The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Fanconi Anemia

Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of Fanconi Anemia


High impact information on Fanconi Anemia

  • The BRIP1 helicase functions independently of BRCA1 in the Fanconi anemia pathway for DNA crosslink repair [6].
  • Each protein in this complex is essential for monoubiquitination of FANCD2, a key reaction in the Fanconi anemia DNA damage-response pathway [7].
  • Nine genes involved in Fanconi anemia have been identified; their products participate in a DNA damage-response network involving BRCA1 and BRCA2 (refs. 2,3) [7].
  • The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia [8].
  • We previously purified a Fanconi anemia core complex containing the FANCL ubiquitin ligase and six other Fanconi anemia-associated proteins [7].

Chemical compound and disease context of Fanconi Anemia


Biological context of Fanconi Anemia

  • Moreover, in human cells exposed to mitomycin C, short interfering RNA-mediated knock-down of BRIP1 leads to a substantial increase in chromosome aberrations, a characteristic phenotype of cells derived from individuals with Fanconi anemia [6].
  • Our data suggest an evolutionary link between Fanconi anemia-associated proteins and DNA repair; FANCM may act as an engine that translocates the Fanconi anemia core complex along DNA [7].
  • Here we show that the protein defective in individuals with Fanconi anemia belonging to complementation group B is an essential component of the nuclear protein 'core complex' responsible for monoubiquitination of FANCD2, a key event in the DNA-damage response pathway associated with Fanconi anemia and BRCA [14].
  • Monoubiquitination of the FANCD2 protein is a key step in the Fanconi anemia (FA) tumor suppressor pathway, coinciding with this molecule's accumulation at sites of genome damage [15].
  • The fanconi anemia pathway requires FAA phosphorylation and FAA/FAC nuclear accumulation [16].

Anatomical context of Fanconi Anemia


Gene context of Fanconi Anemia


Analytical, diagnostic and therapeutic context of Fanconi Anemia


  1. Phenotypic correction of Fanconi anemia in human hematopoietic cells with a recombinant adeno-associated virus vector. Walsh, C.E., Nienhuis, A.W., Samulski, R.J., Brown, M.G., Miller, J.L., Young, N.S., Liu, J.M. J. Clin. Invest. (1994) [Pubmed]
  2. Chromatid damage after G2 phase x-irradiation of cells from cancer-prone individuals implicates deficiency in DNA repair. Parshad, R., Sanford, K.K., Jones, G.M. Proc. Natl. Acad. Sci. U.S.A. (1983) [Pubmed]
  3. Transfection of normal human and Chinese hamster DNA corrects diepoxybutane-induced chromosomal hypersensitivity of Fanconi anemia fibroblasts. Shaham, M., Adler, B., Ganguly, S., Chaganti, R.S. Proc. Natl. Acad. Sci. U.S.A. (1987) [Pubmed]
  4. Genetic disorders associated with cancer predisposition and genomic instability. Vessey, C.J., Norbury, C.J., Hickson, I.D. Prog. Nucleic Acid Res. Mol. Biol. (1999) [Pubmed]
  5. Constitutive elevation of serum alpha-fetoprotein in Fanconi anemia. Cassinat, B., Guardiola, P., Chevret, S., Schlageter, M.H., Toubert, M.E., Rain, J.D., Gluckman, E. Blood (2000) [Pubmed]
  6. The BRIP1 helicase functions independently of BRCA1 in the Fanconi anemia pathway for DNA crosslink repair. Bridge, W.L., Vandenberg, C.J., Franklin, R.J., Hiom, K. Nat. Genet. (2005) [Pubmed]
  7. A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M. Meetei, A.R., Medhurst, A.L., Ling, C., Xue, Y., Singh, T.R., Bier, P., Steltenpool, J., Stone, S., Dokal, I., Mathew, C.G., Hoatlin, M., Joenje, H., de Winter, J.P., Wang, W. Nat. Genet. (2005) [Pubmed]
  8. The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. Levran, O., Attwooll, C., Henry, R.T., Milton, K.L., Neveling, K., Rio, P., Batish, S.D., Kalb, R., Velleuer, E., Barral, S., Ott, J., Petrini, J., Schindler, D., Hanenberg, H., Auerbach, A.D. Nat. Genet. (2005) [Pubmed]
  9. Fanconi's anemia treated by allogeneic marrow transplantation. Deeg, H.J., Storb, R., Thomas, E.D., Appelbaum, F., Buckner, C.D., Clift, R.A., Doney, K., Johnson, L., Sanders, J.E., Stewart, P., Sullivan, K.M., Witherspoon, R.P. Blood (1983) [Pubmed]
  10. A cytoplasmic serine protein kinase binds and may regulate the Fanconi anemia protein FANCA. Yagasaki, H., Adachi, D., Oda, T., Garcia-Higuera, I., Tetteh, N., D'Andrea, A.D., Futaki, M., Asano, S., Yamashita, T. Blood (2001) [Pubmed]
  11. Malignancies after marrow transplantation for aplastic anemia and fanconi anemia: a joint Seattle and Paris analysis of results in 700 patients. Deeg, H.J., Socié, G., Schoch, G., Henry-Amar, M., Witherspoon, R.P., Devergie, A., Sullivan, K.M., Gluckman, E., Storb, R. Blood (1996) [Pubmed]
  12. A damage-recognition protein which binds to DNA containing interstrand cross-links is absent or defective in Fanconi anemia, complementation group A, cells. Hang, B., Yeung, A.T., Lambert, M.W. Nucleic Acids Res. (1993) [Pubmed]
  13. Cisplatin triggers apoptotic or nonapoptotic cell death in Fanconi anemia lymphoblasts in a concentration-dependent manner. Ferrer, M., Izeboud, T., Ferreira, C.G., Span, S.W., Giaccone, G., Kruyt, F.A. Exp. Cell Res. (2003) [Pubmed]
  14. X-linked inheritance of Fanconi anemia complementation group B. Meetei, A.R., Levitus, M., Xue, Y., Medhurst, A.L., Zwaan, M., Ling, C., Rooimans, M.A., Bier, P., Hoatlin, M., Pals, G., de Winter, J.P., Wang, W., Joenje, H. Nat. Genet. (2004) [Pubmed]
  15. BRCA1-independent ubiquitination of FANCD2. Vandenberg, C.J., Gergely, F., Ong, C.Y., Pace, P., Mallery, D.L., Hiom, K., Patel, K.J. Mol. Cell (2003) [Pubmed]
  16. The fanconi anemia pathway requires FAA phosphorylation and FAA/FAC nuclear accumulation. Yamashita, T., Kupfer, G.M., Naf, D., Suliman, A., Joenje, H., Asano, S., D'Andrea, A.D. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  17. A novel ubiquitin ligase is deficient in Fanconi anemia. Meetei, A.R., de Winter, J.P., Medhurst, A.L., Wallisch, M., Waisfisz, Q., van de Vrugt, H.J., Oostra, A.B., Yan, Z., Ling, C., Bishop, C.E., Hoatlin, M.E., Joenje, H., Wang, W. Nat. Genet. (2003) [Pubmed]
  18. Hematopoietic reconstitution in a patient with Fanconi's anemia by means of umbilical-cord blood from an HLA-identical sibling. Gluckman, E., Broxmeyer, H.A., Auerbach, A.D., Friedman, H.S., Douglas, G.W., Devergie, A., Esperou, H., Thierry, D., Socie, G., Lehn, P. N. Engl. J. Med. (1989) [Pubmed]
  19. Repression of Fanconi anemia gene (FACC) expression inhibits growth of hematopoietic progenitor cells. Segal, G.M., Magenis, R.E., Brown, M., Keeble, W., Smith, T.D., Heinrich, M.C., Bagby, G.C. J. Clin. Invest. (1994) [Pubmed]
  20. Preliminary communication: prenatal detection of the Fanconi Anemia gene by cytogenetic methods. Auerbach, A.D., Warburton, D., Bloom, A.D., Chaganti, R.S. Am. J. Hum. Genet. (1979) [Pubmed]
  21. Convergence of the fanconi anemia and ataxia telangiectasia signaling pathways. Taniguchi, T., Garcia-Higuera, I., Xu, B., Andreassen, P.R., Gregory, R.C., Kim, S.T., Lane, W.S., Kastan, M.B., D'Andrea, A.D. Cell (2002) [Pubmed]
  22. Functional relationships of FANCC to homologous recombination, translesion synthesis, and BLM. Hirano, S., Yamamoto, K., Ishiai, M., Yamazoe, M., Seki, M., Matsushita, N., Ohzeki, M., Yamashita, Y.M., Arakawa, H., Buerstedde, J.M., Enomoto, T., Takeda, S., Thompson, L.H., Takata, M. EMBO J. (2005) [Pubmed]
  23. A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and FANCA. Waisfisz, Q., de Winter, J.P., Kruyt, F.A., de Groot, J., van der Weel, L., Dijkmans, L.M., Zhi, Y., Arwert, F., Scheper, R.J., Youssoufian, H., Hoatlin, M.E., Joenje, H. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  24. BRCA1 interacts directly with the Fanconi anemia protein FANCA. Folias, A., Matkovic, M., Bruun, D., Reid, S., Hejna, J., Grompe, M., D'Andrea, A., Moses, R. Hum. Mol. Genet. (2002) [Pubmed]
  25. The Fanconi anemia protein, FANCE, promotes the nuclear accumulation of FANCC. Taniguchi, T., D'Andrea, A.D. Blood (2002) [Pubmed]
  26. Successful hematopoietic stem cell transplantation for Fanconi anemia from an unaffected HLA-genotype-identical sibling selected using preimplantation genetic diagnosis. Grewal, S.S., Kahn, J.P., MacMillan, M.L., Ramsay, N.K., Wagner, J.E. Blood (2004) [Pubmed]
  27. A simplified approach to improve the efficiency and safety of ex vivo hematopoietic gene therapy in fanconi anemia patients. Jacome, A., Navarro, S., Casado, J.A., Rio, P., Madero, L., Estella, J., Sevilla, J., Badell, I., Ortega, J.J., Olivé, T., Hanenberg, H., Segovia, J.C., Bueren, J.A. Hum. Gene Ther. (2006) [Pubmed]
  28. Tumor necrosis factor-alpha and CD95 ligation suppress erythropoiesis in Fanconi anemia C gene knockout mice. Otsuki, T., Nagakura, S., Wang, J., Bloom, M., Grompe, M., Liu, J.M. J. Cell. Physiol. (1999) [Pubmed]
  29. Phenotypic correction of primary Fanconi anemia T cells with retroviral vectors as a diagnostic tool. Hanenberg, H., Batish, S.D., Pollok, K.E., Vieten, L., Verlander, P.C., Leurs, C., Cooper, R.J., Göttsche, K., Haneline, L., Clapp, D.W., Lobitz, S., Williams, D.A., Auerbach, A.D. Exp. Hematol. (2002) [Pubmed]
  30. The hypermutability conferred by the mus308 mutation of Drosophila is not specific for cross-linking agents. Aguirrezabalaga, I., Sierra, L.M., Comendador, M.A. Mutat. Res. (1995) [Pubmed]
WikiGenes - Universities