Accès gratuit
Numéro
Med Sci (Paris)
Volume 21, Numéro 8-9, Août–Septembre 2005
Page(s) 730 - 736
Section M/S revues
DOI https://doi.org/10.1051/medsci/2005218-9730
Publié en ligne 15 août 2005
  1. Fanconi G. Familiäre infantile perniziosaartige Anämie (perniziöses Blutbild und Konstitution). Jahrb Kinderheilk 1927; 117 : 257–80.
  2. Auerbach AD, Buchwald M, Jonje A. Fanconi anemia. In : Vogelstein B, Kinzler KW, eds. The genetic basis of human cancer. New York : McGraw-Hill, 1998 : 317–32.
  3. D’Andrea AD, Grompe M. The Fanconi anemia/BRCA pathway. Nat Rev Cancer 2003; 3 : 23–34.
  4. Fanconi G. Familial constitutional panmyelocytopathy, Fanconi’s anemia (FA). I. Clinical aspects. Semin Hematol 1967; 4 : 233–40.
  5. Swift M. Fanconi’s anemia in the genetics of neoplasia. Nature 1971; 230 : 370–3.
  6. Verlander PC, Kaporis A, Liu Q, et al. Carrier frequency of the IVS4+4A>T mutation of the Fanconi anemia FAC in the Ashkenasi Jewish population. Blood 1995; 86 : 4034–8.
  7. Schroeder TM, Kurt R. Spontaneous chromosome breakage and high incidence of leukemia in inherited disease. Blood 1971; 37 : 96–112.
  8. Joenje H, Patel KJ. The emerging genetic and molecular basis of Fanconi anaemia. Nature Rev Genet 2001; 2 : 446–57.
  9. Buchwald M, Moustacchi E. Is Fanconi anemia caused by a defect in the processing of DNA damage ? Mutation Res 1998; 408 : 75–90.
  10. Auerbach AD. Fanconi anemia diagnosis and the diepoxybutane (DEB) test. Exp Hematol 1993; 21 : 731–3.
  11. Auerbach AD, Allen RG. Leukemia and preleukemia in Fanconi anemia patients : a review of the literature and report of the International Fanconi Anemia Registry. Cancer Genet Cytogenet 1991; 51 : 1–15.
  12. Rosenberg PS, Greene MH, Alter BP. Cancer incidence in persons with Fanconi anemia. Blood 2003; 101 : 822–6.
  13. Gluckman E, BroxmeyerR HE, Auerbach AD, et al. Hematopoietic reconstitution in a patient with Fanconi’s anemia by means of umbilical cord blood from an HLA-identical sibling. N Engl J Med 1989; 321 : 1174–8.
  14. Gregory JJ., Wagner JE, Verlander PC, et al. Somatic mosaicism in Fanconi anemia : evidence of genotypic reversion in lymphohematopoietic stem cells. Proc Natl Acad Sci USA 2001; 98 : 2532–7.
  15. Howlett NG, Taniguchi T, Olson S, et al. Biallelic inactivation of BRCA2 in Fanconi anemia. Science 2002; 297 : 606–9.
  16. Meetei AR, de Winter JP, Medhurst AL, et al. A novel ubiquitin ligase is deficient in Fanconi anemia. Nature Genet 2003; 35 : 165–70.
  17. Meetei AR, Levitus M, Xue Y, et al. X-linked inheritance of Fanconi anemia complementation group B. Nature Genet 2004; 36 : 1219–24.
  18. Warren M, Smith A, Partridge N, et al. Structural analysis of the chicken BRCA2 gene facilitates identification of functional domains and disease causing mutations. Hum Mol Genet 2002; 11 : 841–51.
  19. Timmers C, Taniguchi T, Hejna J, et al. Positional cloning of a novel Fanconi FANCD2. Mol Cell 2001; 7 : 241–8.
  20. Garcia-Higuera I, Kuang Y, Naf D, et al. The Fanconi anemia proteins, FANCA, FANCC and FANCG/XRCC9 interact in a functional nuclear complex. Mol Cell Biol 1999; 19 : 4866–73.
  21. Pace P, Johnson M, Tan WM, et al. FANCE : the link between Fanconi anemia complex assembly and activity. EMBO J 2002; 21 : 3414–23.
  22. Levitus M, Rooimans MA, Steltenpool J, et al. Heterogeneity in Fanconi anemia : evidence for 2 new genetic subtypes. Blood 2004; 103 : 2498–2503.
  23. 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 : 249–62.
  24. Medhurst AL, Huber PA, Waisfisz Q, et al. Direct interaction of the five known Fanconi anaemia proteins suggest a common functional pathway. Hum Mol Genet 2001; 10 : 423–9.
  25. Gordon SM, Buchwald M. Fanconi anemia protein complex : mapping proteins interactions in the yeast 2- and 3-hybrid systems. Blood 2003; 102 : 136–41.
  26. Thomashevski A, High AA, Drozd M, et al. The Fanconi anemia core complex forms four complexes of different sizes in different subcellular compartments. J Biol Chem 2004; 279 : 26201–9.
  27. Schimamura A, de Oca RM, Svenson JL, et al. A novel diagnostic screen for defects in the Fanconi anemia pathway. Blood 2002 ; 100; 4649–54.
  28. Soulier J, Leblanc T, Larghero J, et al., Detection of somatic mosaicism and classification of Fanconi anemia patients by analysis of the FA/BRCA pathway. Blood 2005; 105 :1329–36.
  29. Folias A, Matkovic M, Bruun D, et al. BRCA1 interacts directly with the Fanconi anemia protein FANCA. Hum MolGenet 2002; 11 : 2591–7.
  30. Hussain SE, Witt PA, Huber AL, et al. Direct interaction of the Fanconi anemia protein FANCG with BRCA2/FANCD1. Hum Mol Genet 2003; 12 : 2503–10.
  31. Wang XZ, Andreassen PR, d’Andrea AD. Functional interaction of monoubiquitinated FANCD2 and BRCA2/FANCD1 in chromatin. Mol Cell Biol 2004; 24 : 5850–62.
  32. Nijman SMB, Huang TT, Dirac AMG, et al. The deuibiquitinating enzyme USP1 regulates the Fanconi anemia pathway. Mol Cell 2005; 17 : 331–9.
  33. Taniguchi T, Garcia-Higuera I, Xu B, et al. Convergence of the Fanconi anemia and ataxia telangiectasia signaling pathways. Cell 2002; 109 : 459–72.
  34. Nakanishi K, Taniguchi T, Ranganathan V, et al. Interaction of FANCD2 and NBS1 in the DNA damage response. Nat Cell Biol 2002; 4 : 913–20.
  35. Pichierri P, Rosselli F. The DNA crosslink-induced S-phase checkpoint depends on ATR-CHK1 and ATR-NBS1-FANCD2 pathways. EMBO J 2004; 23 : 1178–87.
  36. Andreassen PR, D’Andrea A, Taniguchi T. ATR couples FANCD2 monoubiquitination to the DNA-damage response. Genes Dev 2004; 18 : 1958–63.
  37. Shiloh Y. ATM and related protein kinases : safeguarding genome integrity. Nat Rev Cancer 2003; 3 : 155–8.
  38. D’Amours D, Jackson SP. The Mre11 complex : at the crossroads of DNA repair and checkpoint signaling. Nat Rev Mol Cell Biol 2002; 5 : 317–27.
  39. FujiwaraY, Tatsumi M. Cross-link repair in human cells and its possible defect in Fanconi’s anemia cells. J Mol Biol 1977; 113 : 635–49.
  40. Papadopoulo D, Averbeck D, Moustacchi E. The fate of 8-methoxypsoralen photoinduced DNA interstrand cross-links in Fanconi’s anemia cells of defined genetic complementation groups. Mutat Res 1987; 184 : 271–80.
  41. Rousset S, Nocentini S, Revet B, Moustacchi E. Molecular analysis by electron microscopy of the removal of psoralen-photoinduced DNA cross-links in normal and Fanconi’s anemia fibroblasts. Cancer Res 1990; 50 : 2443–8.
  42. Papadopoulo D, Guillouf C, Mohrenweiser H, Moustacchi E. Hypomutability in Fanconi anemia cells is associated with increased deletion frequency at the HPRT locus. Proc Natl Acad Sci USA 1990; 87 : 8383–7.
  43. Lambert MW, Tsongalis GJ, Lambert WC, et al. Defective DNA endonuclease activities in Fanconi’s anemia cells, complementation groups A and B. Mutat Res 1992; 273 : 57–71.
  44. Escarceller M, Buchwald M, Singleton BK, et al. Fanconi anemia C gene product plays a role in the fidelity of blunt DNA end-joining. J Mol Biol 1998; 279 : 375–85.
  45. Lundberg R, Mavinakere M, Campbell C. Deficient DNA end joining activity in extracts from Fanconi anemia fibroblasts. J Biol Chem 2001; 276 : 9543–9.
  46. Centurion SA, Kuo HR, Lambert WC. Damage-resistant DNA synthesis in Fanconi anemia cells treated with a DNA cross-linking agent. Exp Cell Res 2000; 260 ; 216–21.
  47. Sala-Trepat M, Rouillard D, Escarceller M, et al. The arrest of S-phase progression is impaired in Fanconi anemia cells. Exp Cell Res 2000; 260 : 208–15.
  48. Dutrillaux B, Aurias A, Dutrillaux AM, et al. The cell cycle of lymphocytes in Fanconi anemia. Hum Genet 1992; 62 : 327–32.
  49. Hursh B, Shimamura A, Moreau L, et al. Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. Blood 2004; 103 : 2554 –9.
  50. Tischkowitz MD, Morgan NV, Grimwade D, et al. Deletion and reduced expression of the Fanconi anemia FANCA gene in sporadic acute myeloid leukemia. Leukemia 2004; 18 : 420–5.
  51. Narayan G, Arias-Pulido H, Nandula SV, et al. Promoter hypermethylation of FANCF : disruption of Fanconi anemia-BRCA pathway in cervical cancer. Cancer Res 2004; 64 : 2994–7.

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