Advertisement

FANCD1/BRCA2 and FANCD2

  • Gary M. Kupfer
Chapter
  • 433 Downloads
Part of the Medical Intelligence Unit book series

Keywords

BRCA2 Mutation Fanconi Anemia Complementation Group Bloom Syndrome RAD51 Focus 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Strathdee CA, Duncan AMV, Buchwald M. Evidence for at least four Fanconi Anemia genes including FACC on chromosome 9. Nat Genet 1992; 1:196–198.PubMedCrossRefGoogle Scholar
  2. 2.
    Strathdee CA, Gavish H, Shannon WR et al. Cloning of cDNAs for Fanconi’s anaemia by functional complementation. Nature 1992; 356:763–767.PubMedCrossRefGoogle Scholar
  3. 3.
    Kupfer GM, Naf D, Suliman A et al. The Fanconi anaemia proteins, FAA and FAC, interact to form a nuclear complex. Nat Genet 1997; 17:487–490.PubMedCrossRefGoogle Scholar
  4. 4.
    Yamashita T, Kupfer G, Naf D et al. The Fanconi Anemia Pathway Requires FAA Phosphorylation and FAA/FAC Nuclear Accumulation. PNAS 1998; 95:13085–13090.PubMedCrossRefGoogle Scholar
  5. 5.
    Whitney M et al. Microcell mediated chromosome transfer maps the Fanconi anemia group D gene to chromosome 3p. Nature Genet 1995; 11:341–343.PubMedCrossRefGoogle Scholar
  6. 6.
    Hejna JA, Timmers CD, Reifsteck C et al. Localization of the Fanconi anemia complementation group D gene to a 200-kb region on chromosome 3p25.3. Am J Hum Genet 2000; 66:1540–1551.PubMedCrossRefGoogle Scholar
  7. 7.
    Timmers C, Taniguchi T, Hejna J et al. Positional cloning of a novel Fanconi anemia gene, FANCD2. Mol Cell 2001; 7:241–248.PubMedCrossRefGoogle Scholar
  8. 8.
    Joenje H, Patel KJ. The emerging genetic and molecular basis of Fanconi anaemia. Nat Rev Genet 2001; 2:446–457.PubMedCrossRefGoogle Scholar
  9. 9.
    Levitus M, Rooimans MA, Steltenpool J et al. Heterogeneity in Fanconi anemia: Evidence for two new genetic subtypes. Blood 2003.Google Scholar
  10. 10.
    Garcia-Higuera I, Taniguchi T, Ganesan S et al. Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway. Mol Cell 2001; 7:249–262.PubMedCrossRefGoogle Scholar
  11. 11.
    Shimamura A, de Oca RM, Svenson JL et al. A novel diagnostic screen for defects in the Fanconi anemia pathway. Blood 2002; 100:4649–4654.PubMedCrossRefGoogle Scholar
  12. 12.
    Taniguchi T, Garcia-Higuera I, Andreassen PR et al. S-phase-specific interaction of the Fanconi anemia protein, FANCD2, with BRCA1 and RAD51. Blood 2002; 100:2414–2420.PubMedCrossRefGoogle Scholar
  13. 13.
    Nakanishi K, Taniguchi T, Ranganathan V et al. Interaction of FANCD2 and NBS1 in the DNA damage response. Nat Cell Biol 2002; 4:913–920.PubMedCrossRefGoogle Scholar
  14. 14.
    Offit K, Levran O, Mullaney B et al. Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia. J Natl Cancer Inst 2003; 95:1548–1551.PubMedGoogle Scholar
  15. 15.
    Tischkowitz M, Ameziane N, Waisfisz Q et al. Bi-allelic silencing of the Fanconi anaemia gene FANCF in acute myeloid leukaemia. Br J Haematol 2003; 123:469–471.PubMedCrossRefGoogle Scholar
  16. 16.
    Marsit CJ, Liu M, Nelson HH et al. Inactivation of the Fanconi anemia/BRCA pathway in lung and oral cancers: implications for treatment and survival. Oncogene 2003.Google Scholar
  17. 17.
    Taniguchi T, Tischkowitz M, Ameziane N et al. Disruption of the Fanconi anemia-BRCA pathway in cisplatin-sensitive ovarian tumors. Nat Med 2003; 9:568–574.PubMedCrossRefGoogle Scholar
  18. 18.
    Tomlinson GE, Chen TT, Stastny VA et al. Characterization of a breast cancer cell line derived from a germ-line BRCA1 mutation carrier. Cancer Res 1998; 58:3237–3242.PubMedGoogle Scholar
  19. 19.
    Scully R, Chen J, Ochs RL et al. Dynamic changes of BRCA1 subnuclear location and phosphorylation state are initiated by DNA damage. Cell 1997; 90:425–435.PubMedCrossRefGoogle Scholar
  20. 20.
    Kupfer GM, D’Andrea AD. The effect of the Fanconi anemia polypeptide, FAC, upon p53 induction and G2 checkpoint regulation. Blood 1996; 88:1019–1025.PubMedGoogle Scholar
  21. 21.
    Taniguchi T, Garcia-Higuera I, Xu B et al. Convergence of the fanconi anemia and ataxia telangiectasia signaling pathways. Cell 2002; 109:459–472.PubMedCrossRefGoogle Scholar
  22. 22.
    Alter BP, Young NS. The bone marrow failure syndromes. In: Nathan DG, Oski FA, eds. Hematology of Infancy and Childhood. Vol. 1. Philadelphia: W.B. Saunders, 1993:216–316.Google Scholar
  23. 23.
    Auerbach A, Buchwald M, Joenje H. Fanconi anemia. In: Vogelstein B, Kinzler K, eds. Genetics of Cancer. New York: McGraw-Hill, 1997:317–332.Google Scholar
  24. 24.
    Guardiola P, Socie G, Pasquini R et al. Allogeneic stem cell transplantation for Fanconi anaemia. Severe Aplastic Anaemia Working Party of the EBMT and EUFAR. European Group for Blood and Marrow Transplantation. Bone Marrow Transplant 1998; 21Suppl 2:S24–27.PubMedGoogle Scholar
  25. 25.
    Koomen M, Cheng NC, van de Vrugt HJ et al. Reduced fertility and hypersensitivity to mitomycin C characterize Fancg/Xrcc9 null mice. Hum Mol Genet 2002; 11:273–281.PubMedCrossRefGoogle Scholar
  26. 26.
    Yang Y, Kuang Y, De Oca RM et al. Targeted disruption of the murine Fanconi anemia gene, Fancg/Xrcc9. Blood 2001; 98:3435–3440.PubMedCrossRefGoogle Scholar
  27. 27.
    Joazeiro CA, Weissman AM. RING finger proteins: Mediators of ubiquitin ligase activity. Cell 2000; 102:549–552.PubMedCrossRefGoogle Scholar
  28. 28.
    Lorick KL, Jensen JP, Fang S et al. RING fingers mediate ubiquitin-conjugating enzyme (E2)-dependent ubiquitination. Proc Natl Acad Sci USA 1999; 96:11364–11369.PubMedCrossRefGoogle Scholar
  29. 29.
    Bruun D, Folias A, Akkari Y et al. siRNA depletion of BRCA1, but not BRCA2, causes increased genome instability in Fanconi anemia cells. DNA Repair (Amst) 2003; 2:1007–1013.CrossRefGoogle Scholar
  30. 30.
    Vandenberg CJ, Gergely F, Ong CY et al. BRCA1-independent ubiquitination of FANCD2. Mol Cell 2003; 12:247–254.PubMedCrossRefGoogle Scholar
  31. 31.
    Meetei AR, de Winter JP, Medhurst AL, et al. A novel ubiquitin ligase is deficient in Fanconi anemia. Nat Genet 2003;35:165–170.PubMedCrossRefGoogle Scholar
  32. 32.
    Pace P, Johnson M, Tan WM, et al. FANCE: the link between Fanconi anaemia complex assembly and activity. Embo J 2002; 21:3414–3423.PubMedCrossRefGoogle Scholar
  33. 33.
    Gordon SM, Buchwald M. Fanconi anemia protein complex: Mapping protein interactions in the yeast 2-and 3-hybrid systems. Blood 2003; 102:136–141.PubMedCrossRefGoogle Scholar
  34. 34.
    Folias A, Matkovic M, Bruun D et al. BRCA1 interacts directly with the Fanconi anemia protein FANCA. Hum Mol Genet 2002; 11:2591–2597.PubMedCrossRefGoogle Scholar
  35. 35.
    Wang Y, Cortez D, Yazdi P et al. BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures. Genes Dev 2000; 14:927–939.PubMedGoogle Scholar
  36. 36.
    Digweed M, Rothe S, Demuth I et al. Attenuation of the formation of DNA-repair foci containing RAD51 in Fanconi anaemia. Carcinogenesis 2002; 23:1121–1126.PubMedCrossRefGoogle Scholar
  37. 37.
    Godthelp BC, Artwert F, Joenje H et al. Impaired DNA damage-induced nuclear Rad51 foci formation uniquely characterizes Fanconi anemia group Dl. Oncogene 2002; 21:5002–5005.PubMedCrossRefGoogle Scholar
  38. 38.
    Yamamoto K, Ishiai M, Matsushita N et al. Fanconi anemia FANCG protein in mitigating radiation-and enzyme-induced DNA double-strand breaks by homologous recombination in vertebrate cells. Mol Cell Biol 2003; 23:5421–5430.PubMedCrossRefGoogle Scholar
  39. 39.
    Donahue SL, Lundberg R, Saplis RC et al. Deficient regulation of DNA double-strand break repair in Fanconi anemia fibroblasts. J Biol Chem 2003; 278:29487–29495.PubMedCrossRefGoogle Scholar
  40. 40.
    Houghtaling S, Timmers C, Noll M et al. Epithelial cancer in Fanconi anemia complementation group D2 (Fancd2) knockout mice. Genes Dev 2003; 17:2021–2035.PubMedCrossRefGoogle Scholar
  41. 41.
    Howlett NG, Taniguchi T, Olson S et al. Biallelic inactivation of BRCA2 in Fanconi anemia. Science 2002; 297:606–609.PubMedCrossRefGoogle Scholar
  42. 42.
    Collins N, McManus R, Wooster R et al. Consistent loss of the wild type allele in breast cancers from a family linked to the BRCA2 gene on chromosome 13ql2–13. Oncogene 1995; 10:1673–1675.PubMedGoogle Scholar
  43. 43.
    Gudmundsson J, Johannesdottir G, Bergthorsson JT et al. Different tumor types from BRCA2 carriers show wild-type chromosome deletions on 13ql2–ql3. Cancer Res 1995; 55:4830–4832.PubMedGoogle Scholar
  44. 44.
    Powell SN, Kachnic LA. Roles of BRCA1 and BRCA2 in homologous recombination, DNA replication fidelity and the cellular response to ionizing radiation. Oncogene 2003; 22:5784–5791.PubMedCrossRefGoogle Scholar
  45. 45.
    Hakem R, de la Pompa JL, Mak TW. Developmental studies of Brca1 and Brca2 knock-out mice. J Mammary Gland Biol Neoplasia 1998; 3:431–445.PubMedCrossRefGoogle Scholar
  46. 46.
    Patel KJ, Yu VP, Lee H et al. Involvement of Brca2 in DNA repair. Mol Cell 1998; 1:347–357.PubMedCrossRefGoogle Scholar
  47. 47.
    Tutt A, Gabriel A, Bertwistle D et al. Absence of Brca2 causes genome instability by chromosome breakage and loss associated with centrosome amplification. Curr Biol 1999; 9:1107–1110.PubMedCrossRefGoogle Scholar
  48. 48.
    Moynahan ME, Cui TY, Jasin M. Homology-directed dna repair, mitomycin-c resistance, and chromosome stability is restored with correction of a Brcal mutation. Cancer Res 2001; 61:4842–4850.PubMedGoogle Scholar
  49. 49.
    Connor F, Bertwistle D, Mee PJ et al. Tumorigenesis and a DNA repair defect in mice with a truncating Brca2 mutation. Nat Genet 1997; 17:423–430.PubMedCrossRefGoogle Scholar
  50. 50.
    McAllister KA, Bennett LM, Houle CD et al. Cancer susceptibility of mice with a homozygous deletion in the COOH-terminal domain of the Brca2 gene. Cancer Res 2002; 62:990–994.PubMedGoogle Scholar
  51. 51.
    Hussain S, Witt E, Huber PA et al. Direct interaction of the Fanconi anaemia protein FANCG with BRCA2/FANCD1. Hum Mol Genet 2003.Google Scholar
  52. 52.
    Siddique MA, Nakanishi K, Taniguchi T et al. Function of the Fanconi anemia pathway in Fanconi anemia complementation group F and D1 cells. Exp Hematol 2001; 29:1448–1455.PubMedCrossRefGoogle Scholar
  53. 53.
    Meetei AR, Sechi S, Wallisch M et al. A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome. Mol Cell Biol 2003; 23:3417–3426.PubMedCrossRefGoogle Scholar

Copyright information

© Eurekah.com and Springer Science+Business Media 2006

Authors and Affiliations

  • Gary M. Kupfer
    • 1
  1. 1.Department of Microbiology and Department of Pediatrics, Division of Pediatric Hematology-OncologyUniversity of VirginiaCharlottesvilleUSA

Personalised recommendations