FANCD2

Fanconi anemia, complementation group D2, also known as FANCD2, is a human gene.cite web | title = Entrez Gene: FANCD2 Fanconi anemia, complementation group D2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2177| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: FANCD2 Fanconi anemia, complementation group D2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2177| accessdate = ]

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. [cite journal
author=Hays Laura, et al.
title=Cigarette smoke induces genetic instability in airway epithelial cells by suppressing FANCD2 expression
journal=British Journal of Cancer
date=2008-05-12
pmid= cited in cite news
url=http://www.eurekalert.org/pub_releases/2008-05/ohs-oci051308.php
title=OHSU Cancer Institute researchers pinpoint how smoking causes cancer
publisher=Eurekalert
date=2008-05-13]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Whitney M, Thayer M, Reifsteck C, "et al." |title=Microcell mediated chromosome transfer maps the Fanconi anaemia group D gene to chromosome 3p. |journal=Nat. Genet. |volume=11 |issue= 3 |pages= 341–343 |year= 1995 |pmid= 7581463 |doi= 10.1038/ng1195-341
*cite journal | author=Hejna JA, Timmers CD, Reifsteck C, "et al." |title=Localization of the Fanconi anemia complementation group D gene to a 200-kb region on chromosome 3p25.3. |journal=Am. J. Hum. Genet. |volume=66 |issue= 5 |pages= 1540–1551 |year= 2000 |pmid= 10762542 |doi=
*cite journal | author=Timmers C, Taniguchi T, Hejna J, "et al." |title=Positional cloning of a novel Fanconi anemia gene, FANCD2. |journal=Mol. Cell |volume=7 |issue= 2 |pages= 241–248 |year= 2001 |pmid= 11239453 |doi=
*cite journal | author=Garcia-Higuera I, Taniguchi T, Ganesan S, "et al." |title=Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway. |journal=Mol. Cell |volume=7 |issue= 2 |pages= 249–262 |year= 2001 |pmid= 11239454 |doi=
*cite journal | author=Futaki M, Liu JM |title=Chromosomal breakage syndromes and the BRCA1 genome surveillance complex. |journal=Trends in molecular medicine |volume=7 |issue= 12 |pages= 560–565 |year= 2002 |pmid= 11733219 |doi=
*cite journal | author=Wilson JB, Johnson MA, Stuckert AP, "et al." |title=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. |journal=Carcinogenesis |volume=22 |issue= 12 |pages= 1939–1946 |year= 2002 |pmid= 11751423 |doi=
*cite journal | author=Grompe M |title=FANCD2: a branch-point in DNA damage response? |journal=Nat. Med. |volume=8 |issue= 6 |pages= 555–556 |year= 2002 |pmid= 12042798 |doi= 10.1038/nm0602-555
*cite journal | author=Taniguchi T, Garcia-Higuera I, Xu B, "et al." |title=Convergence of the fanconi anemia and ataxia telangiectasia signaling pathways. |journal=Cell |volume=109 |issue= 4 |pages= 459–472 |year= 2002 |pmid= 12086603 |doi=
*cite journal | author=Pace P, Johnson M, Tan WM, "et al." |title=FANCE: the link between Fanconi anaemia complex assembly and activity. |journal=EMBO J. |volume=21 |issue= 13 |pages= 3414–3423 |year= 2002 |pmid= 12093742 |doi= 10.1093/emboj/cdf355
*cite journal | author=Taniguchi T, Garcia-Higuera I, Andreassen PR, "et al." |title=S-phase-specific interaction of the Fanconi anemia protein, FANCD2, with BRCA1 and RAD51. |journal=Blood |volume=100 |issue= 7 |pages= 2414–2420 |year= 2002 |pmid= 12239151 |doi= 10.1182/blood-2002-01-0278
*cite journal | author=Tamary H, Bar-Yam R, Zemach M, "et al." |title=The molecular biology of Fanconi anemia. |journal=Isr. Med. Assoc. J. |volume=4 |issue= 10 |pages= 819–823 |year= 2002 |pmid= 12389351 |doi=
*cite journal | author=Nakanishi K, Taniguchi T, Ranganathan V, "et al." |title=Interaction of FANCD2 and NBS1 in the DNA damage response. |journal=Nat. Cell Biol. |volume=4 |issue= 12 |pages= 913–920 |year= 2003 |pmid= 12447395 |doi= 10.1038/ncb879
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–16903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Goldberg M, Stucki M, Falck J, "et al." |title=MDC1 is required for the intra-S-phase DNA damage checkpoint. |journal=Nature |volume=421 |issue= 6926 |pages= 952–956 |year= 2003 |pmid= 12607003 |doi= 10.1038/nature01445
*cite journal | author=Stewart GS, Wang B, Bignell CR, "et al." |title=MDC1 is a mediator of the mammalian DNA damage checkpoint. |journal=Nature |volume=421 |issue= 6926 |pages= 961–966 |year= 2003 |pmid= 12607005 |doi= 10.1038/nature01446
*cite journal | author=Gordon SM, Buchwald M |title=Fanconi anemia protein complex: mapping protein interactions in the yeast 2- and 3-hybrid systems. |journal=Blood |volume=102 |issue= 1 |pages= 136–141 |year= 2003 |pmid= 12649160 |doi= 10.1182/blood-2002-11-3517
*cite journal | author=Jin S, Mao H, Schnepp RW, "et al." |title=Menin associates with FANCD2, a protein involved in repair of DNA damage. |journal=Cancer Res. |volume=63 |issue= 14 |pages= 4204–4210 |year= 2003 |pmid= 12874027 |doi=
*cite journal | author=Vandenberg CJ, Gergely F, Ong CY, "et al." |title=BRCA1-independent ubiquitination of FANCD2. |journal=Mol. Cell |volume=12 |issue= 1 |pages= 247–254 |year= 2003 |pmid= 12887909 |doi=
*cite journal | author=Meetei AR, de Winter JP, Medhurst AL, "et al." |title=A novel ubiquitin ligase is deficient in Fanconi anemia. |journal=Nat. Genet. |volume=35 |issue= 2 |pages= 165–170 |year= 2003 |pmid= 12973351 |doi= 10.1038/ng1241
*cite journal | author=Reuter TY, Medhurst AL, Waisfisz Q, "et al." |title=Yeast two-hybrid screens imply involvement of Fanconi anemia proteins in transcription regulation, cell signaling, oxidative metabolism, and cellular transport. |journal=Exp. Cell Res. |volume=289 |issue= 2 |pages= 211–221 |year= 2003 |pmid= 14499622 |doi=
*cite journal | author=Wang X, Kennedy RD, Ray K, Stuckert P, Ellenberger T, D'Andrea AD | title=Chk1-Mediated Phosphorylation of FANCE Is Required for the Fanconi Anemia/BRCA Pathway | journal=Mol Cell Biol | date=2007 April | volume=27 | issue=8 | pages=3098–3108 | doi=10.1128/MCB.02357-06. | pmcid=1899922 | pmid=17296736

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