DNA damage-induced signalling in ataxia-telangiectasia and related syndromes

Radiotherapy and Oncology

Volumn 83, Issue 3, 2007, Pages 231-237

  Lavin, Martin F ^a,b   Kozlov, Sergei ^a  

^a QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^b UNIVERSITY OF QUEENSLAND   (Australia)

Author keywords

Ataxia telangiectasia; ATM activation; Autophosphorylation; Cell cycle checkpoints; Ionizing radiation

Indexed keywords

ATM PROTEIN; MRE11 PROTEIN; NIBRIN; RAD50 PROTEIN;

ATAXIA TELANGIECTASIA; CANCER RISK; CELL CYCLE REGULATION; COMPLEX FORMATION; DNA DAMAGE; DNA REPAIR; GENOMIC INSTABILITY; HUMAN; NERVE DEGENERATION; NONHUMAN; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN PHOSPHORYLATION; REVIEW; RISK REDUCTION; SIGNAL TRANSDUCTION;

ATAXIA TELANGIECTASIA; CELL CYCLE PROTEINS; DNA DAMAGE; DNA-BINDING PROTEINS; HUMANS; NEUROCUTANEOUS SYNDROMES; PROTEIN-SERINE-THREONINE KINASES; SIGNAL TRANSDUCTION; TUMOR SUPPRESSOR PROTEINS;

EID: 34250195047     PISSN: 01678140     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.radonc.2007.04.032     Document Type: Review

References (64)

1. Ahn J., Urist M., and Prives C. Questioning the role of checkpoint kinase 2 in the p53 DNA damage response. J Biol Chem 278 (2003) 20480-20489
2. Ali A., Zhang J., Bao S., et al. Requirement of protein phosphatase 5 in DNA-damage-induced ATM activation. Genes Dev 18 (2004) 249-254
3. Bakkenist C.J., and Kastan M.B. DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation. Nature 421 (2003) 499-506
4. Bartek J., Lukas C., and Lukas J. Checking on DNA damage in S phase. Nat Rev Mol Cell Biol 5 (2004) 792-804
5. Beamish H., and Lavin M.F. Radiosensitivity in ataxia-telangiectasia: anomalies in radiation-induced cell cycle delay. Int J Radiat Biol 65 (1994) 175-184
6. Boder E., and Sedgwick R.P. Ataxia-telangiectasia. A familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. A preliminary report on 7 children, an autopsy, and a case history. Univ Calif Med Bull (1957) 15-28
7. Boder E., and Sedgwick R.P. Ataxia-telangiectasia. Psychiatr Neurol Med Psychol Beih 13-14 (1970) 8-16
8. Carney J.P., Maser R.S., Olivares H., et al. The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response. Cell 93 (1998) 477-486
9. Carson C.T., Schwartz R.A., Stracker T.H., Lilley C.E., Lee D.V., and Weitzman M.D. The Mre11 complex is required for ATM activation and the G2/M checkpoint. EMBO J 22 (2003) 6610-6620
10. Cerosaletti K., and Concannon P. Independent roles for nibrin and Mre11-Rad50 in the activation and function of Atm. J Biol Chem 279 (2004) 38813-38819
11. Chehab N.H., Malikzay A., Appel M., et al. Chk2/hCds1 functions as a DNA damage checkpoint in G(1) by stabilizing p53. Genes Dev 14 (2000) 278-288
12. Chen P.C., Lavin M.F., Kidson C., and Moss D. Identification of ataxia telangiectasia heterozygotes, a cancer prone population. Nature 274 (1978) 484-486
13. Constanzo V., Paull T., Gottesman M., et al. Mre11 assembles linear DNA fragments into DNA damage signalling complexes. PLoS Biol 2 (2004) 600-609
14. Cortez D., Wang Y., Qin J., and Elledge S.J. Requirement of ATM-dependent phosphorylation of brca1 in the DNA damage response to double-strand breaks. Science 286 (1999) 1100-1102
15. Dupre A., Boyer-Chatenet L., and Gautier J. Two-step activation of ATM by DNA and the Mre11-Rad50-Nbs1 complex. Nat Struct Mol Biol 13 (2006) 451-457
16. Earnshaw W.C., and Laemmli U.K. Architecture of metaphase chromosomes and chromosome scaffolds. J Cell Biol 96 (1983) 84-93
17. Falck J., Coates J., and Jackson S.P. Conserved modes of recruitment of ATM, ATR and DNA-PKcs to sites of DNA damage. Nature 434 (2005) 605-611
18. Gatti R.A., Berkel I., Boder E., Braedt G., Charmley P., Concannon P., et al. Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature 336 (1988) 577-580
19. Goodarzi A.A., Jonnalagadda J.C., Douglas P., Young D., Ye R., Moorhead G.B., et al. Autophosphorylation of ataxia-telangiectasia mutated is regulated by protein phosphatase 2A. EMBO J 23 (2004) 4451-4461
20. Gotoff S.P., Amirmokri E., and Liebner E.J. Ataxia telangiectasia. Neoplasia, untoward response to x-irradiation, and tuberous sclerosis. Am J Dis Child 114 (1967) 617-625
21. Gupta A., Sharma G.G., Young C.S., et al. Involvement of human MOF in ATM function. Mol Cell Biol 25 (2005) 5292-5305
22. Hickson I., Zhao Y., Richardson C.J., et al. Identification and characterization of a novel and specific inhibitor of the ataxia-telangiectasia mutated kinase ATM. Cancer Res 64 (2004) 9152-9159
23. Horejsi Z., Falck J., Bakkenist C.J., et al. Distinct functional domains of Nbs1 modulate the timing and magnitude of ATM activation after low doses of ionizing radiation. Oncogene 23 (2004) 3122-3127
24. Houldworth J., and Lavin M.F. Effect of ionizing radiation on DNA synthesis in ataxia telangiectasia cells. Nucleic Acids Res 8 (1980) 3709-3720
25. Ikura T., Ogryzko V.V., Grigoriev M., et al. Involvement of the Tip60 histone acetylase complex in DNA repair and apoptosis. Cell 102 (2000) 463-473
26. Kastan M.B., Onyekwere O., Sidransky D., et al. Participation of p53 protein in the cellular response to DNA damage. Cancer Res 51 (1991) 6304-6311
27. Kastan M.B., Zhan Q., el-Deiry W.S., et al. A mammalian cell cycle checkpoint pathway utilising p53 and GADD45 is defective in ataxia-telangiectasia. Cell 71 (1992) 587-597
28. Kawai H., Wiederschain D., Kitao H., et al. DNA damage-induced MDMX degradation is mediated by MDM2. J Biol Chem 278 (2003) 45946-45953
29. Kozlov S.V., Graham M.E., Peng C., Chen P., Robinson P.J., and Lavin M.F. Involvement of novel autophosphorylation sites in ATM activation. EMBO J 25 (2006) 3504-3514
30. Kozlov S., Gueven N., Keating K., et al. ATP activates ataxia-telangiectasia mutated (ATM) in vitro. Importance of autophosphorylation. J Biol Chem 278 (2003) 9309-9317
31. Krajewski W.A. Alterations in the internucleosomal DNA helical twist in chromatin of human erythroleukemia cells in vivo influences the chromatin higher-order folding. FEBS Lett 361 (1995) 149-152
32. Kurz E.U., and Lees-Miller S.P. DNA damage-induced activation of ATM and ATM-dependent signaling pathways. DNA Repair 3 (2004) 889-900
33. Lavin M.F., and Gueven N. The complexity of p53 stabilization and activation. Cell Death Differ 13 (2006) 941-950
34. Lee J.H., and Paull T.T. ATM activation by DNA double-strand breaks through the Mre11-Rad50-Nbs1 complex. Science 308 (2005) 551-554 Erratum in: Science 2005;308:1870
35. Lee J.H., and Paull T.T. Direct activation of the ATM protein kinase by the Mre11/Rad50/Nbs1 complex. Science 304 (2004) 93-96
36. Lu X., Nguyen T.A., and Doenhower L.A. Reversal of the ATM/ATR-mediated DNA damage response by the oncogenic phosphatase PPM1D. Cell Cycle 4 (2005) 1060-1064
37. Maser R.S., Monsen K.J., Nelms B.E., et al. hMre11 and hRad50 nuclear foci are induced during the normal cellular response to DNA double-strand breaks. Mol Cell Biol 17 (1997) 6087-6096
38. Maya R., Balass M., Kim S.T., et al. ATM-dependent phosphorylation of Mdm2 on serine 395: role in p53 activation by DNA damage. Genes Dev 15 (2001) 1067-1077
39. McKusick V., and Cross H.E. Ataxia-telangiectasia and Swiss-type agammaglobulinemia. Two genetic disorders of the immune mechanism in related Amish sibships. JAMA 195 (1996) 739-745
40. Mirzoeva O.K., and Petrini J.H. DNA damage-dependent nuclear dynamics of the Mre11 complex. Mol Cell Biol 21 (2001) 281-288
41. Morgan J.L., Holcomb T.M., and Morrissey R.W. Radiation reaction in ataxia telangiectasia. Am J Dis Child 116 (1968) 557-558
42. Okamoto K., Kashima K., Pereg Y., et al. DNA damage-induced phosphorylation of MdmX at serine 367 activates p53 by targeting MdmX for Mdm2-dependent degradation. Mol Cell Biol 25 (2005) 9608-9620
43. Oren M. Regulation of the p53 tumor suppressor protein. J Biol Chem 274 (1999) 36031-36034
44. Painter R.B., and Young B.R. Radiosensitivity in ataxia-telangiectasia: a new explanation. Proc Natl Acad Sci USA 77 (1980) 7315-7317
45. Pellegrini M., Celeste A., Difilippantonio S., et al. Autophosphorylation at serine 1987 is dispensable for murine Atm activation in vivo. Nature 443 (2006) 222-225
46. Peng C.Y., Graves P.R., Thoma R.S., Wu Z., Shaw A.S., and Piwnica-Worms H. Mitotic and G2 checkpoint control: regulation of 14-3-3 protein binding by phosphorylation of Cdc25C on serine 216. Science 277 (1997) 1501-1505
47. Pereg Y., Lam S., Teunisse A., et al. Differential roles of ATM- and Chk2-mediated phosphorylations of Hdmx in response to DNA damage. Mol Cell Biol 26 (2006) 6819-6831
48. Pereg Y., Shkedy D., de Graaf P., et al. Phosphorylation of Hdmx mediates its Hdm2- and ATM-dependent degradation in response to DNA damage. Proc Natl Acad Sci USA 102 (2005) 5056-5061
49. Savitsky K., Bar-Shira A., Gilad S., Rotman G., Ziv Y., Vanagaite L., et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 268 (1995) 1749-1753
50. Shiloh Y. Ataxia-telangiectasia and the Nijmegen breakage syndrome: related disorders but genes apart. Annu Rev Genet 31 (1997) 635-662
51. Shreeram S., Demidov O.N., Hee W.K., et al. Wip1 phosphatase modulates ATM-dependent signaling pathways. Mol Cell 23 (2006) 757-764
52. Shroff R., Arbel-Eden A., Pilch D., et al. Distribution and dynamics of chromatin modification induced by a defined DNA double-strand break. Curr Biol 14 (2004) 703-711
53. Smith G.C., Cary R.B., Lakin N.D., et al. Purification and DNA binding properties of the ataxia-telangiectasia gene product ATM. Proc Natl Acad Sci USA 96 (1999) 11134-11139
54. Stad R., Little N.A., Xirodimas D.P., et al. Mdmx stabilizes p53 and Mdm2 via two distinct mechanisms. EMBO Rep 2 (2001) 1029-1034
55. Stewart G.S., Maser R.S., Stankovic T., et al. The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. Cell 99 (1999) 577-587
56. Sun Y., Jiang X., Chen S., et al. A role for the Tip60 histone acetyltransferase in the acetylation and activation of ATM. Proc Natl Acad Sci USA 102 (2005) 13182-13187
57. Suzuki K., Kodama S., and Watanabe M. Recruitment of ATM protein to double strand DNA irradiated with ionizing radiation. J Biol Chem 274 (1999) 25571-25575
58. Swift M., Morrell D., Cromartie E., Chamberlin A.R., Skolnick M.H., and Bishop D.T. The incidence and gene frequency of ataxia-telangiectasia in the United States. Am J Hum Genet 39 (1986) 573-583
59. Syllaba L., and Henner K. Contribution à l'indépendence de l'athétose double idiopathique et congénitale. Atteinte familiale, syndrome dystrophique, signe du reséau vasculaire conjonctival, intégrité psychique. Rev Neurol 1 (1926) 541-562
60. Taylor A.M., Harnden D.G., Arlett C.F., Harcourt S.A., Lehmann A.R., Stevens S., et al. Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity. Nature 258 (1975) 427-429
61. Uziel T., Lerenthal Y., Moyal L., et al. Requirement of the MRN complex for ATM activation by DNA damage. EMBO J 22 (2003) 5612-5621
62. Woods C.G., Bundey S.E., and Taylor A.M. Unusual features in the inheritance of ataxia telangiectasia. Hum Genet 84 (1990) 555-562
63. Yang Y., and Sharan S.K. A simple two-step, 'hit and fix' method to generate subtle mutations in BACs using short denatured PCR fragments. Nucleic Acids Res 31 (2003) e80
64. Yoshida M., Horinouchi S., and Beppu T. Trichostatin A and trapoxin: novel chemical probes for the role of histone acetylation in chromatin structure and function. Bioessays 17 (1995) 423-430 Review