Mutations revealed by sequencing the 5′ half of the gene for ataxia telangiectasia

Human Molecular Genetics

Volumn 5, Issue 1, 1996, Pages 145-149

  Byrd, P J ^a   McConville, C M ^a   Cooper, P ^a   Parkhill, J ^a   Stankovic, T ^a   McGuire, G M ^a   Thick, J A ^a   Taylor, A M R ^a  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SEQUENCE; AMINO TERMINAL SEQUENCE; ARTICLE; ATAXIA TELANGIECTASIA; FRAMESHIFT MUTATION; GENE DELETION; GENE SEQUENCE; HAPLOTYPE; HETEROZYGOTE; HUMAN; HUMAN CELL; IRELAND; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; ATAXIA TELANGIECTASIA; BASE SEQUENCE; CELL CYCLE PROTEINS; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; GENES; HUMANS; MOLECULAR SEQUENCE DATA; PROMOTER REGIONS (GENETICS); PROTEIN-SERINE-THREONINE KINASES; PROTEINS; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; TUMOR SUPPRESSOR PROTEINS;

ATAXIA; ATAXIA TELANGIECTASIA;

EID: 0030049418     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.1.145     Document Type: Article

References (33)

1. Sedgwick R.P. and Boder, E. (1991). Ataxia telangiectasia. In de Jong J.M.B.V. (ed). Handbook of clinical neurology. Hereditary Neuropathies and Spinocerebellar Atrophies Vol 16, Amsterdam, Elsevier Science Publishers BV, p347-423.
2. Taylor, A.M.R. (1992). Ataxia telangiectasia genes and predisposition to leukaemia, lymphoma and breast cancer. Br. J. Cancer. 66, 5-9.
3. Taylor, A.M.R., Harnden, D.G., Arlett, C.F., Harcourt, S.A., Lehmann, A.R., Stevens, S. and Bridges, B.A. (1975). Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity. Nature 258, 427-429.
4. Painter, R.B. (1993). Radiobiology of ataxia telangiectasia. In Gatti, R.A. and Painter, R.B. (eds) Ataxia telangiectasia. NATO ASI Series, H77. Berlin, Heidelberg, Springer Verlag, p 257-268.
5. Kastan, M.B., Zhan, Q , El-Deiry, W.S., Carrier, F., Tyler, J., Walsh, W.V., Plunkett, B.S., Vogelstein, B. and Fornace, A.J. (1992). A mammalian cell cycle checkpoint pathway utilizing p53 and GADD45 is defective in ataxia telangiectasia. Cell 71, 587-595.
6. Lu, X. and Lane, D.P. (1993). Differential induction of transcriptionally active p53 following UV or ionising radiation: defects in chromosome instability syndromes? Cell 75, 765-778.
7. Lipkowitz, S., Stern, M-H. and Kirsch, I. R (1990). Hybrid T cell receptor genes formed by interlocus recombination in normal and ataxia telangiectasia lymphocytes. J. Exp. Med. 172, 409-418.
8. Taylor, A.M.R., McConville, C.M. Rotman, G., Shiloh, Y. and Byrd, P.J. (1994). A haplotype common to intermediate radiosensitivity variants of ataxia telangiectasia in the U.K. Int. J. Radiat. Biol. 66, S35-S41
9. Spector, B.D., Filipovich, A.H., Perry, G.S., and Kersey, K.S. (1982). Epidemiology of cancer in ataxia telangiectasia. In Bridges B.A. and Harnden, D.G. (eds). Ataxia telangiectasia- A Cellular and Molecular Link between Cancer, Neuropathology and immune deficiency. Chichester, Wiley, p 103-138.
10. Taylor, A.M.R., Metcalfe, J.A. Thick, J. and Mak, Y-F. (1996). Lymphoma and leukaemia in ataxia telangiectasia; a review. Blood, (in press)
11. Swift, M., Morrell, D., Massey, R. and Chase C.L. (1991). Cancer incidence in 161 ataxia telangiectasia families studied prospectively. N. Engl. J. Med. 326, 1831-1836.
12. Easton, D.F. (1994). Cancer risks in A-T heterozyotes. Int. J. Radiat. Biol. 66, S177-S182.
13. Savitsky K., Bar-Shira, A., Gilad, S., Rotman, G., Ziv, Y., Vanagaite, L., Tagle, D.A. Smith, S., Uziel, T., Sfez, S., Ashkenazi, M., Pecker, I., Frydman, M., Harnik, R., Sankhavaram, R.P., Simmons, A., Clines, G.A., Sartiel, A., Gatti, R.A., Chessa, L., Sanal, O., Lavin, M.F., Jaspers, N.G.J., Taylor, A.M.R., Arlett, C.F., Miki, T., Weissman, S.M., Lovett, M., Collins, F.S. and Shiloh, J. (1995). A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 268, 1749-17533.
14. Hari , K.L., Santerre, A., Sekelsy, J.J., McKim, K.S., Boyd, J.B. and Hawley, R.S. (1995). The mei-41 gene of D.Melanogaster is a structural and functional homologue of the human ataxia telangiectasia gene. Cell, 82, 815-821.
15. Greenwell, P.W., Kronmal, S.L., Porter, S.E., Gassenhuber, J., Obermaier, B. and Petes, T (1995). TELl, a gene involved in controlling telomere length in S. cerevisiae, is homologous to the human ataxia telangiectasia gene. Cell 82, 823-829.
16. Hartley, K.O., Gell, D., Smith, G C.M., Zhang, H., Divecha, N., Connelly, M.A., Admon, A., Lees-Miller, S.P., Anderson, C.W. and Jackson, S.P. (1995). DNA-dependent protein kinase catalytic subunit: a relative of phosphatidylinositol 3-kinase and the ataxia telangiectasia gene product. Cell 82, 849-856.
17. Liu, Q. and Sommer, S. S, (1995). Restriction endonuclease fingerprinting (REF): a sensitive method for screening mutations in long, contiguous segments of DNA. Biotechniques 18, 470-477 (Euro Edition, May/June 52-59).
18. Riley, J., Butler, R., Ogilvie, D., Finniear, R., Jenner, D., Powell, S., Anand, R., Smith, J.C. and Markham, A.F. (1990). A novel, rapid method for the isolation of terminal sequences from yeast artificial chromosome (YAC) clones. Nucleic Acids Res. 18, 2887-2890.
19. Ghosh, D. (1993). Status of the transcription factors database (TFD). Nucleic Acids Res. 21, 3117-3118.
20. Poteat, H.T., Kadison, P., McGuire, K., Park, L., Park, R.E., Sodroski, J.G. and Haseltine, W.A. (1989). Response of the human T-cell leukaemia virus type 1 long terminal repeat to cyclic AMP. J. Virol. 63, 1604-1611.
21. Lee, K.A.W. and Green, M. R. (1987). A cellular transcription factor E4F1 interacts with an E1A-inducible enhancer and mediates constitutive enhancer function in vitro EMBO J. 6, 1345-1353.
22. Watanabe, H., Wada, T. and Handa, H. (1990). Transcription factor E4TF1 contains two subunits with different functions. EMBO J. 9, 841-847.
23. Nasrin, N., Ercolani, L., Denaro, M., Kong, X.F., Kang, I. and Alexander, M. (1990). An insulin responsive element in the glyceraldehyde-3-phosphate dehydrogenase gene binds a nuclear protein induced by insulin in cultured cells and by nutritional manipulations in vivo. Proc. Natl Acad. Sci. USA 87, 5273-5277.
24. Briggs, M. R , Kadonaga, J.T., Bell, S.P. and Tjian, R. (1986). Purification and biochemical characterization of the promoter specific transcription factor Sp1. Science 234, 47-52.
25. Gavalas, A., Dixon, J.E., Brayton, K.A. and Zalkin, H. (1993). Co-expression of two closely linked avian genes for purine nucleotide synthesis from a bidirectional promoter. Mol. Cell. Biol. 13, 4784-4792.
26. Wright, K.L., White, L.C., Kelly, A., Beck, S., Trowsdale, J and Ting, J.P.-Y. (1995). Co-ordinate regulation of the human TAP1 and LMP2 genes from a shared bidirectional promoter. J. Exp. Med. 181, 1459-1471.
27. Heikkila, P., Soininen, R. and Tryggvason, K. (1993). Directional regulatory activity of cis-acting elements in the bidirectional α1(TV) and α2(IV) collagen gene promoter. J. Biol. Chem. 268, 24677-24682.
28. Shinya, E. and Shimada, T. (1994). Identification of two initiator elements in the bidirectional promoter of the human dihydrofolate reductase and mismatch repair protein 1 genes. Nucleic Acids Res. 22, 2143-2149.
29. Liao, W-C., Geng, Y. and Johnson, L.F. (1994). In vitro transcription of the TATAA-less mouse thymidylate synthase promoter: multiple transcription start points and evidence for bidirectionality. Gene 146, 183-189.
30. Thacker, J. (1994). Cellular radiosensitivity in ataxia telangiectasia. Int. J. Radiat. Biol. 66, S87-S96.
31. Ioannou, P.A., Amemiya, C.T., Garnes, J., Kroisel, P.M., Shizuya, H., Chen, C., Batzer, M.A. and de Jong, P.J. (1994). A new bacteriophage P1-derived vector for the propagation of large DNA fragments. Nature Genet. 6, 84-89.
32. Altschul, S.F., Gish, W., Miller, W., Myers, E.W and Lipman, D.J. (1995). Basic local alignment search tool. J. Mol. Biol. 215, 403-410.
33. Bairoch, A. and Bucher, P. (1994). Prosite-recent developments. Nucleic Acids Res. 22, 3583-3589