Fanconi anemia: A disorder defective in the DNA damage response

International Journal of Hematology

Volumn 93, Issue 4, 2011, Pages 417-424

  Kitao, Hiroyuki ^a   Takata, Minoru ^b  

^a KYUSHU UNIVERSITY   (Japan)

^b KYOTO UNIVERSITY   (Japan)

Author keywords

DNA damage signaling; DNA repair; Fanconi anemia; Interstrand crosslink; The FA pathway

Indexed keywords

FANCONI ANEMIA PROTEIN;

DNA CROSS LINKING; DNA DAMAGE; DNA REPAIR; DOUBLE STRANDED DNA BREAK; FANCONI ANEMIA; GENE; GENE MUTATION; GENE REPLICATION; HOMOLOGOUS RECOMBINATION; HUMAN; PHENOTYPE; REVIEW; SIGNAL TRANSDUCTION;

ANIMALS; DNA; DNA DAMAGE; DNA REPAIR; FANCONI ANEMIA; HUMANS;

EID: 79955942240     PISSN: 09255710     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12185-011-0777-z     Document Type: Review

References (50)

1. D'Andrea AD. Susceptibility pathways in Fanconi's anemia, breast, cancer. N Engl J Med. 2010;362:1909-19.
2. Sasaki MS, Tonomura A. A high susceptibility of Fanconi's anemia to chromosome breakage by DNA cross-linking agents. Cancer Res. 1973;33:1829-36.
3. Ciccia A, Ling C, Coulthard R, Yan Z, Xue Y, Meetei AR, Laghmani el H, Joenje H, McDonald N, de Winter JP, Wang W, West SC. Identification of FAAP24, a Fanconi anemia core complex protein that interacts with FANCM. Mol Cell. 2007;25:331-43.
4. Matsushita N, Kitao H, Ishiai M, Nagashima N, Hirano S, Okawa K, Ohta T, Yu DS, McHugh PJ, Hickson ID, Venkitaraman AR, Kurumizaka H, Takata M. A FancD2-monoubiquitin fusion reveals hidden functions of Fanconi anemia core complex in DNA repair. Mol Cell. 2005;19:841-7. (Pubitemid 41316677)
5. Wilson JB, Yamamoto K, Marriott AS, Hussain S, Sung P, Hoatlin ME, Mathew CG, Takata M, Thompson LH, Kupfer GM, Jones NJ. FANCG promotes formation of a newly identified protein complex containing BRCA2, FANCD2 and XRCC3. Oncogene. 2008;27:3641-52.
6. Horejsi Z, Collis SJ, Boulton SJ. FANCM-FAAP24 and HCLK2: roles in ATR signalling and the Fanconi anemia pathway. Cell Cycle. 2009;8:1133-7.
7. Collis SJ, Ciccia A, Deans AJ, Horejsi Z, Martin JS, Maslen SL, Skehel JM, Elledge SJ, West SC, Boulton SJ. FANCM FAAP24 function in ATR-mediated checkpoint signaling independently of the Fanconi anemia core complex. Mol Cell. 2008;32:313-24.
8. Meetei AR, Medhurst AL, Ling C, Xue Y, Singh TR, Bier P, Steltenpool J, Stone S, Dokal I, Mathew CG, Hoatlin M, Joenje H, de Winter JP, Wang W. A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M. Nat Genet. 2005;37:958-63. (Pubitemid 43086152)
9. Mosedale G, Niedzwiedz W, Alpi A, Perrina F, Pereira-Leal JB, Johnson M, Langevin F, Pace P, Patel KJ. The vertebrate Hef ortholog is a component of the Fanconi anemia tumor-suppressor pathway. Nat Struct Mol Biol. 2005;12:763-71. (Pubitemid 43086250)
10. Gari K, Decaillet C, Stasiak AZ, Stasiak A, Constantinou A. The Fanconi anemia protein FANCM can promote branch migration of Holliday junctions, replication forks. Mol Cell. 2008;29:141-8.
11. Singh TR, Saro D, Ali AM, Zheng XF, Du CH, Killen MW, Sachpatzidis A, Wahengbam K, Pierce AJ, Xiong Y, Sung P, Meetei AR. MHF1-MHF2, a histone-fold-containing protein complex, participates in the Fanconi anemia pathway via FANCM. Mol Cell. 2010;37:879-86.
12. Yan Z, Delannoy M, Ling C, Daee D, Osman F, Muniandy PA, Shen X, Oostra AB, Du H, Steltenpool J, Lin T, Schuster B, Decaillet C, Stasiak A, Stasiak AZ, Stone S, Hoatlin ME, Schindler D, Woodcock CL, Joenje H, Sen R, de Winter JP, Li L, Seidman MM, Whitby MC, Myung K, Constantinou A, Wang W. A histone-fold complex and FANCM form a conserved DNAremodeling complex to maintain genome stability. Mol Cell. 2010;37:865-78.
13. Schwab RA, Blackford AN, Niedzwiedz W. ATR activation, replication fork restart are defective in FANCM-deficient cells. EMBO J. 2010;29:806-18.
14. Luke-Glaser S, Luke B, Grossi S, Constantinou A. FANCM regulates DNA chain elongation, is stabilized by S-phase checkpoint signalling. EMBO J. 2010;29:795-805.
15. Wang W. Emergence of a DNA-damage response network consisting of Fanconi anaemia, BRCA proteins. Nat Rev Genet. 2007;8:735-48.
16. Garcia-Higuera I, Taniguchi T, Ganesan S, Meyn MS, Timmers C, Hejna J, Grompe M, D'Andrea AD. Interaction of the Fanconi anemia proteins, BRCA1 in a common pathway. Mol Cell. 2001;7:249-62.
17. Smogorzewska A, Matsuoka S, Vinciguerra P, McDonald ER 3rd, Hurov KE, Luo J, Ballif BA, Gygi SP, Hofmann K, D'Andrea AD, Elledge SJ. Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair. Cell. 2007;129:289-301. (Pubitemid 46584733)
18. Vaz F, Hanenberg H, Schuster B, Barker K, Wiek C, Erven V, Neveling K, Endt D, Kesterton I, Autore F, Fraternali F, Freund M, Hartmann L, Grimwade D, Roberts RG, Schaal H, Mohammed S, Rahman N, Schindler D, Mathew CG. Mutation of the RAD51C gene in a Fanconi anemia-like disorder. Nat Genet. 2010;42:406-9.
19. Neveling K, Endt D, Hoehn H, Schindler D. Genotype-phenotype correlations in Fanconi anemia. Mutat Res. 2009;668:73-91.
20. 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.
21. Cantor S, Drapkin R, Zhang F, Lin Y, Han J, Pamidi S, Livingston DM. The BRCA1-associated protein BACH1 is a DNA helicase targeted by clinically relevant inactivating mutations. Proc Natl Acad Sci USA. 2004;101:2357-62. (Pubitemid 38269316)
22. Zhang F, Fan Q, Ren K, Andreassen PR. PALB2 functionally connects the breast cancer susceptibility proteins BRCA1 and BRCA2. Mol Cancer Res. 2009;7:1110-8.
23. Hussain S, Wilson JB, Medhurst AL, Hejna J, Witt E, Ananth S, Davies A, Masson JY, Moses R, West SC, de Winter JP, Ashworth A, Jones NJ, Mathew CG. Direct interaction of FANCD2 with BRCA2 in DNA damage response pathways. Hum Mol Genet. 2004;13:1241-8. (Pubitemid 38877877)
24. Wang X, Andreassen PR, D'Andrea AD. Functional interaction of monoubiquitinated FANCD2 and BRCA2/FANCD1 in chromatin. Mol Cell Biol. 2004;24:5850-62. (Pubitemid 38787970)
25. 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;280:14877-83. (Pubitemid 40562837)
26. Kitao H, Yamamoto K, Matsushita N, Ohzeki M, Ishiai M, Takata M. Functional interplay between BRCA2/FancD1 and FancC in DNA repair. J Biol Chem. 2006;281:21312-20. (Pubitemid 44115470)
27. Zhi G, Wilson JB, Chen X, Krause DS, Xiao Y, Jones NJ, Kupfer GM, Fanconi anemia complementation group. FANCD2 protein serine 331 phosphorylation is important for fanconi anemia pathway function and BRCA2 interaction. Cancer Res. 2009;69:8775-83.
28. 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;12:2503-10. (Pubitemid 37220414)
29. Takata M, Ishiai M, Kitao H. The Fanconi anemia pathway: insights from somatic cell genetics using DT40 cell line. Mutat Res. 2009;668:92-102.
30. Raschle M, Knipscheer P, Enoiu M, Angelov T, Sun J, Griffith JD, Ellenberger TE, Scharer OD, Walter JC. Mechanism of replication-coupled DNA interstrand crosslink repair. Cell. 2008;134:969-80.
31. Minko IG, Harbut MB, Kozekov ID, Kozekova A, Jakobs PM, Olson SB, Moses RE, Harris TM, Rizzo CJ, Lloyd RS. Role for DNA polymerase kappa in the processing of N2-N2-guanine interstrand cross-links. J Biol Chem. 2008;283:17075-82.
32. Knipscheer P, Raschle M, Smogorzewska A, Enoiu M, Ho TV, Scharer OD, Elledge SJ, Walter JC. The Fanconi anemia pathway promotes replication-dependent DNA interstrand cross-link repair. Science. 2009;326:1698-701.
33. Liu T, Ghosal G, Yuan J, Chen J, Huang J. FAN1 acts with FANCI-FANCD2 to promote DNA interstrand cross-link repair. Science. 2010;329:693-6.
34. Smogorzewska A, Desetty R, Saito TT, Schlabach M, Lach FP, Sowa ME, Clark AB, Kunkel TA, Harper JW, Colaiacovo MP, Elledge SJ. A genetic screen identifies FAN1 a Fanconi anemiaassociated nuclease necessary for DNA interstrand crosslink repair. Mol Cell. 2010;39:36-47.
35. Kratz K, Schopf B, Kaden S, Sendoel A, Eberhard R, Lademann C, Cannavo E, Sartori AA, Hengartner MO, Jiricny J. Deficiency of FANCD2-associated nuclease KIAA1018/FAN1 sensitizes cells to interstrand crosslinking agents. Cell. 2010;142:77-88.
36. MacKay C, Declais AC, Lundin C, Agostinho A, Deans AJ, MacArtney TJ, Hofmann K, Gartner A, West SC, Helleday T, Lilley DM, Rouse J. Identification of KIAA1018/FAN1, a DNA repair nuclease recruited to DNA damage by monoubiquitinated FANCD2. Cell. 2010;142:65-76.
37. Pace P, Mosedale G, Hodskinson MR, Rosado IV, Sivasubramaniam M, Patel KJ. Ku70 corrupts DNA repair in the absence of the Fanconi anemia pathway. Science. 2010;329:219-23.
38. Ishiai M, Kitao H, Smogorzewska A, Tomida J, Kinomura A, Uchida E, Saberi A, Kinoshita E, Kinoshita-Kikuta E, Koike T, Tashiro S, Elledge SJ, Takata M. FANCI phosphorylation functions as a molecular switch to turn on the Fanconi anemia pathway. Nat Struct Mol Biol. 2008;15:1138-46.
39. Andreassen PR, D'Andrea AD, Taniguchi T. ATR couples FANCD2 monoubiquitination to the DNA-damage response. Genes Dev. 2004;18:1958-63. (Pubitemid 39071576)
40. Wang LC, Stone S, Hoatlin ME, Gautier J. Fanconi anemia proteins stabilize replication forks. DNA Repair (Amst). 2008;7:1973-81.
41. Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER 3rd, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ. ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. Science. 2007;316:1160-6. (Pubitemid 46877472)
42. Ho GP, Margossian S, Taniguchi T, D'Andrea AD. Phosphorylation of FANCD2 on two novel sites is required for mitomycin C resistance. Mol Cell Biol. 2006;26:7005-15. (Pubitemid 44387648)
43. Pichierri P, Rosselli F. Fanconi anemia proteins, the s phase checkpoint. Cell Cycle. 2004;3:698-700. (Pubitemid 40187891)
44. Huang M, Kim JM, Shiotani B, Yang K, Zou L, D'Andrea AD. The FANCM/FAAP24 complex is required for the DNA interstrand crosslink-induced checkpoint response. Mol Cell. 2010;39:259-68.
45. Gong Z, Kim JE, Leung CC, Glover JN, Chen J. BACH1/FANCJ acts with TopBP1 and participates early in DNA replication checkpoint control. Mol Cell. 2010;37:438-46.
46. Nussenzweig A, Nussenzweig MC. Origin of chromosomal translocations in lymphoid cancer. Cell. 2010;141:27-38.
47. Mirchandani KD, D'Andrea AD. The Fanconi anemia/BRCA pathway: a coordinator of cross-link repair. Exp Cell Res. 2006;312:2647-53. (Pubitemid 44162921)
48. Bunting SF, Nussenzweig A. Dangerous liaisons: Fanconi anemia and toxic nonhomologous end joining in DNA crosslink repair. Mol Cell. 2010;39:164-6.
49. Adamo A, Collis SJ, Adelman CA, Silva N, Horejsi Z, Ward JD, Martinez-Perez E, Boulton SJ, La Volpe A. Preventing nonhomologous end joining suppresses DNA repair defects of Fanconi anemia. Mol Cell. 2010;39:25-35.
50. 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;14:3027-33. (Pubitemid 41535468)