NBS1 deficiency promotes genome instability by affecting DNA damage signaling pathway and impairing telomere integrity

Cell Biochemistry and Function

Volumn 30, Issue 3, 2012, Pages 233-242

  Hou, Yan Yan ^a   Toh, Meng Tiak ^a   Wang, Xueying ^a  

^a NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

Author keywords

ATM; DNA damage; Genome instability; NBS1; Telomere; TRF2

Indexed keywords

ATM PROTEIN; BROXURIDINE; DOXORUBICIN; NIBRIN; TELOMERIC REPEAT BINDING FACTOR 2;

ANEUPLOIDY; APOPTOSIS; ARTICLE; CARCINOGENESIS; CELL PROLIFERATION; CONTROLLED STUDY; DNA DAMAGE; GENOMIC INSTABILITY; HUMAN; HUMAN CELL; IN VITRO STUDY; NIJMEGEN BREAKAGE SYNDROME; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PHOSPHORYLATION; TELOMERE SHORTENING; UPREGULATION;

CELL CYCLE PROTEINS; DNA DAMAGE; DNA-BINDING PROTEINS; GENOMIC INSTABILITY; HUMANS; NIJMEGEN BREAKAGE SYNDROME; NUCLEAR PROTEINS; PROTEIN-SERINE-THREONINE KINASES; TELOMERE; TELOMERE SHORTENING; TELOMERIC REPEAT BINDING PROTEIN 2; TUMOR SUPPRESSOR PROTEINS;

ATAXIA TELANGIECTASIA;

EID: 84859440599     PISSN: 02636484     EISSN: 10990844     Source Type: Journal    
DOI: 10.1002/cbf.1840     Document Type: Article

References (36)

1. Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group. Arch Dis Child 2000; 82(5): 400-406.
2. Kobayashi J, Antoccia A, Tauchi H, et al. NBS1 and its functional role in the DNA damage response. DNA Repair (Amst) 2004; 3(8-9): 855-861.
3. Savitsky K, Bar-Shira A, Gilad S, et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 1995; 268(5218): 1749-1753.
4. Kim ST, Lim DS, Canman CE, et al. Substrate specificities and identification of putative substrates of ATM kinase family members. J Biol Chem 1999; 274(53): 37538-37543.
5. Gatei M, Young D, Cerosaletti KM, et al. ATM-dependent phosphorylation of nibrin in response to radiation exposure. Nat Genet 2000; 25(1): 115-119.
6. Kurz EU, Lees-Miller SP. DNA damage-induced activation of ATM and ATM-dependent signaling pathways. DNA Repair (Amst) 2004; 3(8-9): 889-900.
7. Lee JH, Paull TT. Direct activation of the ATM protein kinase by the Mre11/Rad50/Nbs1 complex. Science 2004; 304(5667): 93-96.
8. Horejsi Z, Falck J, Bakkenist CJ, et al. Distinct functional domains of Nbs1 modulate the timing and magnitude of ATM activation after low doses of ionizing radiation. Oncogene 2004; 23(17): 3122-3127.
9. Difilippantonio S, Celeste A, Fernandez-Capetillo O, et al. Role of Nbs1 in the activation of the Atm kinase revealed in humanized mouse models. Nat Cell Biol 2005; 7(7): 675-U56.
10. Varon R, Vissinga C, Platzer M, et al. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell 1998; 93(3): 467-476.
11. Shiloh Y. ATM and ATR: networking cellular responses to DNA damage. Curr Opin Genet Dev 2001; 11(1): 71-77.
12. Tauchi H, Matsuura S, Kobayashi J, et al. Nijmegen breakage syndrome gene, NBS1, and molecular links to factors for genome stability. Oncogene 2002; 21(58): 8967-8980.
13. Buscemi G, Savio C, Zannini L, et al. Chk2 activation dependence on Nbs1 after DNA damage. Mol Cell Biol 2001; 21(15): 5214-5222.
14. Antoccia A, di Masi A, Maraschio P, et al. G2-phase radiation response in lymphoblastoid cell lines from Nijmegen breakage syndrome. Cell Prolif 2002; 35(2): 93-104.
15. Lamarche BJ, Orazio NI, Weitzman MD. The MRN complex in double-strand break repair and telomere maintenance. FEBS Lett 2010; 584(17): 3682-3695.
16. Wu Y, Xiao S, Zhu XD. MRE11-RAD50-NBS1 and ATM function as co-mediators of TRF1 in telomere length control. Nat Struct Mol Biol 2007; 14(9): 832-840.
17. Zhu XD, Kuster B, Mann M, et al. Cell-cycle-regulated association of RAD50/MRE11/NBS1 with TRF2 and human telomeres. Nat Genet 2000; 25(3): 347-352.
18. de Lange T. Shelterin: the protein complex that shapes and safeguards human telomeres. Genes Dev 2005; 19(18): 2100-2110.
19. Munoz P, Blanco R, Blasco MA. Role of the TRF2 telomeric protein in cancer and ageing. Cell Cycle 2006; 5(7): 718-721.
20. Jeppesen P. Immunofluorescence in cytogenetic analysis: method and applications. Genet Mol Biol 2000; 23(4): 1107-1114.
21. Petrini JHJ, Attwooll CL, Akpinar M. The Mre11 Complex and the Response to Dysfunctional Telomeres. Mol Cell Biol 2009; 29(20): 5540-5551.
22. Ranganathan V, Heine WF, Ciccone DN, et al. Rescue of a telomere length defect of Nijmegen breakage syndrome cells requires NBS and telomerase catalytic subunit. Curr Biol 2001; 11(12): 962-966.
23. Difilippantonio S, Nussenzweig A. The NBS1-ATM connection revisited. Cell Cycle 2007; 6(19): 2366-2370.
24. Maser RS, Zinkel R, Petrini JH. An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele. Nat Genet 2001; 27(4): 417-421.
25. You Z, Chahwan C, Bailis J, et al. ATM activation and its recruitment to damaged DNA require binding to the C terminus of Nbs1. Mol Cell Biol 2005; 25(13): 5363-5379.
26. Oliver AW, Knapp S, Pearl LH. Activation segment exchange: a common mechanism of kinase autophosphorylation? Trends Biochem Sci 2007; 32(8): 351-356.
27. Kastan MB, Bartek J. Cell-cycle checkpoints and cancer. Nature 2004; 432(7015): 316-323.
28. Blasco MA. Telomeres and human disease: Ageing, cancer and beyond. Nat Rev Genet 2005; 6(8): 611-622.
29. Metcalfe JA, Parkhill J, Campbell L, et al. Accelerated telomere shortening in ataxia telangiectasia. Nat Genet 1996; 13(3): 350-353.
30. Wu Y, Xiao S, Zhu XD. MRE11-RAD50-NBS1 and ATM function as co-mediators of TRF1 in telomere length control. Nat Struct Mol Biol 2007; 14(9): 832-840.
31. Karlseder J, Smogorzewska A, de Lange T. Senescence induced by altered telomere state, not telomere loss. Science 2002; 295(5564): 2446-2449.
32. Richter T, Saretzki G, Nelson G, et al. TRF2 overexpression diminishes repair of telomeric single-strand breaks and accelerates telomere shortening in human fibroblasts. Mech Ageing Dev 2007; 128(4): 340-345.
33. Smogorzewska A, Van Steensel B, Bianchi A, et al. Control of human telomere length by TRF1 and TRF2. Mol Cell Biol 2000; 20(5): 1659-1668.
34. Nishimura Y, Hanaoka S, Nagadoi A. Comparison between TRF2 and TRF1 of their telomeric DNA-bound structures and DNA-binding activities. Protein Sci 2005; 14(1): 119-130.
35. Martens UM, Chavez EA, Poon SSS, et al. Accumulation of short telomeres in human fibroblasts prior to replicative senescence. Exp Cell Res 2000; 256(1): 291-299.
36. Hezel AF, Bardeesy N, Maser RS. Telomere induced senescence: End game signaling. Curr Mol Med 2005; 5(2): 145-152.