Expression cloning of a cdna for the major fanconi anaemia gene, FAA

Nature Genetics

Volumn 14, Issue 3, 1996, Pages 320-323

  Ten Foe, Jerome R Lo ^a   Rooimans, Martin A ^a   Bosnoyan Collins, Lucine ^b   Alon, Noa ^b   Wijker, Mario ^a   Parker, Linda ^b   Lightfoot, Jeff ^b   Carreau, Madeleine ^b   Callen, David F ^c   Savoia, Anna ^d   Cheng, Ngan C ^a   Van Berkel, Carola C M ^a   Strunk, Mark H P ^a   Gille, Johan J P ^a   Pals, Gerard ^a   Kruyt, Frank A E ^a   Pronk, Jan C ^a   Arwert, Fré ^a   Buchwald, Manuel ^b   Joenje, Hans ^a  

^a VU UNIVERSITY AMSTERDAM   (Netherlands)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^d CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CELL CYCLE PROTEIN; COMPLEMENTARY DNA; DNA BINDING PROTEIN; FANCC PROTEIN, HUMAN; FANCONI ANEMIA GROUP C PROTEIN; FANCONI ANEMIA PROTEIN; NUCLEAR PROTEIN; PROTEIN;

AMINO ACID SEQUENCE; ARTICLE; CELL CULTURE; FANCONI ANEMIA; GENE EXPRESSION; GENETIC COMPLEMENTATION; GENETIC TRANSCRIPTION; GENETICS; HUMAN; METHODOLOGY; MOLECULAR CLONING; MOLECULAR GENETICS; MUTATION; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PATHOLOGY; PROTEIN SYNTHESIS;

AMINO ACID SEQUENCE; BASE SEQUENCE; BLOTTING, NORTHERN; CELL CYCLE PROTEINS; CELLS, CULTURED; CLONING, MOLECULAR; DNA, COMPLEMENTARY; DNA-BINDING PROTEINS; FANCONI ANEMIA; FANCONI ANEMIA COMPLEMENTATION GROUP C PROTEIN; FANCONI ANEMIA COMPLEMENTATION GROUP PROTEINS; GENE EXPRESSION; GENETIC COMPLEMENTATION TEST; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; OPEN READING FRAMES; PROTEIN BIOSYNTHESIS; PROTEINS; TRANSCRIPTION, GENETIC;

EID: 1842337370     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1196-320     Document Type: Letter

References (26)

1. Giampietro, P.F. et al. The need for more accurate and timely diagnosis in Fanconi anemia. A report from the International Fanconi Anemia Registry. Pediatrics 91, 1116-1120 (1993).
2. Liu, J.M., Buchwald, M., Walsh, C.E. & Young N.S. Fanconi anemia and novel strategies for therapy. Blood 84, 3995-4007 (1994).
3. Butturini, A., Gale, R.P., Veriander, P.C., Adler-Brecher, B., Gillio, A. & Aueroach, A.D. Hematologic abnormalities in Fanconi anemia. An International Fanconi Anemia Registry study. Blood 84, 1650-1655 (1994).
4. Young, N.S. & Alter, B.P. Aplastic Anemia, Acquired and Inherited. 275-324 (W.B. Saunders, Philadelphia, 1994).
5. Auerbach, A.D. Fanconi anemia diagnosis and the diepoxybutane (DEB) test. Exp. Hematol. 21, 731-733 (1993).
6. Kruyt, F.A.E., Dijkmans, L.M., Van den Berg, T.K. & Joenje, H. Fanconi anemia genes act to suppress a crosslinker-inducible p53-independent apoptosis pathway in lymphoblastoid cell lines. Blood 87, 938-948 (1996).
7. Duckworth-Rysiecki, G., Cornish, K., Clarke, C.A. & Buchwald, M. Identification of two complementation groups in Fanconi anemia. Somatic Cell Mol. Genet. 11, 35-41 (1985).
8. Strathdee, C.A., Duncan, A.M.V. & Buchwald, M. Evidence for at least four Fanconi anemia genes including FACC on chromosome 9. Nature Genet. 1, 196-198(1992).
9. Joenje, H. et al. Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype. Blood 86, 2156-2160 (1995).
10. Buchwald, M. Complementation groups: one or more per gene? Nature Genet. 11, 228-230 (1995).
11. Joenje, H. Fanconi anaemia complementation groups in Germany and The Netherlands. Hum. Genet. 97, 280-282 (1996).
12. Strathdee, C.A., Gavish, H., Shannon, W.R. & Buchwald, M. Cloning of Fanconi anemia cDNAs through functional complementation. Nature 356, 763-767 (1992). (Also Nature 358,434).
13. Prank, J.C. et al. Localisation of the Fanconi anaemia complementation group A gene to chromosome 16q24.3. Nature Genet. 11, 338-340 (1995).
14. Whitney, M. et al. Microcell mediated chromosome transfer maps the Fanconi anemia group D gene to chromosome 3p. Nature Genet. 11, 341-343 (1995).
15. Kneller, D.G., Cohen, F.E. & Langridge, R. Improvements in protein secondary structure prediction by an enhanced neural network. J. Mol. Biol. 214, 171-182 (1990).
16. Bairoch, A. PROSITE: a dictionary of sites and patterns in proteins. Nucl. Acids Res. 19, 2241-2245 (1991).
17. Dingwall, C. & Laskey, R.A. Nuclear targeting sequences — a consensus? Trends Biochem. Sci. 16, 478-481 (1991).
18. Hurst, H.C. Transcription factors. 1: bZIP proteins. Prof. Profile 1, 123-68 (1994).
19. Altschul, S.F., Gish, W., Miller, W., Myers, E.W. & Lipman, D.J. Basic local alignment search tool. J. Mol. Biol. 215, 403-410 (1990).
20. Friedberg, E.C., Walker, G.C. & Siede, W. DNA Repair and Mutagenesis. 633-685 (ASM, Washington, D.C., 1995).
21. 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. USA 91, 6712-6716 (1994).
22. Youssoufian, H. Localization of Fanconi anemia C protein to the cytoplasm of mammalian cells. Proc. Natl. Acad. Sci. USA 91, 7975-7979 (1994).
23. Buchwald, M., Clarke, C., Ng, J., Duckworth-Rysiecki, G. & Weksberg, R. Complementation and gene transfer studies in Fanconi anemia, in Fanconi Anemia, Clinical, Cytogenetic and Experimental Aspects, (eds Schroeder-Kurth T, Auerbach A.D. & Obe, G.) 226-235 (Springer-Verlag, Berlin, 1989).
24. Ishida, R. & Buchwald, M. Susceptibility of Fanconi's anemia lymphobiasts to DNA cross-linking and alkylating agents. Cancer Res. 42, 4000-4006 (1982).
25. Fantes, J.A. et al. Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization. Am. J. Hum. Genet. 51, 1286-1294 (1992).
26. Hogervorst, F.B.L. et al. Rapid detection of BRCAL mutations by the protein truncation test. Nature Genet. 10, 208-212 (1995).