Analysis of Secondary V(D)J Rearrangements in Mature, Peripheral T Cells of Ataxia-Telangiectasia Heterozygotes

Laboratory Investigation

Volumn 83, Issue 10, 2003, Pages 1467-1475

  Lantelme, Erica ^a   Turinetto, Valentina ^a   Mantovani, Stefania ^b   Marchi, Antonietta ^c   Regazzoni, Silvia ^a   Porcedda, Paola ^a   De Marchi, Mario ^a   Giachino, Claudia ^a,b,d  

^a UNIVERSITY OF TURIN   (Italy)

^b IRCCS   (Italy)

^c UNIVERSITY OF PAVIA   (Italy)

^d Dept of Clin and Biol Sciences ^*  (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CD4 ANTIGEN; CELL PROTEIN; IMMUNOGLOBULIN; LIGASE; RECOMBINASE; RECOMBINATION ACTIVATING GENE PROTEIN; T LYMPHOCYTE RECEPTOR; T LYMPHOCYTE RECEPTOR ALPHA CHAIN; T LYMPHOCYTE RECEPTOR BETA CHAIN; UNCLASSIFIED DRUG;

ARTICLE; ATAXIA TELANGIECTASIA; CANCER RISK; CELL MATURATION; CELL SURFACE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CYTOFLUOROMETRY; GENE; GENE ACTIVATION; GENE EXPRESSION; GENE FREQUENCY; GENE FUNCTION; GENE REARRANGEMENT; GENE TRANSLOCATION; GENETIC PREDISPOSITION; GENETIC RECOMBINATION; HETEROZYGOTE; HIGH RISK POPULATION; HOMOZYGOTE; HUMAN; HUMAN CELL; LYMPHOCYTE CULTURE; MEMORY CELL; MORTALITY; PERIPHERAL LYMPHOCYTE; PHENOTYPE; PLEIOTROPY; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN VARIANT; QUANTITATIVE ANALYSIS; RECEPTOR DENSITY; RECESSIVE INHERITANCE; RECOMBINASE GENE; RECOMBINATION ACTIVATING GENE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RISK FACTOR; SEQUENCE ANALYSIS; T CELL LEUKEMIA; T CELL LYMPHOMA; T LYMPHOCYTE; T LYMPHOCYTE SUBPOPULATION;

ATAXIA TELANGIECTASIA; CD4-POSITIVE T-LYMPHOCYTES; CELL LINE; DNA NUCLEOTIDYLTRANSFERASES; FEMALE; GENE REARRANGEMENT, T-LYMPHOCYTE; HETEROZYGOTE; HOMEODOMAIN PROTEINS; HUMANS; MALE; RECEPTORS, ANTIGEN, T-CELL, ALPHA-BETA; RECOMBINASES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; T-LYMPHOCYTE SUBSETS;

EID: 0142043004     PISSN: 00236837     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.LAB.0000092228.51605.6A     Document Type: Article

References (52)

1. Agrawal A, Eastman QM, and Schatz DG (1998). Transposition mediated by RAG1 and RAG2 and its implications for the evolution of the immune system. Nature 394:744-751.
2. Akiyama M, Kyoizumi S, Hirai Y, Kusunoki Y, Iwamoto KS, and Nakamura N (1995). Mutation frequency in human blood cells increases with age. Mutat Res 338:141-149.
3. Bakhshi A, Wright JJ, Graninger W, Seto M, Owens J, Cossman J, Jensen JP, Goldman P, and Korsmeyer SJ (1987). Mechanism of the t(14;18) chromosomal translocation: Structural analysis of both derivative 14 and 18 reciprocal partners. Proc Natl Acad Sci USA 84:2396-2400.
4. Barlow C, Eckhaus MA, Schaffer AA, and Wynshaw-Boris A (1999). Atm haploinsufficiency results in increased sensitivity to sublethal doses of ionizing radiation in mice. Nat Genet 21:359-360.
5. Bebb DG, Warrington PJ, de Jong G, Yu Z, Moffat JA, Skov K, Spacey S, Gelmon K, and Glickman BW (2001). Radiation induced apoptosis in ataxia telangiectasia homozygote, heterozygote and normal cells. Mutat Res 476:13-20.
6. Boultwood J (2001). Ataxia telangiectasia gene mutations in leukaemia and lymphoma. J Clin Pathol 54:512-516.
7. Delia D, Mizutani S, Panigone S, Tagliabue E, Fontanella E, Asada M, Yamada T, Taya Y, Prudente S, Saviozzi S, Frati L, Pierotti MA, and Chessa L (2000). ATM protein and p53-serine 15 phosphorylation in ataxia-telangiectasia (AT) patients and at heterozygotes. Br J Cancer 82:1938-1945.
8. Geoffroy-Perez B, Janin N, Ossian K, Lauge A, Croquette MF, Griscelli C, Debre M, Bressac-de-Paillerets B, Aurias A, Stoppa-Lyonnet D, and Andrieu N (2001). Cancer risk in heterozygotes for ataxia-telangiectasia. Int J Cancer 93:288-293.
9. Giovannetti A, Mazzetta F, Caprini E, Aiuti A, Marziali M, Pierdominici M, Cossarizza A, Chessa L, Scala E, Quinti I, Russo G, and Fiorilli M (2002). Skewed T-cell receptor repertoire, decreased thymic output, and predominance of terminally differentiated T cells in ataxia telangiectasia. Blood 100:4082-4089.
10. Golub R (2002). V gene replacement in T and B lymphocytes: Illicit or regimented rearrangement? Arch Immunol Ther Exp (Warsz) 50:255-262.
11. Golub R, Huang CY, Kanagawa O, and Wu GE (2001). Vα gene replacement in a TCRα knock-in mouse. Eur J Immunol 31:2919-2925.
12. Haluska FG, Finver S, Tsujimoto Y, and Croce CM (1986). The t(8;14) chromosomal translocation occurring in B-cell malignancies results from mistakes in V-D-J joining. Nature 324:158-161.
13. Han S, Dillon SR, Zheng B, Shimoda M, Schlissel MS, and Kelsoe G (1997). V(D)J recombinase activity in a subset of germinal center B lymphocytes. Science 278:301-305.
14. Hiom K, Melek M, and Gellert M (1998). DNA transposition by the RAG1 and RAG2 proteins: A possible source of oncogenic translocations. Cell 94:463-470.
15. Hirota H, Kubota M, Adachi S, Okuda A, Lin YW, Bessho R, Wakazono Y, Matsubara K, Kuwakado K, Akiyama Y, and Tsutsui T (1994). Somatic mutations at T-cell antigen receptor and glycophorin A loci in pediatric leukemia patients following chemotherapy: Comparison with HPRT locus mutation. Mutat Res 315:95-103.
16. Isoda A, Yokohama A, Matsushima T, Tsukamoto N, Nojima Y, and Karasawa M (2002). The naive T-lymphocyte compartment is well preserved in patients with chronic myelogenous leukaemia in chronic phase. Br J Haematol 119:949-955.
17. Itoh K, Meffre E, Albesiano E, Farber A, Dines D, Stein P, Asnis SE, Furie RA, Jain RI, and Chiorazzi N (2000). Immunoglobulin heavy chain variable region gene replacement as a mechanism for receptor revision in rheumatoid arthritis synovial tissue B lymphocytes. J Exp Med 192:1151-1164.
18. Khanna KK (2000). Cancer risk and the ATM gene: A continuing debate. J Natl Cancer Inst 92:795-802.
19. + T cells. J Exp Med 171:1981-1999.
20. low peripheral T lymphocytes in patients with detective responses to DNA damage. Eur J Immunol 30:1520-1525.
21. low, mature T lymphocytes. J Immunol 164:3455-3459.
22. Lavin MF and Shiloh Y (1997). The genetic defect in ataxia-telangiectasia. Annu Rev Immunol 15:177-202.
23. Liao M-J and Van Dyke T (1999). Critical role for Atm in suppressing V(D)J recombination-driven thymic lymphoma. Genes Dev 13:1246-1250.
24. + T cells. Immunity 9:637-647.
25. Meffre E, Davis E, Schiff C, Cunningham-Rundles C, Ivashkiv LB, Staudt LM, Young JW, and Nussenzweig MC (2000). Circulating human B cells that express surrogate light chains and edited receptors. Nat Immunol 1:207-213.
26. Messier TL, O'Neill JP, Hou S-M, Nicklas JA, and Finette BA (2003). In vivo transposition mediated by V(D)J recombinase in human T lymphocytes. EMBO J 22:1381-1388.
27. Neubauer S, Arutyunyan R, Stumm M, Dork T, Bendix R, Bremer M, Varon R, Sauer R, and Gebhart E (2002). Radiosensitivity of ataxia telangiectasia and Nijmegen breakage syndrome homozygotes and heterozygotes as determined by three-color FISH chromosome painting. Radiat Res 157:312-321.
28. + lymphocytes in patients with ataxia-telangiectasia. J Clin Immunol 12:84-91.
29. Papavasiliou F, Casellas R, Suh H, Qin XF, Besmer E, Pelanda R, Nemazee D, Rajewsky K, and Nussenzweig MC (1997). V(D)J recombination in mature B cells: A mechanism for altering antibody responses. Science 278:298-301.
30. Petiniot LK, Weaver Z, Barlow C, Shen R, Eckhaus M, Steinberg SM, Ried T, Wynshaw-Boris A, and Hodes RJ (2000). Recombinase-activating gene (RAG) 2-mediated V(D)J recombination is not essential for tumorigenesis in Atm-deficient mice. Proc Natl Acad Sci USA 97:6664-6669.
31. + T cells closely correlates with CD56 surface expression. J Immunol 164:1148-1152.
32. Rabbitts TH (1994). Chromosomal translocations in human cancer. Nature 372:143-149.
33. Radic MZ, Erikson J, Litwin SL, and Weigert M (1993). B lymphocytes may escape tolerance by revising their antigen receptors. J Exp Med 177:1165-1173.
34. Radic MZ and Zouali M (1996). Receptor editing, immune diversification, and self-tolerance. Immunity 5:505-511.
35. Rajewsky K (1998). Burnet's unhappy hybrid. Nature 394:624-625.
36. Schlissel M, Constantinescu A, Morrow T, Baxter M, and Peng A (1993). Double-strand signal sequence breaks in V(D)J recombination are blunt, 5′-phosphorylated, RAG-dependent, and cell cycle regulated. Genes Dev 7:2520-2532.
37. + T cell subsets in ataxia telangiectasia. Clin Exp Immunol 129:125-132.
38. Shiloh Y (1997). Ataxia-telangiectasia and the Nijmegen breakage syndrome: Related disorders but genes apart. Annu Rev Genet 31:635-662.
39. Smilenov LB, Brenner DJ, and Hall EJ (2001). Modest increased sensitivity to radiation oncogenesis in ATM heterozygous versus wild-type mammalian cells. Cancer Res 61:5710-5713.
40. Stoppa-Lyonnet D, Soulier J, Lauge A, Dastot H, Garand R, Sigaux F, and Stern MH (1998). Inactivation of the ATM gene in T-cell prolymphocytic leukemias. Blood 91:3920-3926.
41. Stumm M, Neubauer S, Keindorff S, Wegner RD, Wieacker P, and Sauer R (2001). High frequency of spontaneous translocations revealed by FISH in cells from patients with the cancer-prone syndromes ataxia telangiectasia and Nijmegen breakage syndrome. Cytogenet Cell Genet 92:186-191.
42. Su Y and Swift M (2000). Mortality rates among carriers of ataxia-telangiectasia mutant alleles. Ann Intern Med 133:770-778.
43. Swift M (2001). Public health burden of cancer in ataxia-telangiectasia heterozygotes. J Natl Cancer Inst 93:84-85.
44. Swift M, Morrell D, Massey RB, and Chase CL (1991). Incidence of cancer in 161 families affected by ataxia-telangiectasia. N Engl J Med 325:1831-1836.
45. Taylor AM, Metcalfe JA, Thick J, and Mak Y-F (1996). Leukemia and lymphoma in ataxia telangiectasia. Blood 87:423-438.
46. Tiegs SL, Russell DM, and Nemazee D (1993). Receptor editing in self-reactive bone marrow B cells. J Exp Med 177:1009-1020.
47. Tycko B and Sklar J (1990). Chromosomal translocations in lymphoid neoplasia: A reappraisal of the recombinase model. Cancer Cells 2:1-8.
48. Vorechovsky I, Luo L, Dyer MJ, Catovsky D, Amlot PL, Yaxley JC, Foroni L, Hammarstrom L, Webster AD, and Yuille MA (1997). Clustering of missense mutations in the ataxia-telangiectasia gene in a sporadic T-cell leukaemia. Nat Genet 17:96-99.
49. Watts JA, Morley M, Burdick JT, Fiori JL, Ewens WJ, Spielman RS, and Cheung VG (2002). Gene expression phenotype in heterozygous carriers of ataxia telangiectasia. Am J Hum Genet 71:791-800.
50. West CM, Elyan SA, Berry P, Cowan R, and Scott D (1995). A comparison of the radiosensitivity of lymphocytes from normal donors, cancer patients, individuals with ataxia-telangiectasia (A-T) and A-T heterozygotes. Int J Radiat Biol 68:197-203.
51. Xu Y and Baltimore D (1996). Dual roles of ATM in the cellular response to radiation and in cell growth control. Genes Dev 10:2401-2410.
52. Yuille MA, Coignet LJ, Abraham SM, Yaqub F, Luo L, Matutes E, Brito-Babapulle V, Vorechovsky I, Dyer MJ, and Catovsky D (1998). ATM is usually rearranged in T-cell prolymphocytic leukaemia. Oncogene 16:789-796.