FANCD2

From Wikipedia, the free encyclopedia

Fanconi anemia, complementation group D2

Identifiers

FANCD2; FACD; FAD; FANCD; DKFZp762A223; FA-D2; FA4; FAD2; FLJ23826

External IDs

OMIM: 227646 MGI: 2448480 HomoloGene: 13212

Gene ontology
Molecular Function:	• molecular_function • protein binding
Cellular Component:	• condensed chromosome • cellular_component • nucleus
Biological Process:	• DNA repair • cell cycle • biological_process

Orthologs

Human

Mouse

Refseq

NM_001018115 (mRNA)
NP_001018125 (protein)

NM_001033244 (mRNA)
NP_001028416 (protein)

Location

Chr 3: 10.04 - 10.12 Mb

Chr 6: 113.5 - 113.56 Mb

Pubmed search

[1]

[2]

Fanconi anemia, complementation group D2, also known as FANCD2, is a human gene.^[1]

The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, and FANCL. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquitinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in two transcript variants encoding different isoforms.^[1]

A team has shown an in-vitro demonstration of how tobacco smoke suppresses the expression of FANCD2, which codes for a DNA damage "caretaker" or repair mechanism. ^[2]

[edit] References

^ ^a ^b Entrez Gene: FANCD2 Fanconi anemia, complementation group D2.
^ Hays Laura, et al. (2008-05-12). "Cigarette smoke induces genetic instability in airway epithelial cells by suppressing FANCD2 expression". British Journal of Cancer. cited in "OHSU Cancer Institute researchers pinpoint how smoking causes cancer", Eurekalert, 2008-05-13.

[edit] Further reading

Whitney M, Thayer M, Reifsteck C, et al. (1995). "Microcell mediated chromosome transfer maps the Fanconi anaemia group D gene to chromosome 3p.". Nat. Genet. 11 (3): 341–343. doi:10.1038/ng1195-341. PMID 7581463.
Hejna JA, Timmers CD, Reifsteck C, et al. (2000). "Localization of the Fanconi anemia complementation group D gene to a 200-kb region on chromosome 3p25.3.". Am. J. Hum. Genet. 66 (5): 1540–1551. PMID 10762542.
Timmers C, Taniguchi T, Hejna J, et al. (2001). "Positional cloning of a novel Fanconi anemia gene, FANCD2.". Mol. Cell 7 (2): 241–248. PMID 11239453.
Garcia-Higuera I, Taniguchi T, Ganesan S, et al. (2001). "Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway.". Mol. Cell 7 (2): 249–262. PMID 11239454.
Futaki M, Liu JM (2002). "Chromosomal breakage syndromes and the BRCA1 genome surveillance complex.". Trends in molecular medicine 7 (12): 560–565. PMID 11733219.
Wilson JB, Johnson MA, Stuckert AP, et al. (2002). "The Chinese hamster FANCG/XRCC9 mutant NM3 fails to express the monoubiquitinated form of the FANCD2 protein, is hypersensitive to a range of DNA damaging agents and exhibits a normal level of spontaneous sister chromatid exchange.". Carcinogenesis 22 (12): 1939–1946. PMID 11751423.
Grompe M (2002). "FANCD2: a branch-point in DNA damage response?". Nat. Med. 8 (6): 555–556. doi:10.1038/nm0602-555. PMID 12042798.
Taniguchi T, Garcia-Higuera I, Xu B, et al. (2002). "Convergence of the fanconi anemia and ataxia telangiectasia signaling pathways.". Cell 109 (4): 459–472. PMID 12086603.
Pace P, Johnson M, Tan WM, et al. (2002). "FANCE: the link between Fanconi anaemia complex assembly and activity.". EMBO J. 21 (13): 3414–3423. doi:10.1093/emboj/cdf355. PMID 12093742.
Taniguchi T, Garcia-Higuera I, Andreassen PR, et al. (2002). "S-phase-specific interaction of the Fanconi anemia protein, FANCD2, with BRCA1 and RAD51.". Blood 100 (7): 2414–2420. doi:10.1182/blood-2002-01-0278. PMID 12239151.
Tamary H, Bar-Yam R, Zemach M, et al. (2002). "The molecular biology of Fanconi anemia.". Isr. Med. Assoc. J. 4 (10): 819–823. PMID 12389351.
Nakanishi K, Taniguchi T, Ranganathan V, et al. (2003). "Interaction of FANCD2 and NBS1 in the DNA damage response.". Nat. Cell Biol. 4 (12): 913–920. doi:10.1038/ncb879. PMID 12447395.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–16903. doi:10.1073/pnas.242603899. PMID 12477932.
Goldberg M, Stucki M, Falck J, et al. (2003). "MDC1 is required for the intra-S-phase DNA damage checkpoint.". Nature 421 (6926): 952–956. doi:10.1038/nature01445. PMID 12607003.
Stewart GS, Wang B, Bignell CR, et al. (2003). "MDC1 is a mediator of the mammalian DNA damage checkpoint.". Nature 421 (6926): 961–966. doi:10.1038/nature01446. PMID 12607005.
Gordon SM, Buchwald M (2003). "Fanconi anemia protein complex: mapping protein interactions in the yeast 2- and 3-hybrid systems.". Blood 102 (1): 136–141. doi:10.1182/blood-2002-11-3517. PMID 12649160.
Jin S, Mao H, Schnepp RW, et al. (2003). "Menin associates with FANCD2, a protein involved in repair of DNA damage.". Cancer Res. 63 (14): 4204–4210. PMID 12874027.
Vandenberg CJ, Gergely F, Ong CY, et al. (2003). "BRCA1-independent ubiquitination of FANCD2.". Mol. Cell 12 (1): 247–254. PMID 12887909.
Meetei AR, de Winter JP, Medhurst AL, et al. (2003). "A novel ubiquitin ligase is deficient in Fanconi anemia.". Nat. Genet. 35 (2): 165–170. doi:10.1038/ng1241. PMID 12973351.
Reuter TY, Medhurst AL, Waisfisz Q, et al. (2003). "Yeast two-hybrid screens imply involvement of Fanconi anemia proteins in transcription regulation, cell signaling, oxidative metabolism, and cellular transport.". Exp. Cell Res. 289 (2): 211–221. PMID 14499622.
Wang X, Kennedy RD, Ray K, Stuckert P, Ellenberger T, D'Andrea AD (2007 April). "Chk1-Mediated Phosphorylation of FANCE Is Required for the Fanconi Anemia/BRCA Pathway". Mol Cell Biol 27 (8): 3098–3108. doi:10.1128/MCB.02357-06.. PMID 17296736.