Ataxia-telangiectasia and the ATM gene: Linking neurodegeneration, immunodeficiency, and cancer to cell cycle checkpoints

Journal of Clinical Immunology

Volumn 16, Issue 5, 1996, Pages 254-260

  Shiloh, Yosef ^a   Rotman, Galit ^a  

^a TEL AVIV UNIVERSITY   (Israel)

Author keywords

apoptosis; ataxia telangiectasia; ATM gene; cell cycle; checkpoint; DNA damage; immunodeficiency; signal transduction

Indexed keywords

PHOSPHATIDYLINOSITOL 3 KINASE;

APOPTOSIS; ATAXIA TELANGIECTASIA; CANCER; CELL CYCLE; DNA DAMAGE; DNA REPAIR; HUMAN; IMMUNE DEFICIENCY; PRIORITY JOURNAL; REVIEW; SIGNAL TRANSDUCTION;

ANIMALS; ATAXIA TELANGIECTASIA; CELL CYCLE; GENES, NEOPLASM; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES;

EID: 0029820057     PISSN: 02719142     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01541389     Document Type: Review

References (95)

1. Gatti RA, Boder E, Vinter HV, Sparkes RS, Norman A, Lange K: Ataxia-telangiectasia: An interdisciplinary approach to pathogenesis. Medicine 70:99-117, 1991
2. Swift M, Heim RA, Lench NJ: Genetic aspects of ataxia telangiectasia. Adv Neurol 61:115-125, 1993
3. Taylor AMR, Byrd PJ, McConville CM, Thacker S: Genetic and cellular features of ataxia telangiectasia. Int J Radiat Biol 65:65-70, 1994
4. Shiloh, Y: Ataxia-telangiectasia: Closer to unraveling the mystery. Eur J Hum Genet 3:116-138, 1995
5. Waldmann TA: Immunological abnormalities in ataxia-telangiectasia. In Ataxia-Telangiectasia - A Cellular and Molecular Link Between Cabcer, Neuropathology and Immune Deficiency, BA Bridges, DG Harnden (eds). Chichester, John Wiley and Sons, 1982, pp 37-51
6. Fiorilli M, Businco L, Pandolfi F, Paganelli R, Russo G, Aiuti F: Heterogeneity of immunological abnormalities in ataxia telangiectasia. J Clin Immunol 3:135-141, 1983
7. Aucouturier P, Bremard-Oury C, Griscelli C, Berthier M, Preud'homme JL: Serum IgG subclass deficiency in ataxia-telangiectasia. Clin Exp Immunol 68:392-396, 1987
8. Morrell D, Chase CL, Swift M: Cancers in 44 families with ataxia-telangiectasia. Cancer Genet Cytogenet 50:119-123, 1990
9. Cunliffe PN, Mann JR, Cameron AH, Roberts KD: Radiosensitivity in ataxia telangiectasia. Br J Radiol 48:374-376, 1975
10. Lehmann AR: The cellular and molecular responses of ataxia-telangiectasia cells to DNA damage. In Ataxia-Telangiectasia - A Cellular and Molecular Link Between Cancer. Neuropathology and Immune Deficiency, BA Bridges, DG Harnden (eds). Chichester, John Wiley & Sons, 1982, pp 83-102
11. Shiloh Y, Tabor E, Becker Y: In-vitro phenotype of A-T fibroblast strains: clues to the nature of the "A-T DNA lesion" and the molecular detect in A-T. In Ataxia-Telangiectasia: Genetics Neuropathology and Immunology of a Degenerative Disease of Childhood, RA Gatti, M Swift (eds). New York, Alan R. Liss, 1985, pp 111-121
12. Taylor AMR: Cytogenetics in ataxia-telangiectasia. In Ataxia-Telangiectasia - A Cellular and Molecular Link between Cancer, Neuropathology and Immune Deficiency, BA Bridges, DG Harnden (eds). Chichester, John Wiley & Sons, 1982, pp 53-81
13. Kojis TL, Gatti RA, Sparkes RS: The cytogenetics of ataxia telangiectasia. Cancer Genet Cytogenet 56:143-156, 1991
14. Taylor AMR, Butterworth SV: Clonal evolution of T-cell chronic lymphocytic leukemia in a patient with ataxia-telangiectasia. Int J Cancer 37:511-516, 1986
15. Thick J, Sherrington PD, Fisch P, Taylor AMR, Rabbitts TH: Molecular analysis of a new translocation, t(X;14)(q28;q11), in a premalignancy and in leukaemia associated with ataxia telangiectasia. Genes Chromosomes Cancer 5:321-325, 1992
16. Sherrington PD, Fisch P, Taylor AMR, Rabbitts TH: Clonal evolution of malignant and non-malignant T cells carrying t(14;14) and t(X;14) in patients with ataxia telangiectasia. Oncogene 9:2377-2381, 1994
17. Swift M, Reitnauer PJ, Morrell D, Chase CL: Breast and other cancers in families with ataxia-telangiectasia. N Engl J Med 316:1289-1294, 1987
18. Swift M, Morrell D, Massey RB, Chase CL: Incidence of cancer in 161 families affected by ataxia-telangiectasia. N Engl J Med 325:1831-1836, 1991
19. Easton DF: Cancer risks in A-T heterozygotes. Int J Radiat Biol 66: S177-S182, 1994
20. Arlett CF, Priestley A: An assessment of the radiosensitivity of ataxia-telangiectasia heterozygotes. In Ataxia-Telangiectasia: Genetics, Neuropathology and Immunology of a Degenerative Disease of Childhood, Gatti RA, Swift M (eds). New York, Alan R. Liss, 1985, pp 101-109
21. Rudolph NS, Nagasawa H, Little JB, LAtt SA: Identification of ataxia-telangiectasia heterozygotes by flow cytometric analysis of X-ray damage. Mutat Res 211:19-29, 1989
22. Scott D, Jones LA, Elyan SAG, Spreadborough A, Cowan R, Ribiero G: Identification of A-T heterozygotes. In Ataxia-Telangiectasia, RA Gatti, RB Painter (eds). NATO ASI Series, Series H: Cell Biology, Vol 77, New York, Springer-Verlag, 1993, pp 101-116
23. Shiloh Y, Tabor E, Becker Y: Abnormal response of ataxia-telangiectasia cells to agents that break the deoxyribose moiety of DNA via a targeted free radical mechanism. Carcinogenesis 1317-1322, 1983
24. Cornforth MN, Bedford JS: On the nature of a defect in cells from individuals with ataxia-telangiectasia. Science 227:1589-1591, 1985
25. Houldsworth J, Lavin MF: Effect of ionizing radiation on DNA synthesis in ataxia telangiectasia cells. Nucleic Acids Res 8:3709-3720, 1980
26. Painter RB: Altered DNA synthesis in irradiated and unirradiated ataxia-telangiectasia cells. In Ataxia-Telangiectasia: Genetics, Neuropathology and Immunology of a Degenerative Disease of Childhood, RA Gatti, M Swift (eds). New York, Alan R. Liss, 1985, pp 89-100
27. Scott D, Zampetti-Bosseler F: Cell cycle dependence of mitotic delay in X-irradiated normal and ataxia-telangiectasia fibroblasts. Int J Radiat Biol 42:679-683, 1982
28. Rudolph NS, Latt SA: Flow cytometric analysis of X-ray sensitivity in ataxia-telangiectasia. Mutat Res 211:31-41, 1989
29. Beamish H, Khanna KK, Lavin MF: Ionizing radiation and cell cycle progression in ataxia telangiectasia. Radiat Res 138:S130-S133, 1994
30. Hartwell L, Kastan M: Cell cycle control and cancer. Science 266:1821-1828, 1994
31. Carr AM: Radiation checkpoints in model systems. Int J Radiat Biol 66:S133-S139, 1994
32. Kamb A: Cell cycle regulators and cancer. Trends Genet 11:136-140, 1995
33. Murray AW: The genetics of cell cycle checkpoints. Curr Biol 5:5-11, 1995
34. Lydall D, Weinert T: Yeast checkpoint genes in DNA damage processing: Implications for repair and arrest. Science 270:1488-1491, 1995
35. Cox LS, Lane DP: Tumor suppressor, kinases and clamps: How p53 regulates the cell cycle in response to DNA damage. BioEssays 17:501-508, 1995
36. Kastan MB, Zhan Q, El-Deiry WS, Carrier F, Jacks T, Walsh WV, Plunkett BS, Vogelstein B, Fornace AJ: A mammalian cell cycle checkpoint pathway utilizing p53 and GADD45 is defective in ataxia-telangiectasia. Cell 71:587-597, 1992
37. Lu X, Lane DP: Differential induction of transcriptionally active p53 following UV or ionizing radiation: Defects in chromosome instability syndromes? Cell 75:765-778, 1993
38. Khanna KK, Lavin MF: Ionizing radiation and UV induction of p53 protein by different pathways in ataxia-telangiectasia cells. Oncogene 8:3307-3312, 1993
39. Lavin MF, Khanna KK, Beamish H, Teale B, Hobson K, Watters D: Defect in radiation signal transduction in ataxia-telangiectasia. Int J Radiat Biol 66:S151-S156, 1994
40. Meyn MS, Strasfeld L, Allen C: Testing the role of p53 in the expression of genetic instability and apoptosis in ataxia-telangiectasia. Int J Radiat Biol 66:S141-S149, 1994
41. Meyn MS: Ataxia-telangiectasia and cellular responses to DNA damage. Cancer Res 55:5991-6001, 1995
42. Gatti RA, Berkel I, Boder E, Braedt G, Charmley P, Concannon P, Ersoy F, Foroud T, Jaspers NGJ, Lange K, Lathrop GM, Leppert M, Nakamura Y, O'Connel P, Paterson M, Salser W, Sanal O, Silver J, Sparkes RS, Susi E, Weeks DE, Wei S, White R, Yoder F: Localization of an ataxia- telangiectasia gene to chromosome 11q22-23. Nature 336:577-580, 1988
43. McConville CM, Byrd PJ, Ambrose HJ, Taylor AMR: Genetic and physical mapping of the ataxia-telangiectasia locus on chromosome 11q22-23. Int J Radiat Biol 66:S45-S56, 1994
44. Rotman G, Savitsky K, Vanagaite L, Bar-Shira A, Ziv Y, Gilad S, Uchenik V, Smith S, Shiloh Y: Physical and genetic mapping at the ATA/ATC locus on chromosome 11q22-23. Int J Radiat Biol 66:S63-S66, 1994
45. Lange E, Borreson A-L, Chen X, Chessa L, Chiplunkar S, Concannon P, Dandekar S, Gerken S, Lange K, Liang T, McConville C, Polakow J, Porras O, Rotman G, Sanal O, Telatar M, Sheikhavandi S, Shiloh Y, Sobel E, Taylor M, Udar N, Uhrhammer N, Vanagaite L, Wang Z, Yang H-M, Yang L, Ziv Y, Gatti RA: Localization of an ataxia-telangiectasia gene to a 850 kb interval on chromosome 11q23.1 by linkage analysis of 176 families in an international consortium. Am J Hum Genet 57:112-119, 1995
46. Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, Tagle DA, Smith S, Uziel T, Sfez S, Ashkenazi M, Pecker I, Frydman M, Harnik R, Patanjali SR, Simmons A, Clines GA, Sartiel A, Gatti RA, Chessa L, Sanal O, Lavin MF, Jaspers NGJ, Taylor AMR, Arlett CF, Miki T, Weissman S, Lovett M, Collins FS, Shiloh Y: A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 268:1749-1753, 1995
47. Savitsky K, Sfez S, Tagle D, Ziv Y, Sartiel A, Collins FS, Shiloh Y, Rotman G: The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species. Hum Mol Genet 4:2025-2032, 1995
48. Uziel T, Savitsky K, Platzer M, Ziv Y, Helbitz T, Nehls M, Boehm T, Rosenthal A, Shiloh Y, Rotman G: Genomic organization of the ATM gene. Genomics 33:317-320, 1996
49. Zakian VA: ATM-related genes: What do they tell us about functions of the human gene? Cell 82:685-687, 1995
50. Keith CT, Schreiber SL: PIK-related kinases: DNA repair, recombination, and cell cycle checkpoints. Science 270:50-51, 1995
51. Greenwell PW, Kronmal SL, Porter SE, Gassenhuber J, Obermaier B, Petes TD: TEL1, a gene involved in controlling telomere length in Saccharomyces cerevisiae, is homologous to the human ataxia telangiectasia (ATM) gene. Cell 82:823-829, 1995
52. Morrow DM, Tagle DA, Shiloh Y, Collins FS, Hieter P: TEL1, a Saccharomyces cerevisiae homologue of the human gene mutated in ataxia telangiectasia, is functionally related to the yeast checkpoint gene MEC1/ESR1. Cell 82:831-840, 1995
53. Pandita TK, Pathak S, Geard C: Chromosome end associations, telomeres and telomerase activity in ataxia telangiectasia cells. Cytogenet Cell Genet 71:86-93, 1995
54. Hastie ND, Dempster M, Dunlop MG, Thompson AM, Green DK, Allshire RC: Telomere reduction in human colorectal carcinoma and with ageing. Nature 346:866-868, 1990
55. Harley CB, Futcher AB, Greider CW: Telomeres shorten during aging of human fibroblasts. Nature 345:458-460, 1990
56. Weinert TA, Kiser GL, Hartwell LH: Mitotic checkpoint genes in budding yeast and the dependence of mitosis on DNA replication and repair. Genes Dev 8:652-665, 1994
57. Kato R, Ogawa H: An essential gene, ESR1, is required for mitotic cell growth, DNA repair and meiotic recombination in Saccharomyces cerevisiae. Nucleic Acids Res 22:3104-3112, 1994
58. Allen JB, Zhou Z, Siede W, Friedberg EC, Elledge SJ: The SAD1/RAD53 protein kinase controls multiple checkpoints and DNA damage-induced transcription in yeast. Genes Dev 8:2401-2415, 1994
59. Paulovich AG, Hartwell LH: A checkpoint regulates the rate of progression through S phase in S. cerevisiae in response to DNA damage. Cell 82:841-847, 1995
60. Al-Khodairy F, Carr AM: DNA repair mutants defining G2 checkpoint pathways in Schizosaccharomyces pombe. EMBO J 11:1343-1350, 1992
61. + gene of Schizosaccharomyces pombe is involved in multiple checkpoint functions and in DNA repair. Proc Natl Acacl Sci USA 89:4952-4956, 1992
62. Enoch T, Carr AM, Nurse P: Fission yeast genes involved in coupling mitosis to completion of DNA replication. Genes Dev 6:2035-2046, 1992
63. Al-Khodairy F, Fotou E, Sheldrick KS, Griffiths DJF, Lehmann AR, Carr AM: Identification and characterization of new elements involved in checkpoints and feedback controls in fission yeast. Mol Biol Cell 5:147-160, 1994
64. Hari KL, Santerre A, Sekelsky JJ, McKim KS, Boyd JB, Hawley RS: The mei-41 gene of Drosophila melanogaster is functionally homologous to the human ataxia telangiectasia gene. Cell 82:815-821, 1995
65. Boyd JB, Golino MD, Nguyen TD, Green MM: Isolation and characterization of X-linked mutants of Drosophila melanogaster which are sensitive to mutagens. Genetics 84:485-506, 1976
66. Banga SS, Shenkar R, Boyd JB: Hypersensitivity of Drosophila mei-41 mutants to hydroxyurea is associated with reduced mitotic chromosome stability. Mutat Res 163:157-165, 1986
67. Cimprich KA, Shin TB, Keith CT, Schreiber SL: cDNA cloning and gene mapping of a candidate human cell cycle checkpoint protein. Proc Natl Acad Sci USA 93:2850-2855, 1996
68. Heitman J, Movva NR, Hall MN: Targets for cell cycle arrest by the immunosuppressant rapamycin in yeast. Science 253:905-909, 1991
69. Cafferkey R, Young P, McLaughlin MM, Bergsma DJ, Koltin Y, Sathe GM, Faucette L, Eng WK, Johnson RK, Livi GP: Dominant missense mutations in a novel yeast protein related to mammalian phosphatidylinositol 3-kinase and VPS34 abrogate rapamycin cytotoxicity. Mol Cell Biol 13:6012-6023, 1993
70. Kunz J, Henriquez R, Schneider U, Deuter-Reinhard M, Movva NR, Hall MN: Target of rapamycin in yeast, TOR2, is an essential phosphatidylinositol kinase homolog required for G1 progression. Cell 73:585-596, 1993
71. Helliwell SB, Wagner P, Kunz J, Deuter-Reinhard M, Henriquez R, Hall MN: TOR1 and TOR2 are structurally and functionally similar but not identical phosphatidylinositol kinase homologues in yeast. Mol Biol Cell 5:105-118, 1994
72. Sabers CJ, Martin MM, Brunn GJ, Williams JM, Dumont FJ, Wiederrecht G, Abraham RT: Isolation of a protein target of the FKBP12-rapamycin complex in mammalian cells. J Biol Chem 270:815-822, 1995
73. Sabatini DM, Erdjument-Bromage H, Lui M, Tempst P, Snyder SH: RAFT1: A mammalian protein that binds to FKBP12 in a rapamycin-dependent fashion and is homologous to yeast TORs. Cell 78:35-43, 1994
74. Brown EJ, Albers MW, Shin TB, Ichikawa K, Keith CT, Lane WS, Schreiber SL: A mammalian protein targeted by G1-arresting rapamycin-receptor complex. Nature 369:756-758, 1994
75. Brown EJ, Beal PA, Keith CT, Chen J, Shin TB, Schreiber SL: Control of p70 S6 kinase by kinase activity of FRAP in vivo. Nature 377:441-446, 1995
76. Hartley KO, Cell D, Smith GCM, Zhang H, Divecha N, Connelly MA, Admon A, Lees-Miller SP, Anderson CW, Jackson SP: DNA-dependent protein kinase catalytic subunit: A relative of phosphatidyl-inositol 3-kinase and the ataxia telangiectasia gene product. Cell 82:849-856, 1995
77. Anderson CW: DNA damage and the DNA-activated protein kinase. Trends Biochem Sci 18:433-437, 1993
78. Gottlieb TM, Jackson SP: Protein kinases and DNA damage. Trends Biochem 19:500-503, 1994
79. Kuhn A. Gottlieb TM, Jackson SP, Grummt I: DNA-dependent protein kinase: A potent inhibitor of transcription by RNA polymerase I. Genes Dev 9:193-203, 1995
80. Labhart P: DNA-dependent protein kinase specifically represses promoter-directed transcription initiation by RNA polymerase I. Proc Natl Acad Sci USA 92:2934-2938, 1995
81. Jackson SP, Jeggo PA: DNA double-strand break repair and V(D)J recombination: Involvement of DNA-PK. Trends Biochem Sci 20:412-415, 1995
82. Roth DB, Lindahl T, Gellert M: How to make ends meet. Curr Biol 5:496-499, 1995
83. Lieber MR, Hesse JT, Lewis S, Bosma GC, Rosenberg N, Mizuuchi K, Bosma MJ, Gellert M: The defect in murine severe combined immune deficiency: Joining of signal sequences but not coding segments in V(D)J recombination. Cell 55:7-16, 1988
84. Hendrickson EA, Qin X-Q, Bump EA, Schatz DG, Qettinger M, Weaver DT: A link between double-strand break-related repair and V(D)J recombination: The scid mutation. Proc Natl Acad Sci USA 88:4061-4065, 1991
85. Biedermann KA, Sun J, Giaccia AJ, Tosto LM, Brown JM: Scid mutation in mice confers hypersensitivity to ionizing radiation and a deficiency in DNA double-strand break repair. Proc Natl Acad Sci USA 88:1394-1397, 1991
86. Lucke-Huhle C: Similarities between human ataxia fibroblasts and murine SCTD cells: High sensitivity to gamma rays and high frequency of methotrexate-induced DHFR gene amplification, but normal radiosensitivity to densely ionizing α particles. Radiat Environ Biophys 33:210-210, 1994
87. Carpenter CL, Auger KR, Duckworth BC, Hou WM, Schaffhaysen B, Cantley LC: A tightly associated serine/threonine protein kinase regulates phosphoinositide 3-kinase activity. Mol Cell Biol 13: 1657-1665, 1993
88. Dhand R, Hiles I, Panayotou G, Roche S, Fry MJ, Gout I, Totty NF, Truong O, Vicendo P, Yonezawa K, Kasuga M, Courtneidge SA, Waterfiedl MD: PI 3-kinase is a dual specificity enzyme: Autoregulation by an intrinsic protein-serine kinase activity. EMBO J 13:522-533, 1994
89. Tanti JF, Gremeaux T, Van Obberghen E, Le Marchand-Brustel Y: Insulin receptor substrate 1 is phosphorylated by the serine kinase activity of phosphatidylinositol 3-kinase. Biochem J 304:17-21, 1994
90. Freund GG, Wittig JG, Mooney RA: The PI3-kinase serine kinase phosphorylates ils p85 subunit and IRS-1 in PI3-kinase/IRS-1 complexes. Biochim Biophys Res Commun 206:272-278, 1995
91. Kapeller R, Cantley LC: Phosphatidylinositol 3-kinase. BioEssays 16:565-576, 1994
92. Hunter T: When is a lipid kinase not a lipid kinase? When it is a protein kinase. Cell 83:1-4, 1995
93. Enoch T, Norbury C: Cellular responses to DNA damage: cell cycle checkpoints, apoptosis and the roles of p53 and ATM. Trends Biochem Sci 20:426-430, 1995
94. Hsieh C-L, Arlett CF, Lieber MR: V(D)J recombination in ataxia telangiectasia, Bloom's syndrome and a DNA ligase I-associated immunodeficiency disorder. J Biol Chem 268:20105-20109, 1993
95. Kirsch IR: V(D)J recombination and ataxia-telangiectasia: A review. Int J Radiat Biol 66:S97-S108, 1994