Fanconi anemia: Genes and function(s) revisited;L'anémie de Fanconi: Gènes et fonction(s) revisités

Medecine/Sciences

Volumn 21, Issue 8-9, 2005, Pages 730-736

  Papadopoulo, Dora ^a   Moustacchi, Ethel ^a  

^a CNRS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ATM PROTEIN; BRCA1 PROTEIN; BRCA2 PROTEIN; CROSS LINKING REAGENT; DOUBLE STRANDED DNA; FANCONI ANEMIA GROUP A PROTEIN; FANCONI ANEMIA GROUP D2 PROTEIN; FANCONI ANEMIA PROTEIN; GENE PRODUCT; MRE11 PROTEIN; NIBRIN; PROTEIN FANCD3; RAD50 PROTEIN; UNCLASSIFIED DRUG;

ACUTE GRANULOCYTIC LEUKEMIA; ATM GENE; ATR GENE; BONE MARROW DEPRESSION; CANCER RISK; CARCINOGENESIS; CELL NUCLEUS; CELLULAR DISTRIBUTION; CHROMOSOME ABERRATION; COMPLEX FORMATION; CONGENITAL MALFORMATION; DNA CROSS LINKING; DNA REPAIR; DNA REPLICATION; DNA STRAND BREAKAGE; FANCA GENE; FANCB GENE; FANCC GENE; FANCD GENE; FANCE GENE; FANCF GENE; FANCG GENE; FANCH GENE; FANCI GENE; FANCJ GENE; FANCONI ANEMIA; GANCD1 GENE; GENE; GENE FUNCTION; GENE MUTATION; HUMAN; IONIZING RADIATION; NBS1 GENE; ONCOGENE; PHENOTYPE; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN PROTEIN INTERACTION; PROTEIN TRANSPORT; REVIEW; SIGNAL TRANSDUCTION; UBIQUITINATION;

EID: 30344484886     PISSN: 07670974     EISSN: None     Source Type: Journal    
DOI: 10.1051/medsci/2005218-9730     Document Type: Review

References (51)

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. Hewlett 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 V, 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 BRCAl 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. Folios 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 DMA-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 Mrell complex: at the crossroads of DNA repair and checkpoint signaling. Nat Rev Mol Cell Biol 2002; 5: 317-27.
39. Fujiwara Y, 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.