| Structural highlights
Disease
[FACD2_HUMAN] Fanconi anemia. The disease is caused by mutations affecting the gene represented in this entry.
Function
[FACD2_HUMAN] Required for maintenance of chromosomal stability. Promotes accurate and efficient pairing of homologs during meiosis. Involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing. May participate in S phase and G2 phase checkpoint activation upon DNA damage. Plays a role in preventing breakage and loss of missegregating chromatin at the end of cell division, particularly after replication stress. Required for the targeting, or stabilization, of BLM to non-centromeric abnormal structures induced by replicative stress. Promotes BRCA2/FANCD1 loading onto damaged chromatin. May also be involved in B-cell immunoglobulin isotype switching.[1] [2] [3] [4] [5] [6] [7] [8] [9] [10] [11] [12] [13]
References
- ↑ Timmers C, Taniguchi T, Hejna J, Reifsteck C, Lucas L, Bruun D, Thayer M, Cox B, Olson S, D'Andrea AD, Moses R, Grompe M. Positional cloning of a novel Fanconi anemia gene, FANCD2. Mol Cell. 2001 Feb;7(2):241-8. PMID:11239453
- ↑ Garcia-Higuera I, Taniguchi T, Ganesan S, Meyn MS, Timmers C, Hejna J, Grompe M, D'Andrea AD. Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway. Mol Cell. 2001 Feb;7(2):249-62. PMID:11239454
- ↑ Taniguchi T, Garcia-Higuera I, Xu B, Andreassen PR, Gregory RC, Kim ST, Lane WS, Kastan MB, D'Andrea AD. Convergence of the fanconi anemia and ataxia telangiectasia signaling pathways. Cell. 2002 May 17;109(4):459-72. PMID:12086603
- ↑ 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 Oct 1;100(7):2414-20. doi: 10.1182/blood-2002-01-0278. PMID:12239151 doi:https://dx.doi.org/10.1182/blood-2002-01-0278
- ↑ Holzel M, van Diest PJ, Bier P, Wallisch M, Hoatlin ME, Joenje H, de Winter JP. FANCD2 protein is expressed in proliferating cells of human tissues that are cancer-prone in Fanconi anaemia. J Pathol. 2003 Oct;201(2):198-203. doi: 10.1002/path.1450. PMID:14517836 doi:https://dx.doi.org/10.1002/path.1450
- ↑ 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 Jun 15;13(12):1241-8. Epub 2004 Apr 28. PMID:15115758 doi:10.1093/hmg/ddh135
- ↑ Andreassen PR, D'Andrea AD, Taniguchi T. ATR couples FANCD2 monoubiquitination to the DNA-damage response. Genes Dev. 2004 Aug 15;18(16):1958-63. PMID:15314022 doi:https://dx.doi.org/10.1101/gad.1196104
- ↑ Freie BW, Ciccone SL, Li X, Plett PA, Orschell CM, Srour EF, Hanenberg H, Schindler D, Lee SH, Clapp DW. A role for the Fanconi anemia C protein in maintaining the DNA damage-induced G2 checkpoint. J Biol Chem. 2004 Dec 3;279(49):50986-93. doi: 10.1074/jbc.M407160200. Epub 2004 , Sep 17. PMID:15377654 doi:https://dx.doi.org/10.1074/jbc.M407160200
- ↑ Montes de Oca R, Andreassen PR, Margossian SP, Gregory RC, Taniguchi T, Wang X, Houghtaling S, Grompe M, D'Andrea AD. Regulated interaction of the Fanconi anemia protein, FANCD2, with chromatin. Blood. 2005 Feb 1;105(3):1003-9. doi: 10.1182/blood-2003-11-3997. Epub 2004 Sep, 28. PMID:15454491 doi:https://dx.doi.org/10.1182/blood-2003-11-3997
- ↑ Nakanishi K, Yang YG, Pierce AJ, Taniguchi T, Digweed M, D'Andrea AD, Wang ZQ, Jasin M. Human Fanconi anemia monoubiquitination pathway promotes homologous DNA repair. Proc Natl Acad Sci U S A. 2005 Jan 25;102(4):1110-5. Epub 2005 Jan 13. PMID:15650050 doi:https://dx.doi.org/0407796102
- ↑ 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 Mar 1;14(5):693-701. doi: 10.1093/hmg/ddi065. Epub 2005 Jan, 20. PMID:15661754 doi:https://dx.doi.org/10.1093/hmg/ddi065
- ↑ 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 Apr 15;280(15):14877-83. Epub 2005 Jan 25. PMID:15671039 doi:M414669200
- ↑ Naim V, Rosselli F. The FANC pathway and BLM collaborate during mitosis to prevent micro-nucleation and chromosome abnormalities. Nat Cell Biol. 2009 Jun;11(6):761-8. doi: 10.1038/ncb1883. Epub 2009 May 24. PMID:19465921 doi:https://dx.doi.org/10.1038/ncb1883
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