BRCA2 function and the central nervous system

Cell Cycle

Volumn 6, Issue 20, 2007, Pages 2453-2457

  Frappart, Pierre Olivier ^a   McKinnon, Peter J ^a  

^a ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

Author keywords

BRCA2; DNA repair; Fanconi anemia; Homologous recombination; Nervous system; Neurogenesis

Indexed keywords

BRCA2 PROTEIN; DOUBLE STRANDED DNA; TUMOR SUPPRESSOR PROTEIN;

CARCINOGENESIS; CELL POPULATION; CENTRAL NERVOUS SYSTEM; DNA REPAIR; DNA RESPONSIVE ELEMENT; DNA STRAND BREAKAGE; FANCONI ANEMIA; GENOTYPE; HUMAN; IN VIVO STUDY; MEDULLOBLASTOMA; METAPHASE CHROMOSOME; NERVE DEGENERATION; NERVOUS SYSTEM DEVELOPMENT; NONHUMAN; PROTEIN FUNCTION; REVIEW; SIGNAL TRANSDUCTION;

EID: 35848933900     PISSN: 15384101     EISSN: 15514005     Source Type: Journal    
DOI: 10.4161/cc.6.20.4785     Document Type: Review

References (68)

1. Helleday T, Lo J, van Gent DC, Engelward BP. DNA double-strand break repair: From mechanistic understanding to cancer treatment. DNA Repair (Amst) 2007.
2. Lee Y, McKinnon PJ. Responding to DNA double strand breaks in the nervous system. Neuroscience 2007; 145:1365-74.
3. Ward I, Chen J. Early events in the DNA damage response. Curr Top Dev Biol 2004; 63:1-35.
4. Frappart PO, McKinnon PJ. Ataxia-telangiectasia and related diseases. Neuromolecular Med 2006; 8:495-512.
5. O'Driscoll M, Jeggo PA. The role of double-strand break repair - Insights from human genetics. Nat Rev Genet 2006; 7:45-54.
6. Howlett NG, Taniguchi T, Olson S, Cox B, Waisfisz Q, De Die-Smulders C, Persky N, Grompe M, Joenje H, Pals G, Ikeda H, Fox EA, D'Andrea AD. Biallelic inactivation of BRCA2 in Fanconi anemia. Science 2002; 297:606-9.
7. Kennedy RD, D'Andrea AD. The Fanconi Anemia/BRCA pathway: New faces in the crowd. Genes Dev 2005; 19:2925-40.
8. D'Andrea AD, Grompe M. The Fanconi anaemia/BRCA pathway. Nat Rev Cancer 2003; 3:23-34.
9. Frappart PO, Lee Y, Lamont J, McKinnon PJ. BRCA2 is required for neurogenesis and suppression of medulloblastoma. EMBO J 2007; 26:2732-42.
10. D'Andrea AD. The Fanconi road to cancer. Genes Dev 2003; 17:1933-6.
11. Jasin M. Homologous repair of DNA damage and tumorigenesis: The BRCA connection. Oncogene 2002; 21:8981-93.
12. Kastan MB, Bartek J. Cell-cycle checkpoints and cancer. Nature 2004; 432:316-23.
13. Mills KD, Ferguson DO, Alt FW. The role of DNA breaks in genomic instability and tumorigenesis. Immunol Rev 2003; 194:77-95.
14. Lieber MR, Ma Y, Pannicke U, Schwarz K. Mechanism and regulation of human nonhomologous DNA end-joining. Nat Rev Mol Cell Biol 2003; 4:712-20.
15. West SC. Molecular views of recombination proteins and their control. Nat Rev Mol Cell Biol 2003; 4:435-45.
16. Caldecott KW. XRCC1 and DNA strand break repair. DNA Repair (Amst) 2003; 2:955-69.
17. Cleaver JE. Cancer in xeroderma pigmentosum and related disorders of DNA repair. Nat Rev Cancer 2005; 5:564-73.
18. Andreassen PR, Ho GP, D'Andrea AD. DNA damage responses and their many interactions with the replication fork. Carcinogenesis 2006; 27:883-92.
19. Heyer WD, Li X, Rolfsmeier M, Zhang XP. Rad54: The Swiss Army knife of homologous recombination? Nucleic Acids Res 2006; 34:4115-25.
20. Thacker J. The RAD51 gene family, genetic instability and cancer. Cancer Lett 2005; 219:125-35.
21. Burma S, Chen BP, Chen DJ. Role of non-homologous end joining (NHEJ) in maintaining genomic integrity. DNA Repair (Amst) 2006; 5:1042-8.
22. Lees-Miller SP, Meek K. Repair of DNA double strand breaks by non-homologous end joining. Biochimie 2003; 85:1161-73.
23. Pellegrini L, Venkitaraman A. Emerging functions of BRCA2 in DNA recombination. Trends Biochem Sci 2004; 29:310-6.
24. Powell SN, Willers H, Xia F. BRCA2 keeps Rad51 in line: High-fidelity homologous recombination prevents breast and ovarian cancer? Mol Cell 2002; 10:1262-3.
25. Shivji MK, Venkitaraman AR. DNA recombination, chromosomal stability and carcinogenesis: Insights into the role of BRCA2. DNA Repair (Amst) 2004; 3:835-43.
26. Yang H, Li Q, Fan J, Holloman WK, Pavletich NP. The BRCA2 homologue Brh2 nucleates RAD51 filament formation at a dsDNA-ssDNA junction. Nature 2005; 433:653-7.
27. Daniels MJ, Wang Y, Lee M, Venkitaraman AR. Abnormal cytokinesis in cells deficient in the breast cancer susceptibility protein BRCA2. Science 2004; 306:876-9.
28. Sharan SK, Morimatsu M, Albrecht U, Lim DS, Regel E, Dinh C, Sands A, Eichele G, Hasty P, Bradley A. Embryonic lethality and radiation hypersensitivity mediated by Rad51 in mice lacking Brca2. Nature 1997; 386:804-10.
29. Tutt A, Ashworth A. The relationship between the roles of BRCA genes in DNA repair and cancer predisposition. Trends Mol Med 2002; 8:571-6.
30. Yang H, Jeffrey PD, Miller J, Kinnucan E, Sun Y, Thoma NH, Zheng N, Chen PL, Lee WH, Pavletich NP. BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure. Science 2002; 297:1837-48.
31. Hughes-Davies L, Huntsman D, Ruas M, Fuks F, Bye J, Chin SF, Milner J, Brown LA, Hsu F, Gilks B, Nielsen T, Schulzer M, Chia S, Ragaz J, Cahn A, Linger L, Ozdag H, Cattaneo E, Jordanova ES, Schuuring E, Yu DS, Venkitaraman A, Ponder B, Doherty A, Aparicio S, Bentley D, Theillet C, Ponting CP, Caldas C, Kouzarides T. EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer. Cell 2003; 115:523-35.
32. Offit K, Levran O, Mullaney B, Mah K, Nafa K, Batish SD, Diotti R, Schneider H, Deffenbaugh A, Scholl T, Proud VK, Robson M, Norton L, Ellis N, Hanenberg H, Auerbach AD. Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia. J Natl Cancer Inst 2003; 95:1548-51.
33. Reid S, Schindler D, Hanenberg H, Barker K, Hanks S, Kalb R, Neveling K, Kelly P, Seal S, Freund M, Wurm M, Batish SD, Lach FP, Yetgin S, Neitzel H, Ariffin H, Tischkowitz M, Mathew CG, Auerbach AD, Rahman N. Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat Genet 2007; 39:162-4.
34. Suzuki A, de la Pompa JL, Hakem R, Elia A, Yoshida R, Mo R, Nishina H, Chuang T, Wakeham A, Itie A, Koo W, Billia P, Ho A, Fukumoto M, Hui CC, Mak TW. Brca2 is required for embryonic cellular proliferation in the mouse. Genes Dev 1997; 11:1242-52.
35. Ludwig T, Chapman DL, Papaioannou VE, Efstratiadis A. Targeted mutations of breast cancer susceptibility gene homologs in mice: Lethal phenotypes of Brca1, Brca2, Brca1/Brca2, Brca1/p53, and Brca2/p53 nullizygous embryos. Genes Dev 1997; 11:1226-41.
36. Frappart PO, Tong WM, Demuth I, Radovanovic I, Herceg Z, Aguzzi A, Digweed M, Wang ZQ. An essential function for NBS1 in the prevention of ataxia and cerebellar defects. Nat Med 2005; 11:538-44.
37. Gao Y, Sun Y, Frank KM, Dikkes P, Fujiwara Y, Seidl KJ, Sekiguchi JM, Rathbun GA, Swat W, Wang J, Bronson RT, Malynn BA, Bryans M, Zhu C, Chaudhuri J, Davidson L, Ferrini R, Stamato T, Orkin SH, Greenberg ME, Alt FW. A critical role for DNA end-joining proteins in both lymphogenesis and neurogenesis. Cell 1998; 95:891-902.
38. Lee Y, McKinnon PJ. DNA ligase IV suppresses medulloblastoma formation. Cancer Res 2002; 62:6395-9.
39. McMurray CT. To die or not to die: DNA repair in neurons. Mutat Res 2005; 577:260-74.
40. Sekiguchi J, Ferguson DO, Chen HT, Yang EM, Earle J, Frank K, Whitlow S, Gu Y, Xu Y, Nussenzweig A, Alt FW. Genetic interactions between ATM and the nonhomologous end-joining factors in genomic stability and development. Proc Natl Acad Sci USA 2001; 98:3243-8.
41. Friedberg EC, Meira LB. Database of mouse strains carrying targeted mutations in genes affecting biological responses to DNA damage Version 7. DNA Repair (Amst) 2006; 5:189-209.
42. Herzog KH, Chong MJ, Kapsetaki M, Morgan JI, McKinnon PJ. Requirement for Atm in ionizing radiation-induced cell death in the developing central nervous system. Science 1998; 280:1089-91.
43. Yuan J, Yankner BA. Apoptosis in the nervous system. Nature 2000; 407:802-9.
44. Orii KE, Lee Y, Kondo N, McKinnon PJ. Selective utilization of nonhomologous end-joining and homologous recombination DNA repair pathways during nervous system development. Proc Natl Acad Sci USA 2006; 103:10017-22.
45. Goldowitz D, Hamre K. The cells and molecules that make a cerebellum. Trends Neurosci 1998; 21:375-82.
46. Wang VY, Zoghbi HY. Genetic regulation of cerebellar development. Nat Rev Neurosci 2001; 2:484-91.
47. Shiloh Y. ATM and related protein kinases: Safeguarding genome integrity. Nat Rev Cancer 2003; 3:155-68.
48. Shiloh Y. The ATM?mediated DNA?damage response: Taking shape. Trends Biochem Sci 2006; 31:402-10.
49. McKinnon PJ. ATM and ataxia telangiectasia. EMBO Rep 2004; 5:772-6.
50. Lee Y, Barnes DE, Lindahl T, McKinnon PJ. Defective neurogenesis resulting from DNA ligase IV deficiency requires Atm. Genes Dev 2000; 14:2576-80.
51. Lee Y, Chong MJ, McKinnon PJ. Ataxia telangiectasia mutated-dependent apoptosis after genotoxic stress in the developing nervous system is determined by cellular differentiation status. J Neurosci 2001; 21:6687-93.
52. Adam J, Deans B, Thacker J. A role for Xrcc2 in the early stages of mouse development. DNA Repair (Amst) 2007; 6:224-34.
53. Williams RS, Tainer JA. A nanomachine for making ends meet: MRN is a flexing scaffold for the repair of DNA double-strand breaks. Mol Cell 2005; 19:724-6.
54. van den Bosch M, Bree RT, Lowndes NF. The MRN complex: Coordinating and mediating the response to broken chromosomes. EMBO Rep 2003; 4:844-9.
55. Petrini JH, Stracker TH. The cellular response to DNA double-strand breaks: Defining the sensors and mediators. Trends Cell Biol 2003; 13:458-62.
56. Kobayashi J, Antoccia A, Tauchi H, Matsuura S, Komatsu K. NBS1 and its functional role in the DNA damage response. DNA Repair (Amst) 2004; 3:855-61.
57. Lim DS, Kim ST, Xu B, Maser RS, Lin J, Petrini JH, Kastan MB. ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway. Nature 2000; 404:613-7.
58. Kops GJ, Weaver BA, Cleveland DW. On the road to cancer: Aneuploidy and the mitotic checkpoint. Nat Rev Cancer 2005; 5:773-85.
59. Louis DN, Ohgaki H, Wiestler OD, Cavenee WK, Burger PC, Jouvet A, Scheithauer BW, Kleihues P. The 2007 WHO classification of tumours of the central nervous system. Acta Neuropathol (Berl) 2007; 114:97-109.
60. Lee Y, Miller HL, Jensen P, Hernan R, Connelly M, Wetmore C, Zindy F, Roussel MF, Curran T, Gilbertson RJ, McKinnon PJ. A molecular fingerprint for medulloblastoma. Cancer Res 2003; 63:5428-37.
61. Yan CT, Kaushal D, Murphy M, Zhang Y, Datta A, Chen C, Monroe B, Mostoslavsky G, Coakley K, Gao Y, Mills KD, Fazeli AP, Tepsuporn S, Hall G, Mulligan R, Fox E, Bronson R, De Girolami U, Lee C, Alt FW. XRCC4 suppresses medulloblastomas with recurrent translocations in p53-deficient mice. Proc Natl Acad Sci USA 2006; 103:7378-83.
62. Xia B, Dorsman JC, Ameziane N, de Vries Y, Rooimans MA, Sheng Q, Pals G, Errami A, Gluckman E, Llera J, Wang W, Livingston DM, Joenje H, de Winter JP. Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. Nat Genet 2007; 39:159-61.
63. Xia B, Sheng Q, Nakanishi K, Ohashi A, Wu J, Christ N, Liu X, Jasin M, Couch FJ, Livingston DM. Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. Mol Cell 2006; 22:719-29.
64. Farmer H, McCabe N, Lord CJ, Tutt AN, Johnson DA, Richardson TB, Santarosa M, Dillon KJ, Hickson I, Knights C, Martin NM, Jackson SP, Smith GC, Ashworth A. Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy. Nature 2005; 434:917-21.
65. Bryant HE, Schultz N, Thomas HD, Parker KM, Flower D, Lopez E, Kyle S, Meuth M, Curtin NJ, Helleday T. Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase. Nature 2005; 434:913-7.
66. Helleday T, Bryant HE, Schultz N. Poly(ADP-ribose) polymerase (PARP-1) in homologous recombination and as a target for cancer therapy. Cell Cycle 2005; 4:1176-8.
67. Heyer BS, MacAuley A, Behrendtsen O, Werb Z. Hypersensitivity to DNA damage leads to increased apoptosis during early mouse development. Genes Dev 2000; 14:2072-84.
68. Bukalo O, Fentrop N, Lee AY, Salmen B, Law JW, Wotjak CT, Schweizer M, Dityatev A, Schachner M. Conditional ablation of the neural cell adhesion molecule reduces precision of spatial learning, long-term potentiation, and depression in the CA1 subfield of mouse hippocampus. J Neurosci 2004; 24:1565-77.