Molecular pathogenesis of Fanconi anemia: Recent progress

Blood

Volumn 107, Issue 11, 2006, Pages 4223-4233

  Taniguchi, Toshiyasu ^a   D'Andrea, Alan D ^b  

^a Fred Hutchinson Cancer Research Center   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; FANCONI ANEMIA GROUP D2 PROTEIN; FLUDARABINE; NICOTINAMIDE ADENINE DINUCLEOTIDE ADENOSINE DIPHOSPHATE RIBOSYLTRANSFERASE INHIBITOR; PROTEIN FAAP250; UBIQUITIN PROTEIN LIGASE; UNCLASSIFIED DRUG;

CELL CYCLE S PHASE; CHROMATIN; CHROMOSOME ANALYSIS; DNA CROSS LINKING; DNA REPAIR; DRUG MECHANISM; DRUG TOLERANCE; FANCONI ANEMIA; GENE TRANSFER; HUMAN; IMMUNOBLOTTING; METHYLATION; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; SOLID TUMOR; STEM CELL TRANSPLANTATION;

EID: 33744481750     PISSN: 00064971     EISSN: 00064971     Source Type: Journal    
DOI: 10.1182/blood-2005-10-4240     Document Type: Review

References (150)

1. Joenje H, Patel KJ. The emerging genetic and molecular basis of Fanconi anaemia. Nat Rev Genet. 2001;2:446-457.
2. Auerbach AD, Buchwald M, Joenje H. Fanconi anemia. In: Scriver CR, Sly WS, Childs B, et al, eds. The Metabolic and Molecular Bases of Inherited Disease. Vol 1. 8th ed. New York: McGraw-Hill; 2001:753-768.
3. Alter BP. Inherited bone marrow failure syndromes. In: Nathan DG, Orkin SH, Ginsburg D, Look AT, eds. Nathan and Oski's Hematology of Infancy and Childhood. Vol 1, 6th ed. Philadelphia, PA: Saunders; 2003:280-365.
4. Auerbach AD. Fanconi anemia diagnosis and the diepoxybutane (DEB) test. Exp Hematol. 1993;21:731-733.
5. Meetei AR, Medhurst AL, Ling C, et al. A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M. Nat Genet. 2005;37:958-963.
6. Levitus M, Rooimans MA, Steltenpool J, et al. Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes. Blood. 2004;103:2498-2503.
7. Levitus M, Waisfisz Q, Godthelp BC, et al. The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. Nat Genet. 2005;37:934-935.
8. Levran O, Attwooll C, Henry RT, et al. The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. Nat Genet. 2005;37:931-933.
9. Meetei AR, de Winter JP, Medhurst AL, et al. A novel ubiquitin ligase is deficient in Fanconi anemia. Nat Genet. 2003;35:165-170.
10. Timmers C, Taniguchi T, Hejna J, et al. Positional cloning of a novel Fanconi anemia gene, FANCD2. Mol Cell. 2001;7:241-248.
11. 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.
12. Litman R, Peng M, Jin Z, et al. BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ. Cancer Cell. 2005;8:255-265.
13. Howlett NG, Taniguchi T, Olson S, et al. Biallelic inactivation of BRCA2 in Fanconi anemia. Science. 2002;297:606-609.
14. D'Andrea AD, Grompe M. The Fanconi anaemia/ BRCA pathway. Nat Rev Cancer. 2003;3:23-34.
15. Venkitaraman AR. Tracing the network connecting BRCA and Fanconi anaemia proteins. Nat Rev Cancer. 2004;4:266-276.
16. Taniguchi T, Garcia-Higuera I, Xu B, et al. Convergence of the Fanconi anemia and ataxia telangiectasia signaling pathways. Cell. 2002;109:459-472.
17. 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.
18. 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.
19. Pichierri P, Franchitto A, Rosselli F. BLM and the FANC proteins collaborate in a common pathway in response to stalled replication forks. EMBO J. 2004;23:3154-3163.
20. Hirano S, Yamamoto K, Ishiai M, et al. Functional relationships of FANCC to homologous recombination, translesion synthesis, and BLM. EMBO J. 2005;24:418-427.
21. Pichierri P, Averbeck D, Rosselli F. DNA cross-link-dependent RAD50/MRE11/NBS1 subnuclear assembly requires the Fanconi anemia C protein. Hum Mol Genet. 2002;11:2531-2546.
22. Andreassen PR, D'Andrea AD, Taniguchi T. ATR couples FANCD2 monoubiquitination to the DNA-damage response. Genes Dev. 2004;18:1958-1963.
23. Pichierri P, Rosselli F. The DNA crosslink-induced S-phase checkpoint depends on ATR-CHK1 and ATR-NBS1-FANCD2 pathways. EMBO J. 2004;23:1178-1187.
24. Shiloh Y. ATM and related protein kinases: safeguarding genome integrity. Nat Rev Cancer. 2003;3:155-168.
25. Stracker TH, Theunissen JW, Morales M, Petrini JH. The Mre11 complex and the metabolism of chromosome breaks: the importance of communicating and holding things together. DNA Repair (Amst). 2004;3:845-854.
26. Hickson ID. RecQ helicases: caretakers of the genome. Nat Rev Cancer. 2003;3:169-178.
27. Kobayashi J, Antoccia A, Tauchi H, Matsuura S, Komatsu K. NBS1 and its functional role in the DNA damage response. DNA Repair (Amst). 2004;3:855-861.
28. Mani A, Gelmann EP. The ubiquitin-proteasome pathway and its role in cancer. J Clin Oncol. 2005;23:4776-4789.
29. Sigismund S, Polo S, Di Fiore PP. Signaling through monoubiquitination. Curr Top Microbiol Immunol. 2004;286:149-185.
30. 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.
31. 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.
32. Olopade OI, Wei M. FANCF methylation contributes to chemoselectivity in ovarian cancer. Cancer Cell. 2003;3:417-420.
33. Marsit CJ, Liu M, Nelson HH, Posner M, Suzuki M, Kelsey KT. Inactivation of the Fanconi anemia/ BRCA pathway in lung and oral cancers: implications for treatment and survival. Oncogene. 2004;23:1000-1004.
34. 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;64:2994-2997.
35. Dhillon VS, Shahid M, Husain SA. CpG methylation of the FHIT, FANCF, cyclin-D2, BRCA2 and RUNX3 genes in Granulosa cell tumors (GCTs) of ovarian origin. Mol Cancer. 2004;3:33.
36. Koul S, McKiernan JM, Narayan G, et al. Role of promoter hypermethylation in Cisplatin treatment response of male germ cell tumors. Mol Cancer. 2004;3:16.
37. van der Heijden MS, Yeo CJ, Hruban RH, Kern SE. Fanconi anemia gene mutations in young-onset pancreatic cancer. Cancer Res. 2003;63:2585-2588.
38. van der Heijden MS, Brody JR, Gallmeier E, et al. Functional defects in the Fanconi anemia pathway in pancreatic cancer cells. Am J Pathol. 2004;165:651-657.
39. Couch FJ, Johnson MR, Rabe K, et al. Germ line Fanconi anemia complementation group C mutations and pancreatic cancer. Cancer Res. 2005;65:383-386.
40. Turner N, Tutt A, Ashworth A. Hallmarks of 'BRCAness' in sporadic cancers. Nat Rev Cancer. 2004;4:814-819.
41. Chen Q, Van der Sluis PC, Boulware D, Hazlehurst LA, Dalton WS. The FA/BRCA pathway is involved in melphalan-induced DNA interstrand cross-link repair and accounts for melphalan resistance in multiple myeloma cells. Blood. 2005;106:698-705.
42. Tischkowitz M, Dokal I. Fanconi anaemia and leukaemia - clinical and molecular aspects. Br J Haematol. 2004;126:176-191.
43. Kutler DI, Singh B, Satagopan J, et al. A 20-year perspective on the International Fanconi Anemia Registry (IFAR). Blood. 2003;101:1249-1256.
44. Alter BP. Cancer in Fanconi anemia, 1927-2001. Cancer. 2003;97:425-440.
45. 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;51:1-12.
46. Tonnies H, Huber S, Kuhl JS, Gerlach A, Ebell W, Neitzel H. Clonal chromosome aberrations in bone marrow cells of Fanconi anemia patients: gains of the chromosomal segment 3q26q29 as an adverse risk factor. Blood. 2003;101:3872-3874.
47. Rosenberg PS, Greene MH, Alter BP. Cancer incidence in persons with Fanconi anemia. Blood. 2003;101:822-826.
48. Kutler DI, Wreesmann VB, Goberdhan A, et al. Human papillomavirus DNA and p53 polymorphisms in squamous cell carcinomas from Fanconi anemia patients. J Natl Cancer Inst. 2003;95:1718-1721.
49. van Zeeburg HJ, Snijders PJ, Joenje H, Brakenhoff RH. Re: human papillomavirus DNA and p53 polymorphisms in squamous cell carcinomas from Fanconi anemia patients [letter]. J Natl Cancer Inst. 2004;96:968.
50. Wagner JE, Tolar J, Levran O, et al. Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia. Blood. 2004;103:3226-3229.
51. Seal S, Barfoot R, Jayatilake H, et al. Evaluation of Fanconi anemia genes in familial breast cancer predisposition. Cancer Res. 2003;63:8596-8599.
52. Cantor SB, Bell DW, Ganesan S, et al. BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function. Cell. 2001;105:149-160.
53. Karppinen SM, Vuosku J, Heikkinen K, Allinen M, Winqvist R. No evidence of involvement of germline BACH1 mutations in Finnish breast and ovarian cancer families. Eur J Cancer. 2003;39:366-371.
54. Shimamura A, D'Andrea AD. Subtyping of Fanconi anemia patients: implications for clinical management [letter]. Blood. 2003;102:3459.
55. 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.
56. Hirsch B, Shimamura A, Moreau L, et al. Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. Blood. 2004;103:2554-2559.
57. Chandra S, Levran O, Jurickova I, et al. A rapid method for retrovirus-mediated identification of complementation groups in Fanconi anemia patients. Mol Ther. 2005;12:976-984.
58. 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.
59. Rosenberg PS, Alter BP, Socie G, Gluckman E. Secular trends in outcomes for Fanconi anemia patients who receive transplants: implications for future studies. Biol Blood Marrow Transplant. 2005;11:672-679.
60. Croop JM. Gene therapy for Fanconi anemia. Curr Hematol Rep. 2003;2:335-340.
61. Montes de Oca R, Andreassen PR, Margossian SP, et al. Regulated interaction of the Fanconi anemia protein, FANCD2, with chromatin. Blood. 2005;105:1003-1009.
62. Lo Ten Foe JR, Rooimans MA, Bosnoyan-Collins L, et al. Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. Nat Genet. 1996;14:320-323.
63. The-Fanconi-anaemia/breast-cancer-consortium. Positional cloning of the Fanconi anaemia group A gene. Nat Genet. 1996;14:324-328.
64. Ferrer M, Rodriguez JA, Spierings EA, de Winter JP, Giaccone G, Kruyt FA. Identification of multiple nuclear export sequences in Fanconi anemia group A protein that contribute to CRM1-dependent nuclear export. Hum Mol Genet. 2005;14:1271-1281.
65. Meetei AR, Levitus M, Xue Y, et al. X-linked inheritance of Fanconi anemia complementation group B. Nat Genet. 2004;36:1219-1224.
66. Strathdee CA, Gavish H, Shannon WR, Buchwald M. Cloning of cDNAs for Fanconi's anaemia by functional complementation. Nature. 1992;356:763-767.
67. Yamashita T, Barber DL, Zhu Y, Wu N, D'Andrea AD. The Fanconi anemia polypeptide FACC is localized to the cytoplasm. Proc Natl Acad Sci U S A. 1994;91:6712-6716.
68. Fagerlie SR, Koretsky T, Torok-Storb B, Bagby GC. Impaired type I IFN-induced Jak/STAT signaling in FA-C cells and abnormal CD4+ Th cell subsets in Fancc-/- mice. J Immunol. 2004;173:3863-3870.
69. Moynahan ME, Pierce AJ, Jasin M. BRCA2 is required for homology-directed repair of chromosomal breaks. Mol Cell. 2001;7:263-272.
70. Davies AA, Masson JY, McIlwraith MJ, et al. Role of BRCA2 in control of the RAD51 recombination and DNA repair protein. Mol Cell. 2001;7:273-282.
71. Daniels MJ, Wang Y, Lee M, Venkitaraman AR. Abnormal cytokinesis in cells deficient in the breast cancer susceptibility protein BRCA2. Science. 2004;306:876-879.
72. Pellegrini L, Yu DS, Lo T, et al. Insights into DNA recombination from the structure of a RAD51-BRCA2 complex. Nature. 2002;420:287-293.
73. Yang H, Jeffrey PD, Miller J, et al. BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure. Science. 2002;297:1837-1848.
74. Wilson JH, Elledge SJ. Cancer. BRCA2 enters the fray. Science. 2002;297:1822-1823.
75. Li J, Zou C, Bai Y, Wazer DE, Band V, Gao Q. DSS1 is required for the stability of BRCA2. Oncogene. 2006;25:1186-1194.
76. Krogan NJ, Lam MH, Fillingham J, et al. Proteasome involvement in the repair of DNA double-strand breaks. Mol Cell. 2004;16:1027-1034.
77. de Winter JP, Leveille F, van Berkel CG, et al. Isolation of a cDNA representing the Fanconi anemia complementation group E gene. Am J Hum Genet. 2000;67:1306-1308.
78. Taniguchi T, D'Andrea AD. The Fanconi anemia protein, FANCE, promotes the nuclear accumulation of FANCC. Blood. 2002;100:2457-2462.
79. Pace P, Johnson M, Tan WM, et al. FANCE: the link between Fanconi anaemia complex assembly and activity. EMBO J. 2002;21:3414-3423.
80. Wang X, Andreassen PR, D'Andrea AD. Functional interaction of monoubiquitinated FANCD2 and BRCA2/FANCD1 in chromatin. Mol Cell Biol. 2004;24:5850-5862.
81. de Winter JP, Rooimans MA, van Der Weel L, et al. The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. Nat Genet. 2000;24:15-16.
82. Leveille F, Blom E, Medhurst AL, et al. The Fanconi anemia gene product FANCF is a flexible adaptor protein. J Biol Chem. 2004;279:39421-39430.
83. de Winter JP, Waisfisz Q, Rooimans MA, et al. The Fanconi anaemia group G gene FANCG is identical with XRCC9. Nat Genet. 1998;20:281-283.
84. Liu N, Lamerdin JE, Tucker JD, et al. The human XRCC9 gene corrects chromosomal instability and mutagen sensitivities in CHO UV40 cells. Proc Natl Acad Sci U S A. 1997;94:9232-9237.
85. Blom E, van de Vrugt HJ, de Vries Y, de Winter JP, Arwert F, Joenje H. Multiple TPR motifs characterize the Fanconi anemia FANCG protein. DNA Repair (Amst). 2004;3:77-84.
86. Mi J, Qiao F, Wilson JB, et al. FANCG is phosphorylated at serines 383 and 387 during mitosis. Mol Cell Biol. 2004;24:8576-8585.
87. Qiao F, Mi J, Wilson JB, et al. Phosphorylation of fanconi anemia complementation group G protein, FANCG, at serine 7 is important for function of the FA pathway. J Biol Chem. 2004;279:46035-46045.
88. Yu X, Chini CC, He M, Mer G, Chen J. The BRCT domain is a phospho-protein binding domain. Science. 2003;302:639-642.
89. Bridge WL, Vandenberg CJ, Franklin RJ, Hiom K. The BRIP1 helicase functions independently of BRCA1 in the Fanconi anemia pathway for DNA crosslink repair. Nat Genet. 2005;37:953-957.
90. Agoulnik AI, Lu B, Zhu Q, et al. A novel gene, Pog, is necessary for primordial germ cell proliferation in the mouse and underlies the germ cell deficient mutation, gcd. Hum Mol Genet. 2002;11:3047-3053.
91. Komori K, Fujikane R, Shinagawa H, Ishino Y. Novel endonuclease in Archaea cleaving DNA with various branched structure. Genes Genet Syst. 2002;77:227-241.
92. Hussain S, Wilson JB, Medhurst AL, et al. Direct interaction of FANCD2 with BRCA2 in DNA damage response pathways. Hum Mol Genet. 2004;13:1241-1248.
93. Matsushita N, Kitao H, Ishiai M, et al. A FancD2-monoubiquitin fusion reveals hidden functions of Fanconi anemia core complex in DNA repair. Mol Cell. 2005;19:841-847.
94. Hussain S, Witt E, Huber PA, Medhurst AL, Ashworth A, Mathew CG. Direct interaction of the Fanconi anaemia protein FANCG with BRCA2/ FANCD1. Hum Mol Genet. 2003;12:2503-2510.
95. Vandenberg CJ, Gergely F, Ong CY, et al. BRCA1-independent ubiquitination of FANCD2. Mol Cell. 2003;12:247-254.
96. Taniguchi T, Garcia-Higuera I, Andreassen PR, Gregory RC, Grompe M, D'Andrea AD. S-phase-specific interaction of the Fanconi anemia protein, FANCD2, with BRCA1 and RAD51. Blood. 2002;100:2414-2420.
97. 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.
98. Godthelp BC, Wiegant WW, Waisfisz Q, et al. Inducibility of nuclear Rad51 foci after DNA damage distinguishes all Fanconi anemia complementation groups from D1/BRCA2. Mutat Res. 2005;594:39-45.
99. Yamamoto K, Hirano S, Ishiai M, et al. Fanconi anemia protein FANCD2 promotes immunoglobulin gene conversion and DNA repair through a mechanism related to homologous recombination. Mol Cell Biol. 2005;25:34-43.
100. 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.
101. Ohashi A, Zdzienicka MZ, Chen J, Couch FJ. Fanconi anemia complementation group D2 (FANCD2) functions independently of BRCA2-and RAD51-associated homologous recombination in response to DNA damage. J Biol Chem. 2005;280:14877-14883.
102. Nijman SM, Huang TT, Dirac AM, et al. The deubiquitinating enzyme USP1 regulates the Fanconi anemia pathway. Mol Cell. 2005;17:331-339.
103. Kannouche PL, Wing J, Lehmann AR. Interaction of human DNA polymerase eta with monoubiquitinated PCNA: a possible mechanism for the polymerase switch in response to DNA damage. Mol Cell. 2004;14:491-500.
104. Dronkert ML, Kanaar R. Repair of DNA interstrand cross-links. Mutat Res. 2001;486:217-247.
105. Reuter TY, Medhurst AL, Waisfisz Q, et al. Yeast two-hybrid screens imply involvement of Fanconi anemia proteins in transcription regulation, cell signaling, oxidative metabolism, and cellular transport. Exp Cell Res. 2003;289:211-221.
106. Qiao F, Moss A, Kupfer GM. Fanconi anemia proteins localize to chromatin and the nuclear matrix in a DNA damage- and cell cycle-regulated manner. J Biol Chem. 2001;276:23391-23396.
107. 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;279:26201-26209.
108. Mi J, Kupfer GM. The Fanconi anemia core complex associates with chromatin during S phase. Blood. 2005;105:759-766.
109. Park WH, Margossian S, Horwitz AA, Simons AM, D'Andrea AD, Parvin JD. Direct DNA binding activity of the Fanconi anemia D2 protein. J Biol Chem. 2005;280:23593-23598.
110. Pichierri P, Averbeck D, Rosselli F. DNA cross-link-dependent RAD50/MRE11/NBS1 subnuclear assembly requires the Fanconi anemia C protein [published correction appears in Hum Mol Genet. 2004;13:1289]. Hum Mol Genet. 2002;11:2531-2546.
111. Sridharan D, Brown M, Lambert WC, McMahon LW, Lambert MW. Nonerythroid alphaII spectrin is required for recruitment of FANCA and XPF to nuclear foci induced by DNA interstrand cross-links. J Cell Sci. 2003;116:823-835.
112. Niedzwiedz W, Mosedale G, Johnson M, Ong CY, Pace P, Patel KJ. The Fanconi anaemia gene FANCC promotes homologous recombination and error-prone DNA repair. Mol Cell. 2004;15:607-620.
113. 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 U S A. 1990;87:8383-8387.
114. Rothfuss A, Grompe M. Repair kinetics of genomic interstrand DNA cross-links: evidence for DNA double-strand break-dependent activation of the Fanconi anemia/BRCA pathway. Mol Cell Biol. 2004;24:123-134.
115. Stark JM, Pierce AJ, Oh J, Pastink A, Jasin M. Genetic steps of mammalian homologous repair with distinct mutagenic consequences. Mol Cell Biol. 2004;24:9305-9316.
116. Nakanishi K, Yang YG, Pierce AJ, et al. Human Fanconi anemia monoubiquitination pathway promotes homologous DNA repair. Proc Natl Acad Sci U S A. 2005;102:1110-1115.
117. Yang YG, Herceg Z, Nakanishi K, et al. The Fanconi anemia group A protein modulates homologous repair of DNA double-strand breaks in mammalian cells. Carcinogenesis. 2005;26:1731-1740.
118. Mosedale G, Niedzwiedz W, Alpi A, et al. The vertebrate Hef ortholog is a component of the Fanconi anemia tumor-suppressor pathway. Nat Struct Mol Biol. 2005;26:1731-1740.
119. Donahue SL, Lundberg R, Saplis R, Campbell C. Deficient regulation of DNA double-strand break repair in Fanconi anemia fibroblasts. J Biol Chem. 2003;278:29487-29495.
120. Escarceller M, Rousset S, Moustacchi E, Papadopoulo D. The fidelity of double strand breaks processing is impaired in complementation groups B and D of Fanconi anemia, a genetic instability syndrome. Somat Cell Mol Genet. 1997;23:401-411.
121. Duckworth-Rysiecki G, Taylor AM. Effects of ionizing radiation on cells from Fanconi's anemia patients. Cancer Res. 1985;45:416-420.
122. Alter BP. Radiosensitivity in Fanconi's anemia patients. Radiother Oncol. 2002;62:345-347.
123. Collis SJ, DeWeese TL, Jeggo PA, Parker AR. The life and death of DNA-PK. Oncogene. 2005;24:949-961.
124. Houghtaling S, Newell A, Akkari Y, Taniguchi T, Olson S, Grompe M. Fancd2 functions in a double strand break repair pathway that is distinct from non-homologous end joining. Hum Mol Genet. 2005;14:3027-3033.
125. Howlett NG, Taniguchi T, Durkin SG, D'Andrea AD, Glover TW. The Fanconi anemia pathway is required for the DNA replication stress response and for the regulation of common fragile site stability. Hum Mol Genet. 2005;14:693-701.
126. Joenje H, Arwert F, Eriksson AW, de Koning H, Oostra AB. Oxygen-dependence of chromosomal aberrations in Fanconi's anaemia. Nature. 1981;290:142-143.
127. Cumming RC, Lightfoot J, Beard K, Youssoufian H, O'Brien PJ, Buchwald M. Fanconi anemia group C protein prevents apoptosis in hematopoietic cells through redox regulation of GSTP1. Nat Med. 2001;7:814-820.
128. Zhang X, Li J, Sejas DP, Rathbun KR, Bagby GC, Pang Q. The Fanconi anemia proteins functionally interact with the protein kinase regulated by RNA (PKR). J Biol Chem. 2004;279:43910-43919.
129. Saadatzadeh MR, Bijangi-Vishehsaraei K, Hong P, Bergmann H, Haneline LS. Oxidant hypersensitivity of Fanconi anemia type C-deficient cells is dependent on a redox-regulated apoptotic pathway. J Biol Chem. 2004;279:16805-16812.
130. Pang Q, Christianson TA, Keeble W, Koretsky T, Bagby GC. The anti-apoptotic function of Hsp70 in the PKR-mediated death signaling pathway requires the Fanconi anemia protein, FANCC. J Biol Chem. 2002;277:49638-49643.
131. Pang Q, Fagerlie S, Christianson TA, et al. The Fanconi anemia protein FANCC binds to and facilitates the activation of STAT1 by gamma interferon and hematopoietic growth factors. Mol Cell Biol. 2000;20:4724-4735.
132. Brodeur I, Goulet I, Tremblay CS, et al. Regulation of the Fanconi anemia group C protein through proteolytic modification. J Biol Chem. 2004;279:4713-4720.
133. Bogliolo M, Cabre O, Callen E, et al. The Fanconi anaemia genome stability and tumour suppressor network. Mutagenesis. 2002;17:529-538.
134. 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.
135. Wong JC, Alon N, McKerlie C, Huang JR, Meyn MS, Buchwald M. Targeted disruption of exons 1 to 6 of the Fanconi Anemia group A gene leads to growth retardation, strain-specific microphthalmia, meiotic defects and primordial germ cell hypoplasia. Hum Mol Genet. 2003;12:2063-2076.
136. Carreau M. Not-so-novel phenotypes in the Fanconi anemia group D2 mouse model [letter]. Blood. 2004;103:2430.
137. Freie BW, Li X, Ciccone SL, et al. Fanconi Anemia type C and p53 cooperate in apoptosis and tumorigenesis. Blood. 2003;102:4146-4152.
138. Houghtaling S, Granville L, Akkari Y, et al. Heterozygosity for p53 (Trp53+/-) accelerates epithelial tumor formation in Fanconi anemia complementation group D2 (Fancd2) knockout mice. Cancer Res. 2005;65:85-91.
139. Moynahan ME. The cancer connection: BRCA1 and BRCA2 tumor suppression in mice and humans. Oncogene. 2002;21:8994-9007.
140. Teodoridis JM, Hall J, Marsh S, et al. CpG island methylation of DNA damage response genes in advanced ovarian cancer. Cancer Res. 2005;65:8961-8967.
141. van der Heijden MS, Brody JR, Kern SE. Functional screen of the Fanconi anemia pathway in cancer cells by fancd2 immunoblot. Cancer Biol Ther. 2004;3:534-537.
142. Condie A, Powles RL, Hudson CD, et al. Analysis of the Fanconi anaemia complementation group A gene in acute myeloid leukaemia. Leuk Lymphoma. 2002;43:1849-1853.
143. 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;18:420-425.
144. Lensch MW, Tischkowitz M, Christianson TA, et al. Acquired FANCA dysfunction and cytogenetic instability in adult acute myelogenous leukemia. Blood. 2003;102:7-16.
145. Kraunz KS, Nelson HH, Lemos M, Godleski JJ, Wiencke JK, Kelsey KT. Homozygous deletion of p16(INK4a) and tobacco carcinogen exposure in nonsmall cell lung cancer. Int J Cancer. 2006;118:1364-1369.
146. Hazlehurst LA, Enkemann SA, Beam CA, et al. Genotypic and phenotypic comparisons of de novo and acquired melphalan resistance in an isogenic multiple myeloma cell line model. Cancer Res. 2003;63:7900-7906.
147. Ferrer M, de Winter JP, Mastenbroek DC, et al. Chemosensitizing tumor cells by targeting the Fanconi anemia pathway with an adenovirus overexpressing dominant-negative FANCA. Cancer Gene Ther. 2004;11:539-546.
148. Farmer H, McCabe N, Lord CJ, et al. Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy. Nature. 2005;434:917-921.
149. Bryant HE, Schultz N, Thomas HD, et al. Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase. Nature. 2005;434:913-917.
150. Huang TT, Nijman SM, Mirchandani KD, et al. Regulation of monoubiquitinated PCNA by DUB autocleavage. Nat Cell Biol. 2006;8:341-347.