In vivo transposition mediated by V(D)J recombinase in human T lymphocytes

EMBO Journal

Volumn 22, Issue 6, 2003, Pages 1381-1388

  Messier, Terri L ^a,b   O'Neill, J Patrick ^a,b   Hou, Sai Mei ^c   Nicklas, Janice A ^a,b   Finette, Barry A ^a,b  

^a UNIVERSITY OF VERMONT   (United States)

^b UNIVERSITY OF VERMONT COLLEGE OF MEDICINE   (United States)

^c KAROLINSKA INSTITUTE   (Sweden)

Author keywords

HPRT; Human T cell receptor; RAG1 2; Transposition; V(D)J recombination

Indexed keywords

COMPLEMENTARY DNA; GENE PRODUCT; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; MESSENGER RNA; RECOMBINASE; T LYMPHOCYTE RECEPTOR;

ARTICLE; GENE LOCUS; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC RECOMBINATION; GENOME; HUMAN; HUMAN CELL; IMMUNOGENETICS; IMMUNOGLOBULIN VARIABLE REGION; LYMPHOCYTE CLONE; MUTAGENICITY; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; T LYMPHOCYTE;

BASE SEQUENCE; BINDING SITES; CHROMOSOMES, HUMAN, PAIR 14; CHROMOSOMES, HUMAN, X; CLONE CELLS; DNA NUCLEOTIDYLTRANSFERASES; GENE REARRANGEMENT, T-LYMPHOCYTE; GENE SILENCING; GENES, IMMUNOGLOBULIN; GENES, T-CELL RECEPTOR ALPHA; HOMEODOMAIN PROTEINS; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; IMMUNOGLOBULIN JOINING REGION; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; RECEPTORS, ANTIGEN, T-CELL; RECOMBINATION, GENETIC; T-LYMPHOCYTES; VDJ RECOMBINASES;

EID: 0345146909     PISSN: 02614189     EISSN: None     Source Type: Journal    
DOI: 10.1093/emboj/cdg137     Document Type: Article

References (42)

1. Agrawal, A. and Schatz, D.G. (1997) RAG1 and RAG2 form a stable post cleavage synaptic complex with DNA containing signal ends in V(D)J recombination. Cell, 89, 43-53.
2. Agrawal, A., Eastman, Q.M. and Schatz, D.G. (1998) Transposition mediated by RAG1 and RAG2 and its implications for the evolution of the immune system. Nature, 394, 744-751.
3. Aplan, P.D., Lombardi, D.P., Ginsberg, A.M., Cossman, J., Bertness, V.L. and Kirsch, I.R. (1990) Disruption of the SCL locus by 'illegitimate' V-(D)-J recombinase activity. Science, 250, 1426-1429.
4. Bernard, O., Guglielmi, P., Jonveaux, P., Cherif, D., Gisselbrecht, S., Mauchauffe, M., Berger, R., Larsen, C.J. and Mathieu-Mahul, D. (1990) Two distinct mechanisms for the SCL gene activation in the t(1; 14) translocation of T-cell leukemias. Genes Chromosome Cancer, 1, 194-208.
5. Breit, T.M., Mol, E.J., Wolvers-Tettero, I.L., Ludwig, W.D., van Wering, E.R. and van Dongen, J.J. (1993) Site-specific deletions involving the tal-1 and sil genes are restricted to cells of the T-cell receptor alpha/beta lineage: T-cell receptor delta gene deletion mechanism affects multiple genes. J. Exp. Med., 177, 965-977.
6. Craig, N.L. (1995) Unity in transposition reactions. Science, 270, 253-254.
7. Davila, M., Foster, S., Kelsoe, G. and Yang, K. (2001) A role for secondary V(D)J recombination in oncogenic chromosomal translocations? Adv. Cancer Res., 81, 61-92.
8. Dreyfus, D.H. (1992) Evidence suggesting an evolutionary relationship between transposable elements and immune system recombination sequences. Mol. Immunol., 29, 807-810.
9. Finette, B.A., Poseno, T. and Albertini, R.J. (1996) V(D)J recombinasemediated HPRT mutations in peripheral blood lymphocytes of normal children. Cancer Res., 56, 1405-1412.
10. Foster, T.J., Lundblad, V., Hanley-Way, S., Halling, S.M. and Kleckner, N. (1981) Three Tn10-associated excision events: relationship to transposition and role of direct and inverted repeats. Cell, 23, 215-227.
11. Fugmann, S.D. (2001) RAG1 and RAG2 in V(D)J recombination and transposition, Immunol. Res., 23, 23-39.
12. Fugmann, S.D., Lee, A.I., Shockett, P.E., Villey, I.J. and Schatz, D.G. (2000) The RAG proteins and V(D)J recombination: complexes, ends and transposition. Annu. Rev. Immunol., 18, 495-527.
13. Fuscoe, J.C., Zimmerman, L.J., Lippert, M.J., Nicklas, J.A., O'Neill, J.P. and Albertini, R.J. (1991) V(D)J recombinase-like activity mediates hprt gene deletion in human fetal T-lymphocytes. Cancer Res., 51, 6001-6005.
14. Gellert, M., Hesse, J.E., Hiom, K., Melek, M., Modesti, M., Paull, T.T., Ramsden, D.A. and van Gent, D.C. (1999) V(D)J recombination: links to transposition and double-strand break repair. Cold Spring Harb. Syrup. Quant. Biol., 64, 161-167.
15. 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.
16. Hiom, K., Melek, M. and Gellert, M. (1998) DNA transposition by the RAG1 and RAG2 proteins: a possible source of oncogenic translocation. Cell, 94, 463-470.
17. Hou, S.-M. (1994) Novel types of mutation identified at the hprt locus of human T-lymphocytes. Mutat. Res., 308, 23-31.
18. Jackson, S.P. (2002) Sensing and repairing DNA double-strand breaks. Carcinogenesis, 23, 687-696.
19. Jones, J.M. and Gellert, M. (2001) Intermediates in V(D)J recombination: a stable RAG1/2 complex sequesters cleaved RSS ends. Proc. Natl Acad. Sci. USA, 98, 12926-12931.
20. Kennedy, A.K., Guhathakurta, A., Kleckner, N. and Haniford, D.B. (1998) Tn10 transposition via a DNA hairpin intermediate. Cell, 95, 125-134.
21. Lee, G.S., Neiditch, M.B., Sinden, R.R. and Roth, D.B. (2002) Targeted transposition by the V(D)J recombinase. Mol. Cell. Biol., 22, 2068-2077.
22. Lewis, S.M. (1994) The mechanism of V(D)J joining: lessons from molecular, immunological and comparative analyses. Adv. Immunol., 56, 27-150.
23. Lewis, S.M. and Wu, G.E. (2000) The old and the restless. J. Exp. Med., 191, 1631-1635.
24. Lewis, S.M., Agard, E., Suh, S. and Czyzyk, L. (1997) Cryptic signals and the fidelity of V(D)J joining. Mol. Cell. Biol., 17, 3125-3136.
25. Livak, F. and Schatz, D.G. (1996) T-cell receptor alpha locus V(D)J recombination by-products are abundant in thymocytes and mature T cells. Mol. Cell. Biol., 16, 609-618.
26. Macintyre, E.A., Smit, L., Ritz, J., Kirsch, I.R. and Strominger, J.L. (1992) Disruption of the SCL locus in T-lymphoid malignancies correlates with commitment to the T-cell receptor alpha beta lineage. Blood, 80, 1511-1520.
27. McBlane, J.F., van Gent, D.C., Ramsden, D.A., Romeo, C., Cuomo, C.A., Gellert, M. and Oettinger, M.A. (1995) Cleavage at a V(D)J recombination signal requires only RAG1 and RAG2 proteins and occurs in two steps. Cell, 83, 387-395.
28. McMahan, C.J. and Fink, P.J. (1998) RAG reexpression and DNA recombination at T cell receptor loci in peripheral CD4+ T cells. Immunity, 9, 637-647.
29. Mizuuchi, K. (1992) Transpositional recombination: mechanistic insights from studies of Mu and other elements. Annu. Rev. Biochem., 61, 1011-1051.
30. Morrical, S.W., Wong, M.L. and Alberts, B.M. (1991) Amplification of snap-back DNA synthesis reactions by the uvsX recombinase of bacteriophage T4. J. Biol. Chem., 266, 14031-14038.
31. Neiditch, M.B., Lee, G.S., Huye, L.E., Brandt, V.L. and Roth D.B. (2002) The V(D)J recombinase efficiently cleaves and transposes signal joints. Mol. Cell, 4, 871-878.
32. Oettinger, M.A., Schatz, D.G., Gorka, C. and Baltimore, D. (1990) RAG-1 and RAG-2, adjacent genes that synergistically activate V(D)J recombination. Science, 248, 1517-1523.
33. O'Neill, J.P., McGinniss, M.J., Berman, J.K., Sullivan, L.M., Nicklas, J.A. and Albertini, R.J. (1987) Refinement of a T-lymphocyte cloning assay to quantify the in vivo thioguanine-resistant mutant frequency in humans. Mutagenesis, 2, 87-94.
34. Rabbitts, T.H. (1994) Chromosomal translocations in human cancer. Nature, 372, 143-149.
35. Sakano, H., Huppi, K., Heinrich, G. and Tonegawa, S. (1979) Sequences at the somatic recombination sites of immunoglobulin light-chain genes. Nature, 280, 288-294.
36. Sawchuk, D.J., Weis-Garcia, F., Malik, S., Besmer, E., Bustin, M., Nussenzweig, M.C. and Cortes, P. (1997) V(D)J recombination: Modulation of RAG1 and RAG2 cleavage activity on 12/23 substrate by whole cell extract and DNA-bending proteins. J. Exp. Med., 185, 2025-2032.
37. Thompson, C.B. (1995) New insights into V(D)J recombination and its role in the evolution of the immune system. Immunity, 3, 531-539.
38. Tonegawa, S. (1983) Somatic generation of antibody diversity. Nature, 302, 575-581.
39. Tycko, B. and Sklar, J. (1990) Chromosomal translocations in lymphoid neoplasia: a reappraisal of the recombinase model. Cancer Cells, 2, 1-8.
40. van Gent, D.C., Mizuuchi, K. and Gellert, M. (1996) Similarities between initiation of V(D)J recombination and retroviral integration. Science, 271, 1592-1594.
41. van Gent, D.C., Hiom, K., Paull, T.T. and Gellert, M. (1997) Stimulation of V(D)J cleavage by high mobility group proteins. EMBO J., 16, 2665-2670.
42. Yoshioka, M., O'Neill, J.P., Vacek, P.M. and Finette, B.A. (2001) Gestational age and gender specific in utero V(D)J recombinase mediated deletions. Cancer Res., 61, 3432-3438.