Genetic pathway to recurrent chromosome translocations in murine lymphoma involves V(D)J recombinase

Journal of Clinical Investigation

Volumn 103, Issue 12, 1999, Pages 1669-1675

  Variasse, Gary J ^a,c   Halbrook, James ^b   Thomas, Sushma ^a   Burgess, Abigail ^c   Hoekstra, Merl F ^b   Disteche, Christine M ^a   Willerford, Dennis M ^a,c  

^a UNIVERSITY OF WASHINGTON   (United States)

^b ELI LILLY AND COMPANY   (United States)

^c PUGET SOUND BLOOD CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; B CELL LYMPHOMA; CANCER GENETICS; CHROMOSOME TRANSLOCATION 12; CHROMOSOME TRANSLOCATION 15; DNA DAMAGE; DNA STRAND BREAKAGE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; MOUSE; NONHUMAN; PRIORITY JOURNAL;

EID: 0344541696     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/jci6658     Document Type: Article

References (63)

1. Rabbitts, T.H. 1994. Chromosomal translocations in human cancer. Nature. 372:143-149.
2. Showe, L.C., and Croce, C.M. 1987. The role of chromosomal translocations in B- and T-cell neoplasia. Annu. Rev. Immunol. 5:253-277.
3. Korsmeyer, S.J. 1992. Chromosomal translocations in lymphoid malignancies reveal novel proto-oncogenes. Annu. Rev. Immunol. 10:785-807.
4. Tycko, B., and Sklar, J. 1990. Chromosomal translocations in lymphoid neoplasia: a reappraisal of the recombinase model. Cancer Cells. 2:1-8.
5. Alr, H.W., et al. 1992. VDJ recombination. Immunol. Today. 13:306-314.
6. Roth, D.B., Lindahl, T., and Gellert, M. 1995. Repair and recombination. How to make ends meet. Curr. Biol. 5:496-499.
7. Harriman, W., Volk, H., Defranoux, N., and Wabl, M. 1993. Immunoglobulin class switch recombination. Annu. Rev. Immunol. 11:361-384.
8. 11 on chromosome 14 and near a transcriptional unit on 18. Cell. 41:899-906.
9. Tsujimoto, Y., Gorham, J., Cossman, J., Jaffe, E., and Croce, C.M. 1985. The t(14;18) chromosome translocations involved in B-cell neoplasms result from mistakes in VDJ joining. Science. 22:1390-1393.
10. Taub, R., et al. 1982. Translocation of the c-myc gene into the immunoglobulin heavy chain locus in human Burkitt lymphoma and murine plasmacytoma cells. Proc Natl. Acad. Sci. USA. 79:7837-7841.
11. Haluska, F.G., Finver, S., Tsujimoto, V., and Croce, C.M. 1986. The t(8;14) chromosomal translocation occurring in B-cell malignancies results from mistakes in V-D-J joining. Nature. 325:158-161.
12. Cleary, M.L. and Sklar, J. 1985. Nucleotide sequence of a t(14;18) chromosomal breakpoint in follicular lymphoma and demonstration of a break-point cluster region near a transcriptionally active locus on chromosome 18. Proc. Natl. Acad. Sci. USA. 82:7439-7443.
13. Cory, S., Gerondakis, S., and Adams, J.M. 1983. Interchromosomal recombination of the cellular oncogene c-myc with the immunoglobulin heavy chain locus in murine plasmacytomas is a reciprocal exchange. EMBO J. 2:697-703.
14. Schatz, D.G., Oettinger, M.A., and Schlissel, M.S. 1992. V(D)J recombination: molecular biology and regulation. Annu. Rev. Immunol. 10:359-383.
15. Oettinger, M.A., Schatz, D.G., Gorka, C., and Baltimore, D.G. 1990. RAG-1 and RAG-2, adjacent genes that synergistically activate V(D)J recombination. Science. 248:1517-1522.
16. van Gent, D.C., et al. 1995. Initiation of V(D)J recombination in a cell-free system. Cell. 81:925-934.
17. McBlane, J.F., et al. 1995. Cleavage at a V(D)J recombination signal requires only RAG1 and RAG2 proteins and occurs in two steps. Cell. 83:387-395.
18. Mombaerts, P., et al. 1992. RAG-1 deficient mice have no mature B and T lymphocytes. Cell. 68:869-877.
19. Shinkai, Y., et al. 1992. RAG-2 deficient mice lack mature lymphocytes owing to inability to initiate V(D)J rearrangement. Cell. 68:855-867.
20. Schwartz, K., et al. 1996. RAG mutations in human B cell-negative SCID. Science. 274:97-99.
21. Taccioli, G.E., and Alt, F.W. 1992. Potential targets for autosomal SCID mutations. Curr. Opin. Immunol. 7:436-440.
22. Roth, P.B., Menetski, J.P., Nakajima, P.B., Bosma, M.J., and Gellert, M. 1992. V(D)J recombination: broken DNA molecules with covalenrly sealed (hairpin) coding ends in seid mouse thymocytes. Cell. 70:983-991.
23. Bosma, M.J., and Carroll, A.M. 1991. The SCID mouse mutant: definition, characterization, and potential uses. Annu. Rev. Immunol. 9:323-350.
24. Blunt, T., et al. 1995. 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.
25. Kirchgessner, C.U., et al. 1995. DNA-dependent protein kinase (p350) as a candidate gene for the murine SCID defect. Science. 267:1178-1183.
26. Peterson, S.R., et al. 1995. 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.
27. Kastan, M.B., et al. 1992. A mammalian cell cycle checkpoint pathway utilizing p53 and GADD45 is defective in ataxia-telangiectasia. Cell. 71:587-597.
28. Clarke, A.R., et al. 1993. Thymocyte apoptosis induced by p53-dependent and independent pathways. Nature. 362:849-852.
29. Lowe, S., Schmitt, E.M., Smith, S.W., Osborne, B.A., and Jacks, T. 1993. Nature. 362:847-851.
30. Donehower, L.A., et al. 1992. Nature. 356:215-221.
31. Nacht, M., et al. 1996. Mutations in the p53 and SCID genes cooperate in tumorigenesis. Genes Dev. 10:2055-2066.
32. Bogue, M.A., Zhu, C., Aguilar-Cordova, E., Donehower, L.A., and Roth, D.B. 1996. p53 is required for both radiation-induced differentiation and rescue of V(D)J rearrangement in scid mouse rhymocytes. Genes Dev. 10:553-565.
33. Guidos, C.J., et al. 1996. V(D)J recombination activates a p53-dependent DNA damage checkpoint in scid lymphocyte precursors. Genes Dev. 10:2038-2054.
34. Malynn, B.A., et al. 1988. The scid defect affects the final step of the immunoglobulin VDJ recombinase mechanism. Cell. 54:453-460.
35. Shi, Y.P., et al. 1997. FISH probes for mouse chromosome identification. Genomics. 45:42-47.
36. Edelhoff, S.E., et al. 1994. Mapping of two genes encoding members of a distinct subfamily of MAX interacting proteins: MAD to human chromosome 2 and mouse chromosome 6, and MXI1 to human chromosome 10 and mouse chromosome 19. Oncogene. 9:665-668.
37. Willerford, D.M., Swat, W., and Alt, F.W. 1996. Developmental regulation of V(D)J recombination and lymphocyte differentiation. Curr. Opin. Genet. Dev. 6:603-609.
38. Schuler, W., et al. 1986. Rearrangement of antigen receptor genes is defective in mice with severe combined immune deficiency. Cell 46:963-972.
39. Donehower, L.A., et al. 1995. Effects of genetic background on tumorigenesis in p53-deficient mice. Mol. Carcinog. 14:16-22.
40. Yunis, J.J., et al. 1982. Distinctive chromosomal abnormalities in histologic subtypes of non-Hodgkin's lymphoma. N. Engl. J. Med. 307:1231-1236.
41. Cook, G.P., et al. 1994. A map of the human immunoglobulin VH locus completed by analysis of the telomeric region of chromosome 14q. Nat. Genet. 7:162-168.
42. Tycko, B., Reynolds, T.C., Smith, S.D., and Sklar, J. 1989. Consistent breakage between consensus recombinase heptamers of chromosome 9 DNA in a recurrent chromosomal translocation of human T cell leukemia. J. Exp. Med. 169:369-377.
43. Diamond, R.A., Ward, S.B., Owada-Makabe, K., Wang, H., and Rochenberg, E.V. 1997. Different developmental arrest points in Rag-2-/- and SCID thymocytes on two genetic backgrounds. J. Immunol. 158:4052-4064.
44. Liao, M.-J., et al. 1998. No requirement for V(D)J recombination in p53-deficient thymic lymphoma. Mol. Cell. Biol. 18:3495-3501.
45. Mombaerts, P., Terhorst, C., Jacks, T., Tonegawa, S., and Sancho, J. 1995. Characterization of immature thymocyte lines derived from T-cell receptor or recombination activating gene 1 and p53 double mutant mice. Proc. Natl. Acad. Sci. USA. 92:7420-7424.
46. Nacht, M., and Jacks, T. 1998. V(D)J recombination is not required for the development of lymphoma in p53-deficient mice. Cell Growth Differ. 9:131-138.
47. Lavin, M.F., and Shiloh, Y. 1997. The generic defect in ataxia-telangiectasia. Annu. Rev. Immunol. 15:177-202.
48. Varon, R., et al. 1998. Nibrin, a novel DNA double-strand break repair protein is mutated in Nijmegen breakage syndrome. Cell. 93:467-476.
49. Ellis, N.A., et al. 1995. The Bloom's syndrome gene product is homologous to RecQ helicases. Cell. 83:655-666.
50. German, J. 1997. Bloom's syndrome. XX. The first 100 cancers. Cancer Genet. Cytogenet. 93:100-106.
51. Gerondakis, S., Cory, S., and Adams, J.M. 1984. Translocation of the myc cellular oncogene to the immunoglobulin heavy chain locus in murine plasmacytonias is an imprecise reciprocal exchange. Cell. 36:973-982.
52. Potter, M., and Wiener, F. 1992. Plasmacytomagenesis in mice: model of neoplastic development dependent upon chromosomal translocations. Carcinogenesis. 13:1681-1697.
53. Rolink, A., Melchers, F., and Andersson, J. 1996. The SCID but not the RAG-2 gene product is required for S mu-S epsilon heavy chain class switching. Immunity. 5:319-330.
54. Lansford, R., Manis, J.P., Sonoda, E., Rajewsky, K., and Alt, F.W. 1998. Ig heavy chain class switching in Rag-deficient mice. Int. Immunol. 10:325-332.
55. Sale, J.H., and Neuberger, M.S. 1998. TdT-accessible breaks are scattered over the immunoglobulin V domain inn a constitutively hypermutating B cell line. Immunity. 9:859-869.
56. Goossens, T., Klein, U., and Kuppers, R. 1998. Frequent occurrence of deletions and duplications during somatic hypermutation: implications for oncogene translocations and heavy chain disease. Proc. Natl. Acad. Sci. USA. 95:2463-2468.
57. Han, S., Zheng, B., Schatz, D.G., Spanopoulou, E., and Kelsoe, G. 1996. Neoteny in lymphocytes: Rag1 and Rag2 expression in germinal center B cells. Science. 274:2094-2097.
58. Han, S., et al. 1997. V(D)J recombinase activity in a subset of germinal center B lymphocytes. Science. 278:301-305.
59. Hikida, M., et al. 1996. Reexpression of Rag-1 and Rag-2 genes in activated mature mouse B cells. Science. 274:2092-2094.
60. Papavasiliou, F., et al. 1997 V(D)J recombination in mature B cells: a mechanism for altering antibody responses. Science. 278:298-301.
61. Harris, N.L., et al. 1994. A revised European-American classification of lymphoid neoplasms: a proposal from the International Lymphoma Study Group. Blood. 84:1361-1392.
62. Klein, U., et al. 1998. Somatic hypermutation in normal and transformed B cells. Immunol. Rev. 162:261-280.
63. Hiom, K., and Gellert, M. 1998. Assembly of a 12/23 paired signal complex: a critical control point in V(D)J recombination. Mol. Cell. 1:1011-1019.