.-h. Li, N. Cheong, M. Nussenzweig, G. Iliakis, et al. (1997)
J. Exp. Med.
186, 921-929
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- SV40 Large Tumor Antigen Nuclear Import Is Regulated by the Double-stranded DNA-dependent Protein Kinase Site (Serine 120) Flanking the Nuclear Localization Sequence.
- C.-Y. Xiao, S. Hubner, and D. A. Jans (1997)
J. Biol. Chem.
272, 22191-22198
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- The human XRCC9 gene corrects chromosomal instability and mutagen sensitivities in CHO UV40 cells.
- N. Liu, J. E. Lamerdin, J. D. Tucker, Z.-Q. Zhou, C. A. Walter, J. S. Albala, D. B. Busch, and L. H. Thompson (1997)
PNAS
94, 9232-9237
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