The Fanconi anemia genes

Current Opinion in Pediatrics

Volumn 10, Issue 1, 1998, Pages 65-69

  Carreau, Madeleine ^a   Buchwald, Manuel ^b  

^a HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT;

ANIMAL MODEL; FANCONI ANEMIA; GENETIC COMPLEMENTATION; HUMAN; MOLECULAR CLONING; MOUSE; NONHUMAN; PRIORITY JOURNAL; REVIEW;

ANIMALS; APOPTOSIS; CELL CYCLE; CELL CYCLE PROTEINS; CLONING, MOLECULAR; DISEASE MODELS, ANIMAL; DNA REPAIR; DNA-BINDING PROTEINS; FANCONI ANEMIA; FANCONI ANEMIA COMPLEMENTATION GROUP PROTEINS; HUMANS; NUCLEAR PROTEINS; OXYGEN; PROTEINS;

EID: 0031922755     PISSN: 10408703     EISSN: None     Source Type: Journal    
DOI: 10.1097/00008480-199802000-00013     Document Type: Review

References (40)

1. D'Andréa A, Grompe M: Molecular biology of Fanconi anemia: implications for diagnosis and therapy. Blood 1997, 90:1725-1736. Recent review depicting in details the clinical phenotype as well as the molecular basis of FA.
2. Buchwald M, Joenje H, Auerbach A: Fanconi anemia. In Scriver C, Beaudet A, Sly W, Valle D (eds) : The metabolic and molecular bases of inherited disease, vol. CD-ROM. New York, McGraw-Hill, 1997. CD-ROM version of a broad description of FA, including the clinical and cellular phenotypes, the diagnostic criteria and the molecular aspects of the disease and its treatment.
3. Joenje H, Oostra A, Wijker M, di Summa F, van Berkel C, Rooimans M, Ebell W, van Weel M, Pronk J, Buchwald M, Artwert F: Evidence for at least eight Fanconi anemia genes. Am J Hum Genet 1997, 61:940-944. Description of three new complementation groups in FA.
4. Gillio AP, Verlander PC, Batish SD, Giampietro PF, Auerbach AD: Phenotypic consequences of mutations in the Fanconi anemia FAC gene: an international Fanconi anemia registry study. Blood 1997, 90:105-110. Interesting correlation between the phenotype observed in patients and the location of the mutation in the FAC gene.
5. Strathdee CA, Gavish H, Shannon WR, Buchwald M: Cloning of cDNAs for Fanconi's anaemia by functional complementation. Nature 1992, 358:763-767.
6. Lo Ten Foe JR, Rooimans MA, Bosnoyan-Collins L, Alon N, Wijker M, Parker L, Lightfoot J, Carreau M, Callen DF, Savoia A, et al.: Expression cloning of a cDNA for the major Fanconi anemia gene, FAA. Nature Genet 1996, 14:320-323.
7. The Fanconi, Anaemia, Breast Cancer Consortium: Positional cloning of the Fanconi anaemia group A gene. Nature Gener 1996, 14:324-328.
8. Yamashita T, Barber DL, Zhu Y, Wu N, D'Andrea AD: The Fanconi anemia polypeptide FACC is localized to the cytoplasm. Proc Natl Acad Sci U S A 1994, 91:6712-6716.
9. Youssoufian H: Localization of Fanconi anemia C protein to the cytoplasm of mammalian cells. Proc Natl Acad Sci U S A 1994, 91:7975-7979.
10. Youssoufian H, Auerbach AD, Verlander PC, Steimle V, Mach B: Identification of cytosolic proteins that bind to the Fanconi anemia complementation group C polypeptide in vitro: evidence for a multimeric complex. J Biol Chem 1995, 270:9876-9882.
11. Yamashita T, Wu N, Kupfer G, Corless C, Joenje H, Grompe M, D'Andrea AD: Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity. Blood 1996, 87:4424-4432.
12. Youssoufian H, Li Y, Martin ME, Buchwald M: Induction of Fanconi anemia cellular phenotype in human 293 cells by overexpression of a mutant FAC allele. J Clin Invest 1996, 97:957-962.
13. Liebetrau W, Budde A, Savoia A, Grummt F, Hoehn H: P53 activates Fanconi anemia group C gene expression. Hum Mol Genet 1997, 6:277-283.
14. Pronk JC, Gibson RA, Savoia A, Wijker M, Morgan NV, Melchionda S, Ford D, Temtamy S, Ortega JJ, Jansen S, et al.: Localisation of the Fanconi anaemia complementation group A gene to chromosome 16q24.3. Nature Genet 1995, 11:338-340.
15. Ianzano L, D'Apolito M, Centra M, Savino M, Levran O, Auerbach A, Cleton-Jansen A, Doggett N, Pronk J, Tipping A, et al.: The genomic organization of the Fanconi anemia group (FAA) gene. Genomics 1997, 41:309-314.
16. Savoia A, Piemontese M, Savino M, Zatterate A, Pronk J, Arwert F, Joenje H, Ramenghi U, Dagna-Bricarelli F, Dallapiccola B, Zelante L: Linkage analysis of Fanconi anaemia in Italy and mapping of the complementation group A gene. Hum Genet 1997, 99:93-97.
17. Wevrick R, Clarke CA, Buchwald M: Cloning and analysis of the murine Fanconi anemia group C cDNA. Hum Mol Genet 1993, 2:655-662.
18. Wong JCY, Buchwald M: Cloning of the bovine and rat Fanconi anemia group C cDNA. Mamm Genome 1997, 8:522-525.
19. Whitney M, Thayer M, Reifsteck C, Olson S, Smith L, Jakobs PM, Leach R, Naylor S, Joenje H, Grompe M: Microcell mediated chromosome transfer maps the Fanconi anaemia group D gene to chromosome 3p. Nature Genet 1995, 11:341-343.
20. Youssoufian H: Cytoplasmic localization of FAC is essential for the correction of a prerepair defect in Fanconi anemia group. J Clin Invest 1996, 97:2003-2010.
21. Hang B, Yeung AT, Lambert MW: A damage-recognition protein which binds to DNA containing interstrand cross-links is absent or defective In Fanconi anemia, complementation group A, cells. Nucl Acid Res 1993, 21:4187-4192.
22. Lambert M, Tsongalis G, Lambert W, Parrish D: Correction of the DNA repair defect in Fanconi anemia complementation groups A and D cells. Biochem Biophys Res Cummun 1997, 230:587-591.
23. Kupfer GM, Yamashita T, Naf D, Suliman A, Asano S, D'Andrea AD: The Fanconi anemia polypeptide, FAC, binds to the cyclin-dependent kinase, cdc2. Blood 1997, 90:1047-1054. In this study, the FAC protein is shown to bind to the cdc2 protein involved in cell-cycle regulation. Binding to fac occurs through the carboxyl-terminus portion of the protein and mutations in that region seem to interfere with the binding. This may explain the cell cycle defect found in FA cells.
24. Kruyt FA, Dijkmans LM, van den Berg TK, Joenje H: Fanconi anemia genes act to suppress a cross-linker-inducible p53-independent apoptosis pathway in lymphoblastoid cell lines. Blood 1996, 87:938-948.
25. Monti D, Macchioni S, Guido M, Pagano G, Zatterale A, Calzone R, Cossarizza A, Straface E, Malorni W, Franceschi C: Resistance to apoptosis in Fanconi's anaemia: an ex vivo study in peripheral blood mononuclear cells. FEBS Lett 1997, 409:365-369.
26. Cumming RC, Liu JM, Youssoufian H, Buchwald M: Suppression of apoptosis in hematopoietic factor-dependent progenitor cell lines by expression of the FAC gene. Blood 1996, 88:4558-4567.
27. Ridet A, Guillouf C, Duchaud E, Cundari E, Fiore M, Moustacchi E, Rosselli F: Deregulated apoptosis is a hallmark of the Fanconi anemia syndrome. Cancer Res 1997, 57:1722-1730.
28. Rathbun RK, Faulkner GR, Ostroski MH, Christianson TA, Hughes G, Jones G, Cahn R, Maziarz R, Royle G, Keeble W, et al.: Inactivation of the Fanconi anemia group C gene augments interferon-induced apoptotic responses in hematopoietic cells. Blood 1997, 90:974-985.
29. Marathi UK, Howell SR, Ashmun RA, Brent TP: The Fanconi anemia complementation group C protein corrects DNA interstrand cross-link-specific apoptosis in HSC536N cells. Blood 1996, 88:2298-2305.
30. Pagano G, Korkina L, Degan P, Del Principe D, Lindau-Shepard B, Zatterale A, Franceschi C: In vitro hypersensitivity to oxygen of Fanconi anemia (FA) cells is linked to ex vivo evidence for oxidative stress in FA homozygotes and heterozygotes. Blood 1997, 89:1111-1112. This short comment clearly describes the different studies on oxygen metabolism in FA and the controversy surrounding the notion that abnormal oxygen metabolism is at the basis of the FA phenotype.
31. Clark A, Philpott N, Gordon-Smith E, Rutherford T: The sensitivity of Fanconi anaemia group C cells to apoptosis induced by mitomycin C is due to oxygen radical generation, not DNA crosslinking. Br J Haematol 1997, 96:240-247.
32. Takeuchi T, Morimoto K: Increased formation of 8-hydroxydeoxyguanosine, an oxidative DNA damage, in 1 lymphoblasts from Fanconi's anemia patients due to possible catalase deficiency. Carcinogenesis 1993, 14:1115-1120.
33. Joenje H, Youssoufian H, Kruyt FA, dos Santos CC, Wevrick R, Buchwald M: Expression of the Fanconi anemia gene FAC in human cell lines: lack of effect of oxygen tension. Blood Cells Mol Diseases 1995, 21:182-191.
34. Ruppitsch W, Meisslitzer C, Weirich-Schwaiger H, Klocker H, Scheidereit C, Schweiger M, Hirsh-Kauffmann M: The role of oxygen metabolism for the pathological phenotype of Fanconi anemia. Hum Genet 1997, 99:710-719.
35. Whitney MA, Royle G, Low MJ, Kelly MA, Axthelm MK, Reifsteck C, Olson S, Braun RE, Heinrich MC, Rathbun RK, et al.: Germ cell defects and hematopoietic hypersensitivity to gamma-interferon in mice with a targeted disruption of the Fanconi anemia C gene. Blood 1996, 88:49-58.
36. Chen M, Tomkins DJ, Auerbach W, McKerlie C, Youssoufian H, Liu L, Gan O, Carreau M, Auerbach A, Groves J, et al.: Inactivation of fac in mice produces inducible chromosomal instability and reduced fertility reminiscent of Fanconi anemia. Nature Genet 1996, 12:448-451.
37. Carreau M, Gan Dl, Liu L, Doedens M, McKerlie C, Dick JE, Buchwald M: Bone marrow failure in the Fanconi anemia group C mouse model following DNA damage. Blood 1998, in press.
38. Gluckman E: Allogeneic bone marrow transplantation in Fanconi anemia. Bone Marrow Transplant 1996, 18:S33-S55.
39. Fricker J: Fanconi's anaemia, cord blood transplant and gene therapy. Mol Med Today 1996, 2:406-407.
40. Lo Ten Foe J, Kewee ML, R. Rooimans MA, Oostra AB, Veerman AJP, van Weel M, Pauli RM, Shahidi NT, Dokal I, Roberts I, et al.: Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance. Eur J Hum Genet 1997, 5:137-148.