Summary
The T cell receptor α chain gene locus and the immunoglobulin heavy chain gene locus (IgH) have previously been mapped to the q11 and q32 positions respectively of the human chromosome 14. Both of these sites are also common breakpoints in lymphocytes from ataxia telangiectasia (A-T) patients. Using in situ hybridisation we show that the 14q32 breakpoint in an A-t non-leukaemic T cell clone with t(14;14) translocation, lies outside the IgH locus and proximal to it with respect to the centromere. The 14q11-14qter segment of the homologous chromosome 14 carrying the constant gene region of the α chain locus is translocated to this 14q32 position.
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Aurias A, Dutrillaux B, Buriot D, Lejeune J (1980) High frequencies of inversion and translocation of chromosomes 7 and 14 in ataxia telangiectasia. Mutat Res 69:369–374
Aurias A, Dutrillaux B, Griscelli C (1983) Tandem translocated t(14;14) in isolated and clonal cells in ataxia telangiectasia are different. Hum Genet 63:320–322
Baer R, Chen K-C, Smith SD, Rabbitts TH (1985) Fusion of an immunoglobulin variable gene and a T-cell receptor constant gene in the chromosome 14 inversion associated with T cell tumours. Cell 43:705–713
Barton P, Malcolm S, Murphy C, Ferguson-Smith MA (1982) Localisation of the human α-globin gene cluster to the short arm of chromosome 16 (16p12-16pter) by hybridisation in situ. J Mol Biol 156:269–278
Collins MKL, Goodfellow PN, Spurr NK, Solomon E, Tanigawa G, Tonegawa S, Owen SJ (1985) The human T cell receptor α chain gene maps to chromosome 14. Nature 314:273–274
Croce CM, Isobe M, Palumbo A, Puck J, Ming J, Tweardy D, Erickson J, Davis M, Rovera G (1985) Gene for α chain of human T cell receptor: location on chromosome 14 region involved in T cell neoplasms. Science 227:1044–1047
de Martinville B, Wyman AR, White R, Francke U (1982) Assignment of the first random restriction fragment length polymorphism (RFLP) locus (D14S1) to a region of chromosome 14. Am J Hum Genet 34:216–226
Donlon TA, Litt M, Newcom SR, Magenis RE (1983) Localisation of the restriction fragment length polymorphism D14S1 (pAW-101) to chromosome 14q32.1-32.2 by in situ hybridisation. Am J Hum Genet 35:1097–1106
Erickson J, Finan J, Vowell PC, Crose CM (1982) Translocation of immunoglobulin VH genes in Burkitt's lymphoma. Proc Natl Acad Sci USA 79:5611–5615
Erickson J, Williams DC, Finan J, Nowell PC, Croce CM (1985) Locus of the α chain of the T cell receptor is split by a chromosome translocation in T cell leukaemias. Science 229:784–786
Flanagan JG, Rabbitts TH (1982) Arrangement of human immunoglobulin heavy chain constant region genes implies evolutionary duplication of segment containing γ, ε, and α genes. Nature 300:709–713
Gelmann EP, Psallidopoulos MC, Papas TS, Dalla Favera R (1983) Identification of reciprocal translocation sites within the c-myc oncogene and immunoglobulin μ locus in a Burkitt lymphoma. Nature 306:799–803
Hamlyn PH, Rabbitts TH (1983) Translocation joins c-myc and immunoglobulin γ1 gene in a Burkitt lymphoma revealing a third exon in the c-myc oncogene. Nature 304:135–139
Hecht F, Kaiser-McCaw B (1982) Ataxia telangiectasia; chromosomes before cancer. In: Bridges BA, Harnden DG (eds) Ataxia telangiectasia. A cellular and molecular link between cancer, neuropathology and immune deficiency. Wiley, Chichester, pp 235–241
Hecht F, Morgan R, Kaiser-McCaw Hecht B, Smith SD (1984) Common region on chromosome 14 in T cell leukaemia and lymphoma. Science 226:1445–1447
Kaiser-McCaw B, Hecht F (1982) Ataxia-telangiectasia; chromosomes and cancer. In: Bridges BA, Harnden DG (eds) Ataxia telangiectasia. A cellular and molecular link between cancer, neuropathology, and immune deficiency. Wiley, Chichester, pp 243–257
Levitt R, Pierre RV, White WL, Siekert RG (1978) Atypical lymphoid leukaemia in ataxia telangiectasia. Blood 52:1003–1011
Lewis WH, Michalpoulos EE, Williams DL, Minden MD, Mak TW (1985) Breakpoints in the human T-cell antigen receptor α chain locus in two T cell leukaemia patients with chromosomal translocations. Nature 317:544–546
McCaw BK, Hecht F, Harnden DG, Teplitz RL (1975) Somatic rearrangement of chromosome 14 in human lymphocytes. Proc Natl Acad Sci USA 72:2071–2075
O'Connor RD, Brown MG, Francke U (1982) Immunologic and karyotypic studies in ataxia telangiectasia; specificity of breakpoints on chromosome 7 and 14 in lymphocytes from patients and relatives. In: Bridges BA, Harnden DG (eds) Ataxia telangiectasia. A cellular and molecular link between cancer, neuropathology and immune deficiency. Wiley, Chichester, pp 251–270
Rabbitts TH, Forster A, Milstein CP (1981) Human immunoglobulin heavy chain genes: evolutionary comparisons of Cμ, Cδ, Cγ genes and associated switch sequences. Nucleic Acids Res 9:4509–4524
Sparkes RS, Como R, Golde DW (1980) Cytogenetic abnormalities in ataxia telangiectasia with T cell chronic lymphocytic leukaemia. Cancer Genet Cytogenet 1:329–336
Spector BD, Filipovich AH, Perry GS, Kersey JH (1982) Epidemiology of cancer in ataxia telangiectasia. In: Bridges BA, Harnden DG (eds) Ataxia telangiectasia. A cellular and molecular link between cancer, neuropathology and immune deficiency. Wiley, Chichester, pp 103–138
Taub R, Kirsch I, Morton C, Lenoir G, Swan D, Tronick S, Aaronson S, Leder P (1982) Translocation of the c-myc gene into the immunoglobulin heavy chain locus in human Burkitt lymphoma and murine plasmocytoma cells. Proc Natl Acad Sci USA 79:7837–7841
Taylor AMR (1982) Cytogenetics of ataxia telangiectasia. In: Bridges BA, Harnden DG (eds) Ataxia telangiectasia. A cellular and molecular link between cancer, neuropathology and immune deficiency. Wiley, Chichester, pp 53–82
Taylor AMR, Butterworth SV (1986) Clonal evolution of T cell chronic lymphocytic leukaemia in a patient with ataxia telangiectasia. Int J Cancer 37:511–516
Taylor AMR, Oxford JM, Metcalfe JA (1981) Spontaneous cytogenetic abnormalities in lymphocytes from thirteen patients with ataxia telangiectasia. Int J Cancer 27:311–319
Ueshima Y, Rowley JD, Variakojis D, Winter J, Gordon L (1984) Cytogenetic studies on patients with chronic T cell leukaemia/lymphoma. Blood 63:1028–1038
Williams DL, Look AT, Melvin SL, Roberson PK, Dahl G, Flake T, Stass S (1984) New chromosomal translocation correlate with specific immunophenotypes of childhood acute lymphoblastic leukaemia. Cell 36:101–109
Zech L, Hammarstrom L, Smith CIE (1983) Chromosomal aberrations in a case of T-cell CLL with concomitant IgA myeloma. Int J Cancer 32:431–435
Zech L, Gahrton G, Hammarstrom L, Juliusson G, Mellstedt H, Robert KH, Smith CIE (1984) Inversion of chromosome 14 marks human T cell chronic lymphocytic leukaemia. Nature 308:858–860
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Kennaugh, A.A., Butterworth, S.V., Hollis, R. et al. The chromosome breakpoint at 14q32 in an ataxia telangiectasia t(14;14) T cell clone is different from the 14q32 breakpoint in Burkitts and an inv(14) T cell lymphoma. Hum Genet 73, 254–259 (1986). https://doi.org/10.1007/BF00401239
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DOI: https://doi.org/10.1007/BF00401239