DNA-PKcs: A T-cell tumour suppressor encoded at the mouse scid locus

Nature Genetics

Volumn 17, Issue 4, 1997, Pages 483-486

  Jhappan, Chamelli ^a   Morse III, Herbert C ^b   Fleischmann, Robert D ^a   Gottesman, Michael M ^a   Merlino, Glenn ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

^b NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; IMMUNOGLOBULIN; NUCLEAR PROTEIN; PROTEIN KINASE; T LYMPHOCYTE RECEPTOR;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CONTROLLED STUDY; DNA RECOMBINATION; DNA REPAIR; ENZYME ACTIVE SITE; GENE LOCUS; LYMPHOBLASTOMA; MOUSE; NONHUMAN; NONSENSE MUTATION; PENETRANCE; PRIORITY JOURNAL; SCID MOUSE; T LYMPHOCYTE; TUMOR SUPPRESSOR GENE;

ANIMALIA;

EID: 0030698851     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1297-483     Document Type: Article

References (30)

1. Bosma, G.C., Custer, R.P. & Bosma, M.J. A severe combined immunodeficiency mutation in the mouse. Nature 301, 527-530 (1983).
2. Gellert, M. Recent advances in understanding V(D)J recombination. Adv. Immunol. 64, 39-64 (1997).
3. Fulop, G.M. & Phillips. R.A. The scid mutation in mice causes a general defect in DNA repair. Nature 347, 479-482 (1990).
4. Biedermann, K.A., Sun, J.R., Giaccia, A.J., Tosto, L.M. & Brown, J.M. scid mutation in mice confers hypersensitivity to ionizing radiationand a deficiency in DNA double-strand break repair. Proc. Natl. Acad. Sci. USA 88, 1394-1397 (1991).
5. Hendrickson, E.A. et al. A link between double-strand break-related repair and V(D)J recombination: the scid mutation. Proc. Natl. Acad. Sci. USA 88, 4061-4065 (1991).
6. Blunt, T. et al. Defective DNA-dependent protein kinase activity is linked to V(D)J recombination and DNA repair defects associated with the murine scid mutation. Cell 80, 813-823 (1995).
7. Kirchgessner, C.U. et al. DNA-dependent kinase (p350) as a candidate gene for the murine SCID defect. Science 267, 1178-1183 (1995).
8. Peterson, S.R. et al. Loss of the catalytic subunit of the DNA-dependent protein kinase in DNA double-strand-break-repair mutant mammalian cells. Proc. Natl. Acad. Sci. USA 92, 3171-3174 (1995).
9. Gottlieb, T.M. & Jackson, S.P. The DNA-dependent protein kinase: requirement for DNA ends and association with Ku antigen. Cell 72, 131-142 (1993).
10. Zhu, C., Bogue, M.A., Lim, D.S., Hasty, P. & Roth, D.B. Ku86-deficient mice exhibit severe combined immunodeficiency and defective processing of V(D)J recombination intermediates. Cell 86, 379-389 (1996).
11. Blunt, T. et al. Identification of a nonsense mutation in the carboxyl-terminal region of DNA-dependent protein kinase catalytic subunit in the scid mouse Proc. Natl. Acad. Sci. USA 93, 10285-10290 (1996).
12. Danska, J.S., Holland, O.P., Mariathasan, S., Williams, K.M., & Guidos, C.J. Biochemical and genetic defects in the DNA-dependent protein kinase in murine scid lymphocytes. Mol. Cell. Biol. 16, 5507-5517 (1996).
13. Araki, R. et al. Nonsense mutation at Tyr-4046 in the DNA-dependent protein kinase catalytic subunit of severe combined immune deficiency mice. Proc. Natl. Acad. Sci. USA 94, 2438-2443 (1997).
14. Shin, E.K., Ferryman, L.E. & Meek, K. A kinase-negative mutation of DNA-PK(CS) in equine SCID results in defective coding and signal joint formation. J. Immunol. 158, 3565-3569 (1997).
15. Kinzler, K.W. & Vogelstein, B. Gatekeepers and caretakers. Nature 386, 761-763 (1997).
16. Strada, S.J., Martin, M.W. & Thompson, WJ. General properties of multiple molecular forms of cyclic nucleotide phosphodiesterase in the nervous system. Adv. Cyclic Nucleotide Protein Phosphorylation Res. 16, 13-29 (1984).
17. 2+-dependent, low Km cyclic AMP phosphodiesterase from bakers' yeast. J. Biol. Chem. 259, 6964-6971 (1984).
18. Sarvetnick, N., Liggitt, D., Pitts, S.L., Hansen. S.E. & Stewart, T.A. Insulin-dependent diabetes mellitus induced in transgenic mice by ectopic expression of class II MHC and interferon-gamma. Cell 52, 773-782 (1988).
19. Jhappan, C et al. TGFα overexpression in transgenic mice induces liver neoplasia and abnormal development of the mammary gland and pancreas. Cell 61, 1137-1146 (1990).
20. Miller, R.D. et al. Gene for the catalytic subunit of mouse DNA-dependent protein kinase maps to the scid locus. Proc. Natl. Acad. Sci. USA 92, 10792-10795 (1995).
21. Finnie, N.J., Gottlieb, T.M., Blunt, T., Jeggo. P.A. & Jackson, S.P. DNA-dependent protein kinase activity is absent in xrs-6 cells: implications for site-specific recombination and DNA double-strand break repair. Proc. Natl. Acad. Sci. USA 92, 320-324 (1995).
22. Anderson, C. W. S Lees-Miller, S. P. The nuclear serine/threonine protein kinase DNA-PK. Crit. Rev. Eukaryotic Gene Express. 2, 283-314 (1992).
23. Lees-Miller, S.P., Sakaguchi, K., Ullrich, S.J., Appella, E. & Anderson, C.W. Human DNA-activated protein kinase phosphorylates serines 15 and 37 in the aminoterminal transactivation domain of human p53. Mol. Cell. Biol. 12, 5041-5049 (1992).
24. Hartley, K.O. et al. DNA-dependent protein kinase catalytic subunit: a relative of phosphatidylinositol 3-kinase and the ataxia telangiectasia gene product. Cell 82, 849-856 (1995).
25. Nussenzweig, A. et al. Requirement for Ku80 in growth and immunoglobulin V(D)J recombination. Wature 382, 551-555 (1996).
26. +) lymphocytes in scid mice. J. Immunol. 143, 1087-1093 (1989).
27. Custer, R.P., Bosma, G.C. & Bosma, M.J. Severe combined immunodeficiency (SCID) in the mouse: pathology, reconstitution, neoplasms. Am. J. Pathol. 120, 464-477 (1985).
28. Savitsky, K. et al. A single ataxia telangiectasia gene with a product similar to Pl-3 kinase. Science 268, 1749-1753 (1995).
29. Hakem, R. et al. The tumor suppressor gene Brca1 is required for embryonic cellular proliferation in the mouse. Cell 85, 1009-1023 (1996).
30. Sharan, S.K. et al. Embryonic lethality and radiation hypersensitivity mediated by Rad51 in mice lacking Brca2. Nature 386, 804-810 (1997).