V(D)J Recombination and Ataxia-telangiectasia: A Review

References

• Aplan P.D., Lombardi D.P., Ginsberg A.M., Cossman J., Bertness V.L., Kirsch I.R. Disruption of the human SCL locus by ‘illegitimate’ V(D)J recombinase activity. Science 1990; 250: 1426–1429
   PubMed Web of Science ®Google Scholar
• Aplan P.D., Lombardi D.P., Reaman G.H., Sather H., Hammond D., Kirsch I.R. Involvement of the putative hematopoietic transcription factor SCL in T-cell acute lymphoblastic leukaemia. Blood 1992; 79: 1327–1333
   PubMed Web of Science ®Google Scholar
• Aurias A. Acquired chromosomal aberrations in normal individuals. the causes and consequences of chromosomal aberrations, I.R. Kirsch. CRC Press, Boca Raton 1993; 125–139, In
   Google Scholar
• Aurias A., Croquette M.F., Nuyts J.P., Griscelli C., Dutrillaux B. New data on clonal anomalies of chromosome 14 in ataxia-telangiectasia: tct (14;14) and inv (14). Human Genetics 1986; 72: 22–24
   PubMed Web of Science ®Google Scholar
• Aurias A., Dutrillaux B., Buriot D., Lejeune J. High frequencies of inversions and translocations of chromosome 7 and 14 in ataxia-telangiectasia. Mutation Research 1980; 69: 369–374
   PubMed Web of Science ®Google Scholar
• Baer R., Heppell A., Taylor A.M.R., Rabbitts P.H., Boullier B., Rabbitts T.H. The break-point of an inversion of chromosome 14 in a T-cell leukeamia: sequences downstran of the immunoglobulin heavy chain locus are implicated in tumorigenesis. Proceedings of the National Academy of Science, USA 1987; 84: 9069–9073
   PubMed Web of Science ®Google Scholar
• Beatty D.W., Arens L.J., Nelson M.M. Ataxiatelangiectasia. X, 14 translocation, progressive deterioration of lymphocyte numbers and function, and abnormal in vitro immunoglobulin production. South African Medical Journal 1986; 69: 115–118
   PubMed Web of Science ®Google Scholar
• Beatty-Desana J.W., Hoggard M.J., Cooledge J.W. Non-random occurrence of 7–14 translocations in human lymphocyte cultures. Nature 1975; 255: 242–243
   Google Scholar
• Bertness V.L., Felix C.A., McBride O.W., Morgan R., Smith S.D., Sandberg A.A., Kirsch I.R. Characterization of the breakpoint of a t(14;14)(q11.2;q32) from the leukaemic cells of a patient with T-cell acute lymphoblastic leukaemia. Cancer Genetics and Cytogenetics 1990; 44: 47–54
   PubMedGoogle Scholar
• Blackwell T.K., Alt F.W. Molecular characterization of the lymphoid V(D)J recombination activity. Journal of Biological Chemistry 1989; 264: 10327–10330
   PubMed Web of Science ®Google Scholar
• Blackwell T.K., Moore M.W., Yancopoulos G.D., Suh H., Lutzker S., Selsing E., Alt F.W. Recombination between immunoglobulin variable region gene segments is enhanced by transcription. Nature 1986; 24: 585–589
   Google Scholar
• Boder E. Ataxia-telangiectasia: an overview. Ataxia Telangiectasia: Genetics, Neuropathology, and Immunology of a Degenerative Disease of Childhood, R.A. Gatti, M. Swift. Alan R. Liss, New York 1985, In
   Google Scholar
• Brito-Babapulle V., Catovsky D. Inversions and tandem translocations involving chromosome 14q11 and 14q32 in T-prolymphocytic leukaemia and T-cell leukaemias in patients with ataxia-telangiectasia. Cancer Genetics and Cytogenetics 1991; 55: 1–9
   PubMed Web of Science ®Google Scholar
• Brito-Babapulle V., Pomfret M., Matutes E., Catovsky D. Cytogenetic studies on prolymphocytic leukaemia. II. T cell prolymphocytic leukaemia. Blood 1987; 70: 926–931
   PubMed Web of Science ®Google Scholar
• Brown L., Cheng J-T, Chen Q., Siciliano M.J., Crist W., Buchanan G., Baer R. Site-specific recombination of the tal-1 gene is a common occurrence in the human T cell leukaemia. EMBO Journal 1990; 9: 3343–3351
   PubMed Web of Science ®Google Scholar
• Butterworth S.V., Taylor A.M.R. A subpopulation of t(2;14)(p11;q23) cells in ataxiatelangiectasia B lymphocytes. Human Genetics 1986; 73: 346–349
   PubMed Web of Science ®Google Scholar
• Butterworth S.V., Taylor A.M.R. A comparison of fresh and cultured T lymphocytes from patients with ataxia-telangiectasia using T-cells subset markers and chromosome translocations. International Journal of Cancer 1987; 39: 678–684
   PubMed Web of Science ®Google Scholar
• Canki N., Tivader I., Zupancic N., Debevec M. Citgenetska studija sedmih bolnic z ataksijotelangiektazijo. Zdrav Vestn 1983; 52: 567–570
   Google Scholar
• Davey M.P., Bertness V., Nakahara K., Johnson J.P., McBride O.W., Waldmann T.A., Kirsch I.R. Juxtaposition of the T-cell receptor α-chain locus(14q11) and a region (14q32) of potential importance in leukemogenesis by a 14;14 translocation in a patient with T-cell chronic lymphocytic leukaemia and ataxia-telangiectasia. Proceedings of the National Academy of Sciences, USA 1988; 85: 9287–9291
   PubMed Web of Science ®Google Scholar
• Denny C.T., Yoshikai Y., Mak T., Smith S., Hollis G.F., Kirsch I.R. A chromosomal inversion in a T cell lymphoma is caused by site-specific recombination between immunoglobulin and T cell receptor loci. Nature 1986; 320: 549–551
   PubMed Web of Science ®Google Scholar
• Felix C.A., Poplack D.G., Reaman G.H., Steinberg S.M., Cole D.E., Taylor B.J., Begley C.G., Kirsch I.R. Characterization of immunoglobulin and T-cell receptor gene patterns in B-cell precursor acute lymphoblastic leukaemia of childhood. Journal of Clinical Oncology 1990; 8: 431–442
   PubMed Web of Science ®Google Scholar
• Fell H.P., Smith R.G., Tucker P.W. Molecular analysis of the t(2;14) translocation of childhood chronic lymphocytic leukaemia. Science 1986; 232: 491–494
   PubMed Web of Science ®Google Scholar
• Fisch P., Forster A., Sherrington P.D., Dyer M.J.S., Rabbitts T.H. The chromosomal translocation t(X;14)(q28;q11) in T-cell pro-lymphocytic leukaemia breaks within one gene and activates another. Oncogene 1993; 8: 3271–3276
   PubMed Web of Science ®Google Scholar
• Gatti R.A., Good R.A. Occurrence of malignancy in immunodeficiency disease. Cancer 1971; 28: 89–98
   PubMed Web of Science ®Google Scholar
• Gritzmacher C.A. Molecular aspects of heavy-chain class switching. Critical Reviews in Immunology 1989; 9: 173–200
   PubMed Web of Science ®Google Scholar
• Hecht F., Hecht B.K., Kirsch I.R. Fragile sites limited to lymphocytes: Molecular recombination and malignancy. Cancer Genetics and Cytogenetics 1987; 26: 95–104
   PubMedGoogle Scholar
• Hecht F., Kaiser McCaw B., Koler R.D. Ataxia-telangiectasia clonal growth of translocation lymphocytes. New England Journal of Medicine 1973; 289: 286–291
   PubMed Web of Science ®Google Scholar
• Hecht F., Kaiser McCaw B., Peakman D., Robinson A. Non-random occurrence of 7–14 translocations in human lymphocyte cultures. Nature 1975; 255: 243–244
   Google Scholar
• Hendrickson E., Schatz D.G., Weaver D.T. The scid gene encodes a trans-acting factor that mediates the rejoining event of Ig gene rearrangement. Genes and Development 1988; 2: 817–829
   PubMed Web of Science ®Google Scholar
• Herva R. Inv(7) as a recurrent aberration in human lymphocyte cultures. Hereditas 1981; 95: 163–164
   PubMed Web of Science ®Google Scholar
• Hsieh C.-L., Arlett C.F., Lieber M.R. V(D)J recombination in ataxia-telangiectasia, Bloom's syndrome, and a DNA ligase I-associated immunodeficiency disorder. Journal of Biological Chemistry 1993; 27: 20105–20109
   Google Scholar
• Hseih C.L., McCloskey R.P., Lieber M.R. V(D)J recombination in minichromosomes is not affected by transcription. Journal of Biological Chemistry 1992; 267: 15613–15619
   PubMed Web of Science ®Google Scholar
• Huo Y.K., Wang Z., Hong J.-H., Chessa L., McBride W.H., Perlman S.L., Gatti R.A. Radiosensitivity of ataxia-telangiectasia, X-linked agammaglobulinemia, and related syndromes using a modified colony survival assay. Cancer Research 1994; 54: 2544–2547
   PubMed Web of Science ®Google Scholar
• Kim M.G., Schuler W., Bosma M.J., Marcu K.B. Abnormal recombination of IgH, D, J gene segments in transformed pre-B cells of scid mice. Journal of Immunology 1988; 141: 1341–1347
   PubMed Web of Science ®Google Scholar
• Kirsch I.R. Genetics of pediatric tumours: the causes and consequences of chromosomal aberrations. Principles and Practice of Pediatric Oncology2nd edn., P.A. Pizzo, D. Poplack. Lippincott, Philadelphia 1993, In
   Google Scholar
• Kirsch I.R., Brown J.A., Lawrence J., Korsmeyer S.J., Morton C.C. Translocation that highlight chromosomal regions of differentiated activity. Cancer Genetics and Cytogenetics 1985; 18: 159–172
   PubMedGoogle Scholar
• Kirsch I.R., Kuehl W.M. Gene rearrangements in lymphoid cells. The Molecular Basis of Blood Diseases2nd edn., G. Stamatoyannopoulos, A.W. Nienhuis, P.W. Majerus, H. Varmus. Saunders, Philadelphia 1993, In
   Google Scholar
• Kobayashi Y., Tycko B., Soreng A.L., Sklar J. Transrearrangement between antigen receptor genes in normal human lymphoid tissues and in ataxiatelangiectasia. Journal of Immunology 1991; 147: 3201–3209
   PubMed Web of Science ®Google Scholar
• Kohn P.H., Whang-Peng J., Levis W.R. Chromosomal instability in ataxia-telangiectasia. Cancer Genetics and Cytogenetics 1982; 6: 289–302
   PubMedGoogle Scholar
• Landau N.R., Schatz D.G., Rosa M., Baltimore D. Increased frequency of N-region insertion in a murine pre-B-cell line infected with a terminal deoxynucleotidyl transferase retroviral expression vector. Molecular and Cellular Biology 1987; 7: 3237–3243
   PubMed Web of Science ®Google Scholar
• Levitt R., Pierre R.V., White W.L., Siekert R.G. Atypical lymphoid leukaemia in ataxiatelangiectasia. Blood 1978; 52: 1003–1011
   PubMed Web of Science ®Google Scholar
• Lieber M.R. The role of site-directed recombinases in physiologic and pathologic chromosomal rearrangements. The causes and Consequences of Chromosomal Aberrations, I.R. Kirsch. CRC Press, Boca Raton 1993; 239–275, In
   Google Scholar
• Lieber M.R., Hesse J.E., Lewis S., Bosma G., Rosenberg N., Mizuuchi K., Bosma M., Gelert M. The defect in murine severe combined immune deficiency: joining of signal sequences but not coding segments in V(D)J recombination. Cell 1988; 55: 7–16
   PubMed Web of Science ®Google Scholar
• Lipkowitz S., Garry V.F., Kirsch I.R. Interlocus V-J recombination measures genomic instability in agricultural workers at risk for lymphoid malignancies. Proceedings of the National Academy of Sciences, USA 1992; 89: 5301–5305
   PubMed Web of Science ®Google Scholar
• Lipkowitz S., Stern M.-H., Kirsch I.R. Hybrid T Cell receptor genes formed by interlocus recombination in normal and ataxia-telangiectasia lymphocytes. Journal of Experimental Medicine 1990; 172: 409–418
   PubMed Web of Science ®Google Scholar
• Liu N., Bryant P.E. Response of ataxiatelangiectasia cells to restriction endonuclease induced DNA double-strand breaks. I. Cytogenetic characterization. Mutagenesis 1993; 8: 503–510
   PubMed Web of Science ®Google Scholar
• Malynn B., Blackwell T.K., Fulop G.M., Rathbun G., Furley A.J., Ferrier P., Heinke L.B., Phillips R.A., Yanacopoulos G.D., Alt F.W. The scid defect affects the final step of the immunoglobulin VDJ recombinase mechanism. Cell 1988; 54: 453–460
   PubMed Web of Science ®Google Scholar
• Mattei M.G., Ayme S., Mattei J.F., Aurran Y., Giraud F. Distribution of spontaneous chromosome breaks in man. Cytogenetics and Cell Genetics 1979; 23: 95–102
   PubMedGoogle Scholar
• McCaw B.K., Hecht F., Harnden D.G., Teplitz R.L. Somatic rearrangements of chromosome 14 in human lymphocytes. Proceedings of the National Academy of Sciences, USA 1975; 72: 2071–2075
   PubMed Web of Science ®Google Scholar
• Menetski J.P., Gellert M. V(D)J recombination activity in lymphoid cell lines is increased by agents that elevate cAMP. Proceedings of the National Academy of Sciences, USA 1990; 87: 9324–9328
   PubMed Web of Science ®Google Scholar
• Mengle-Gaw L., Albertson D.G., Sherrington P.D., Rabbitts T.H. Alaysis of a T-cell tumourspecific breakpoint cluster at human chromosome 14q32. Proceedings of the National Academy of Sciences, USA 1988; 85: 9171–9175
   PubMed Web of Science ®Google Scholar
• Mengle-Gaw L., Willard H.F., Smith C.I.E., Hammarstrom L., Fischer P., Sherrington P., Lucas G., Thompson P.W., Baer R., Rabbitts T.H. Human T-cell tumours containing chromosome 14 inversion or translocation with breakpoints proximal to immunoglobulin joining regions at 14q32. EMBO Journal 1987; 6: 2273–2280
   PubMed Web of Science ®Google Scholar
• Meyn M.S. High spontaneous intrachromosomal recombination rates in ataxia-telangiectasia. Science 1993; 260: 1327–1330
   PubMed Web of Science ®Google Scholar
• Oettinger M.A., Schatz D.G., Gorka C., Baltimore D. RAG-1 and RAG-2, adjacent genes that synergistically activate V(D)J recombination. Science 1990; 248: 1517–1523
   PubMed Web of Science ®Google Scholar
• Okazaki K., Nishikawa S., Sakano H. Aberrant immunoglobulin gene rearrangement in scid mouse bone marrow. Journal of Immunology 1988; 141: 1348–1352
   PubMed Web of Science ®Google Scholar
• Oltz E.M., Alt F.W., Lin W-C., Chen J., Taccioli G., Desiderio S., Rathbun G. A V(D)J recombinase-inducible B-cell line: Role of transcriptional enhancer elements in directing V(D)J recombination. Molecular and Cellular Biology 1993; 13: 3463–3471
   Web of Science ®Google Scholar
• Pandita T.K., Hittelman W.N. Initial chromosome damage but not DNA damage is greater in ataxiatelangiectasia cells. Radiation Research 1992; 130: 94–103
   PubMed Web of Science ®Google Scholar
• Pergola F., Zdzienka M.Z., Lieber M.R. V(D)J recombination in mammalian cell mutants defective in DNA double-strand repair. Molecular and Cellular Biology 1993; 13: 3464–3471
   PubMed Web of Science ®Google Scholar
• Russo G., Isobe M., Gatti R., Finan J., Batuman O., Huebner K., Nowell P.C., Croce C.M. Molecular analysis of a t(14;14) translocation in leukaemic T-cells of an ataxia-telangiectasia patient. Proceedings of the National Academy of Sciences, USA 1989; 86: 602–606
   PubMed Web of Science ®Google Scholar
• Russo G., Isobe M., Pegoraro L., Finan J., Nowell P.C., Croce C.M. Molecular analysis of a t(7;14)(q35;q32) chromosome translocation in a T cell luekaemia of a patient with ataxia-telangiectasia. Cell 1988; 53: 137–144
   PubMed Web of Science ®Google Scholar
• Saxon A., Steven R.H., Golde D.W. Helper and suppressor T-lymphocyte leukaemia in ataxiatelangiectasia. New England Journal of Medicine 1979; 300: 700–704
   PubMed Web of Science ®Google Scholar
• Schatz D.G., Oettinger M.A., Baltimore D. The V(D)J recombination activating gene, RAG-1. Cell 1989; 59: 1035–1048
   PubMed Web of Science ®Google Scholar
• Sparkes R.S., Como R., Golde D.W. Cytogenetic abnormalities in ataxia-telangiectasia with T cell chronic lymphocytic leukaemia. Cancer Genetics and Cytogenetics 1980; 1: 329–336
   Google Scholar
• Stern M.-H. Clonal T-cell proliferations in ataxiatelangiectasia. The causes and Consequences of Chromosomal Aberrations, I.R. Kirsch. CRC Press, Boca Raton 1993; 165–176, In
   Google Scholar
• Stern M.-H., Lipkowitz S., Aurias A., Griscelli C., Thomas G., Kirsch I.R. Inversion of chromosome 7 in ataxia-telangiectasia is generated by a rearrangement between T-cell receptor beta and T-cell receptor gamma genes. Blood 1989; 74: 2076–2080
   PubMed Web of Science ®Google Scholar
• Stern M.-H., Soulier J., Rosenzwajg M., Nakahara K., Canki-Klain N., Aurias A., Sigaux F., Kirsch I.R. MTCP-1: a novel gene on the human chromosome Xq28 translocated to the T-cell receptor α/δ locus in mature T cell proliferations. Oncogene 1993; 8: 2475–2484
   PubMed Web of Science ®Google Scholar
• Stern M.H., Theodorou I., Aurias A., Maier-Redelsperger M., Debre M., Debre P., Griscelli C. T-cell nonmalignant clonal proliferation in ataxia-telangiectasia: a cytological immunological, and molecular characterization. Blood 1989; 73: 1285–1290
   PubMed Web of Science ®Google Scholar
• Taccioli G.E., Rathbun G., Oltz E., Stamato T., Jeggo P.A., Alt F.W. Impairment of V(D)J recombination in double-stranded break repair mutants. Science 1993; 260: 207–210
   PubMed Web of Science ®Google Scholar
• Taylor A.M., Butterworth S.V. Clonal evolution of T-cell chronic lymphocytic leukaemia in a patient with ataxia-telangiectasia. International Journal of Cancer 1986; 37: 511–516
   PubMed Web of Science ®Google Scholar
• Taylor A.M., Lowe P.A., Stacey M., Thick J., Campbell L., Beatty D., Biggs P., Formstone C.J. Development of T-cell leukaemia in an ataxiatelangiectasia patient following clonal selection in t(X;14)-containing lymphocytes. Leukemia 1992; 6: 961–966
   PubMed Web of Science ®Google Scholar
• Taylor A.M.R. Cytogenetics of ataxia-telangiectasia. Ataxia-Telangiectasia. A Cellular Link Between Cancer, Neuropathology, and Immunodeficiency, B.A. Bridges, D.G. Harnden. Wiley, New York 1992; 53–81, In
   Google Scholar
• Thick J., Mak Y.F., Metcalfe J., Beatty D., Taylor A.M. A gene on chromosome Xq28 associated with T-cell prolymphocytic leukaemia in two patients with ataxia-telangiectasia. Leukemia 1994; 8: 564–573
   PubMed Web of Science ®Google Scholar
• Tycko B., Coyle H., Sklar J. Chimeric γ-δ signal joints: implications of the mechanism and regulation of T cell receptor gene rearrangement. Journal of Immunology 1991; 147: 705–713
   PubMed Web of Science ®Google Scholar
• Tycko B., Palmer J.D., Sklar J. T-cell receptor gene trans-rearrangements: chimeric γδ genes in normal lymphoid tissues. Science 1989; 245: 1242–1246
   PubMed Web of Science ®Google Scholar
• Virgilio L., Isobe M., Narducci M.G., Carotenuto P., Camerini B., Kurosawa N., Abbas-ar-Rushdi, Croce C.M., Russo G. Chromosome walking on the TCL1 locus in T-cell neoplasia. Proceedings of the National Academy of Sciences, USA 1993; 90: 9275–9279
   PubMed Web of Science ®Google Scholar
• Wallace C., Bernstein R., Pinto M.R. Nonrandom in vitro 7:14 translocations detected in a routine cytogenetic series: 12 examples of their possible significance. Human Genetics 1984; 66: 157–161
   PubMed Web of Science ®Google Scholar
• Weisenburger D.D. Epidemiology of non-Hodgkin's lymphoma: recent findings regarding an emerging epidemic. Annals of Oncology 1994; 5(Suppl. 1)S19–S24
   PubMedGoogle Scholar
• Welch J.P., Lee C.L.Y. Non-random occurrence of 7–14 translocations in human lymphocyte cultures. Nature 1975; 255: 241–242
   PubMedGoogle Scholar
• Yancopoulos G.D., Alt F.W. Developmentally controlled and tissue-specific expression of unrearranged VH gene segments. Cell 1985; 40: 271–281
   PubMed Web of Science ®Google Scholar
• Zech L., Gahrton G., Hammarstrom L., Juliusson G., Mellstedt H., Robert K.H., Smith C.I.E. Inversion of chromosome 14 marks human T-cell chronic lymphocytic leukaemia. Nature 1984; 308: 858–860
   PubMed Web of Science ®Google Scholar
• Zech L., Haglund U. A recurrent structural aberration t(7;14) in phytohemagglutinin-stimulated lymphocytes. Hereditas 1978; 89: 69–73
   PubMed Web of Science ®Google Scholar