A patient-derived mutant form of the Fanconi anemia protein, FANCA, is defective in nuclear accumulation

Experimental Hematology

Volumn 27, Issue 4, 1999, Pages 587-593

  Kupfer, Gary ^a   Naf, Dieter ^a   Garcia Higuera, Irene ^a   Wasik, Jennifer ^a   Cheng, Andrew ^a   Yamashita, Takayuki ^b   Tipping, Alex ^c   Morgan, Neil ^c   Mathew, Christopher G ^c   D'Andrea, Alan D ^a  

^a DANA FARBER CANCER INSTITUTE   (United States)

^b UNIVERSITY OF TOKYO   (Japan)

^c KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

Cancer susceptibility; Fanconi anemia; Leukemia; Mitomycin C

Indexed keywords

CELL PROTEIN; FANCONI ANEMIA PROTEIN; MITOMYCIN C; UNCLASSIFIED DRUG;

ARTICLE; CANCER SUSCEPTIBILITY; EPSTEIN BARR VIRUS; FANCONI ANEMIA; GENETIC COMPLEMENTATION; GENOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN BINDING; PROTEIN DEFECT; PROTEIN PHOSPHORYLATION;

AMINO ACID SUBSTITUTION; CELL CYCLE PROTEINS; CELL LINE; CELL NUCLEUS; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FANCONI ANEMIA; FANCONI ANEMIA COMPLEMENTATION GROUP C PROTEIN; FANCONI ANEMIA COMPLEMENTATION GROUP PROTEINS; GENE EXPRESSION; GENETIC COMPLEMENTATION TEST; HUMANS; IMMUNOBLOTTING; LYMPHOCYTES; NUCLEAR PROTEINS; PHOSPHORYLATION; POINT MUTATION; PROTEIN BIOSYNTHESIS; PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TRANSFECTION;

HUMAN HERPESVIRUS 4;

EID: 0032961359     PISSN: 0301472X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0301-472X(99)00022-3     Document Type: Article

References (37)

1. D'Andrea A.D., Grompe M. Molecular biology of Fanconi anemia. implications for diagnosis and therapy Blood. 90:1997;1725.
2. Liu J., Buchwald M., Walsh C.E., Young N.S. Fanconi anemia and novel strategies for therapy. Blood. 84:1994;3995.
3. Auerbach A., Buchwald M., Joenje H. Fanconi anemia. Vogelstein B., Kinzler K.W. Genetics of cancer. 1997;McGraw Hill, New York.
4. Strathdee C.A., Duncan A.M.V., Buchwald M. Evidence for at least four Fanconi Anemia genes including FACC on chromosome 9. Nat Genet. 1:1992;196.
5. Joenje H., Ten F.L., Oostra A., Berkel C.V., Rooimans M., Schroeder S., Kurth T., Wegner R., Gille J., Buchwald M., Arwert F. Classification of Fanconi anemia patients by complementation analysis. evidence for a fifth genetic subtype Blood. 86:1995;2156.
6. Joenje H., Oostra A.B., Wijker M., di Summa F.M., van Berkel C.G.M., Rooimans M.A., Ebell W., van Weel M., Pronk J.C., Buchwald M., Arwert F. Evidence for at least eight Fanconi anemia genes. Am J Hum Genet. 61:1997;940.
7. Strathdee C.A., Gavish H., Shannon W.R., Buchwald M. Cloning of cDNAs for Fanconi's anaemia by functional complementation. Nature. 356:1992;763.
8. Lo Ten Foe J.R., Rooimans M.A., Bosnoyan-Collins L., Alon N., Wijker M., Parker L., Lightfoot J., Carreau M., Callen D.F., Savoia A.et al. Expression cloning of a cDNA for the major Fanconi anemia gene, FAA. Nat Genet. 14:1996;320.
9. The Fanconi Anemia/Breast Cancer Consortium (1996) Positional cloning of the Fanconi anaemia group A gene. Nat Genet 14:324.
10. de Winter J.P., Waisfisz Q., Rooimans M.A., van Berkel C.G.M., Bosnoyan-Collins L., Alon N., Carreau M., Bender O., Demuth I., Schindler D.et al. The Fanconi anaemia group G gene is identical with human XRCC9. Nat Genet. 20:1998;281.
11. Buchwald M. Complementation groups. one or more per gene Nat Genet. 11:1995;228.
12. Liu N., Lamerdin J.E., Tucker J.D., Zhou Z.-Q., Walter C.A., Albala J.S., Busch D.B., Thompson L.H. The human XRCC9 gene corrects chromosomal instability and mutagen sensitivities in CHO UV40 cells. Proc Natl Acad Sci U S A. 94:1997;9232.
13. Kupfer G.M., Naf D., Suliman A., Pulsipher M., D'Andrea A.D. The Fanconi anemia proteins, FAA and FAC, interact to form a nuclear complex. Nat Genet. 17:1997;487.
14. Naf D., Kupfer G.M., Suliman A., Lambert K., D'Andrea A.D. Functional activity of the fanconi anemia protein, FAA, requires FAC binding and nuclear localization. Mol Cell Biol. 18:1998;5952.
15. Yamashita T., Kupfer G.M., Naf D., Suliman A., Joenje H., Asano S., D'Andrea A.D. The Fanconi anemia pathway requires FAA phosphorylation and FAA/FAC nuclear accumulation. Proc Natl Acad Sci U S A. 95:1998;13085.
16. Kaiser T.N., Lojewski A., Dougherty C., Juergens L., Sahar E., Latt S.A. Flow cytometric characterization of the response of Fanconi's anemia cells to mitomycin C treatment. Cytometry. 2:1982;291.
17. Kubbies M., Schindler D., Hoehn H., Schinzel A., Rabinovich P.S. Endogenous blockage and delay of the chromosome cycle despite normal recruitment and growth phase explain poor proliferation and frequent edomitosis in Fanconi anemia cells. Am J Hum Genet. 37:1985;1022.
18. Kupfer G., Yamashita T., Naf D., Suliman A., Asano S., D'Andrea A.D. The Fanconi anemia protein, FAC, binds to the cyclin-dependent kinase, cdc2. Blood. 90:1997;1047.
19. Rathbun R., Faulkner G., Ostroski M., Christianson T., Hughes G., Jones G., Cahn R., Maziarz R., Royle G., Keeble W.et al. Inactivation of the Fanconi anemia group C gene augments interferon-gamma induced apoptotic responses in hematopoietic cells. Blood. 90:1997;974.
20. Whitney M.A., Royle G., Low M.J., Kelly M.A., Axthelm M.K., Reifsteck C., Olson S., Braun R.E., Heinrich M.C., Rathbun R.K., Bagby G.C., Grompe M. Germ cell defects and hematopoietic hypersensitivity to gamma-interferon in mice with a targeted disruption of the Fanconi anemia C gene. Blood. 88:1996;49.
21. Cumming R.C., Liu J.M., Youssoufian H., Buchwald M. Suppression of apoptosis in hematopoietic factor-dependent progenitor cell lines by expression of the FAC gene. Blood. 88:1996;4558.
22. Marathi U.K., Howell S.R., Ashmun R.A., Brent T.P. The Fanconi anemia complementation group C protein corrects DNA interstrand cross-link-specific apoptosis in HSC536N cells. Blood. 88:1996;2298.
23. 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. 57:1997;1722.
24. Chen M., Tomkins D.J., Auerbach W., McKerlie C., Youssoufian H., Liu L., Gan O., Carreau M., Auerbach A., Groves T.et al. Inactivation of Fac in mice produces inducible chromosomal instability and reduced fertility reminiscent of Fanconi anaemia. Nat Genet. 12:1996;448.
25. Kruyt F.A.E., Waisfisz Q., Dijkmans L.M., Hermsen M.A.J.A., Youssoufian H., Arwert F., Joenje H. Cytoplasmic localization of a functionally active Fanconi anemia group A-green fluorescent protein chimera in human 293 cells. Blood. 90:1997;3288.
26. Levran O., Erlich T., Magdalena N., Gregory J.J., Batish S.D., Verlander P.C., Auerbach A.D. Sequence variation in the Fanconi anemia gene FAA. Proc Natl Acad Sci U S A. 94:1997;13051.
27. Wijker M., Morgan N.V., Herterich S., van Berkel C.G.M., Tipping A.J., Gross H.J., Gille J.J.P., Pals G., Savino M., Altay C.et al. Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene. Eur J Hum Genet. in press:1999.
28. Savino M., Ianzano L., Strippoli P., Ramenghi U., Arslanian A., Bagnara G.P., Joenje H., Zelante L., Savoia A. Mutations of the Fanconi anemia group A (FAA) gene in Italian patients. Am J Hum Genet. 61:1997;1246.
29. Ianzano L., D'Apolito M., Centra M., Savino M., Levran O., Auerbach A.D., Cleton-Jansen A.-M., Doggett N.A., Pronk J.C., Tipping A.J.et al. The genomic organization of the Fanconi anemia group A (FAA) gene. Genomics. 41:1997;309.
30. Ory D., Neugeboren B., Mulligan R. A stable human-derived packaging cell line for production of high-titer retrovirus/vesicular stomatitis virus G pseudotypes. Proc Natl Acad Sci U S A. 93:1996;11400.
31. Yamashita T., Barber D.L., Zhu Y., Wu N., D'Andrea A.D. The Fanconi anemia polypeptide FACC is localized to the cytoplasm. Proc Natl Acad Sci U S A. 91:1994;6712.
32. Pulsipher M., Kupfer G.M., Naf D., Suliman A., Lee J.-S., Jakobs P., Grompe M., Joenje H., Sieff C., Guinan E., Mulligan R., D'Andrea A.D. Subtyping analysis of Fanconi anemia by immunoblotting and retroviral gene transfer. Mol Med. 4:1998;468.
33. de la Luna S (1998) Methods Enzymol 216:376.
34. Auerbach A.D. Fanconi anemia diagnosis and the diepoxybutane (DEB) test. Exp Hemat. 21:1993;731.
35. Kruyt F.A.E., Youssoufian H. The Fanconi anemia proteins FAA and FAC function in different cellular compartments to protect against cross-linking agent cytotoxicity. Blood. 92:1998;2229.
36. Youssoufian H. Localization of Fanconi anemia C protein to the cytoplasm of mammalian cells. Proc Natl Acad Sci U S A. 91:1994;7975.
37. Hoshino T., Wang J., Devetten M.P., Iwata N., Kajigaya S., Wise R.J., Liu J.M., Youssoufian H. Molecular chaperone GRP94 binds to the Fanconi anemia group C protein and regulates its intracellular expression. Blood. 91:1998;4379.