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Niall G. Howlett,1Toshiyasu Taniguchi,1Susan Olson,2Barbara Cox,2Quinten Waisfisz,3Christine de Die-Smulders,4Nicole Persky,1Markus Grompe,2Hans Joenje,3Gerard Pals,3Hideyuki Ikeda,5Edward A. Fox,1Alan D. D'Andrea1*
Fanconi anemia (FA) is a rare autosomal recessive cancer
susceptibility disorder characterized by cellular hypersensitivityto
mitomycin C (MMC). Six FA genes have been cloned, but the geneor genes
corresponding to FA subtypes B and D1 remain unidentified.Here we show
that cell lines derived from FA-B and FA-D1 patientshave biallelic
mutations in BRCA2 and express truncated BRCA2proteins.
Functional complementation of FA-D1 fibroblasts withwild-type
BRCA2 complementary DNA restores MMC resistance. Ourresults
link the six cloned FA genes with BRCA1 and BRCA2
in acommon pathway. Germ-line mutation of genes in this pathway
mayresult in cancer risks similar to those observed in families withBRCA1 or BRCA2 mutations.
1 Department of Pediatric Oncology, Dana-Farber
Cancer Institute and Department of Pediatrics, Children's Hospital,
Harvard Medical School, 44 Binney Street, Boston, MA 02115, USA.
2 Department of Molecular and Medical Genetics and
Department of Pediatrics, Oregon Health Sciences University, Portland,
OR 97201, USA.
3 Department of Clinical Genetics and
Human Genetics, Free University Medical Center, Van der Boechorststraat
7, NL-1081 BT Amsterdam, The Netherlands.
4 Department of Clinical Genetics, Academic Hospital
Maastricht, Maastricht, Netherlands.
5 Department of
Pathology, Sapporo Medical University School of Medicine, S-1, W-17,
Chuo-ku, Sapporo 060-8557, Japan.
*
To whom correspondence should be addressed. E-mail:
alan_dandrea{at}dfci.harvard.edu
The editors suggest the following Related Resources on Science sites:
In Science Magazine
PERSPECTIVES
Emily Witt and Alan Ashworth (26 July 2002) Science297 (5581), 534.
[DOI: 10.1126/science.1074482] |Summary »|Full Text »|PDF »
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279, 39421-39430
|Abstract »|Full Text »|PDF »
Impaired Type I IFN-Induced Jak/STAT Signaling in FA-C Cells and Abnormal CD4+ Th Cell Subsets in Fancc-/- Mice.
S. R. Fagerlie, T. Koretsky, B. Torok-Storb, and G. C. Bagby (2004)
J. Immunol.
173, 3863-3870
|Abstract »|Full Text »|PDF »
BRCA2 Is Ubiquitinated In Vivo and Interacts with USP11, a Deubiquitinating Enzyme That Exhibits Prosurvival Function in the Cellular Response to DNA Damage.
A. R. Schoenfeld, S. Apgar, G. Dolios, R. Wang, and S. A. Aaronson (2004)
Mol. Cell. Biol.
24, 7444-7455
|Abstract »|Full Text »|PDF »
Functional Defects in the Fanconi Anemia Pathway in Pancreatic Cancer Cells.
M. S. Van der Heijden, J. R. Brody, E. Gallmeier, S. C. Cunningham, D. A. Dezentje, D. Shen, R. H. Hruban, and S. E. Kern (2004)
Am. J. Pathol.
165, 651-657
|Abstract »|Full Text »|PDF »
Individualized risks of first adverse events in patients with Fanconi anemia.
Functional Interaction of Monoubiquitinated FANCD2 and BRCA2/FANCD1 in Chromatin.
X. Wang, P. R. Andreassen, and A. D. D'Andrea (2004)
Mol. Cell. Biol.
24, 5850-5862
|Abstract »|Full Text »|PDF »
The Fanconi Anemia Core Complex Forms Four Complexes of Different Sizes in Different Subcellular Compartments.
A. Thomashevski, A. A. High, M. Drozd, J. Shabanowitz, D. F. Hunt, P. A. Grant, and G. M. Kupfer (2004)
J. Biol. Chem.
279, 26201-26209
|Abstract »|Full Text »|PDF »
A Rad50-dependent pathway of DNA repair is deficient in Fanconi anemia fibroblasts.
Direct interaction of FANCD2 with BRCA2 in DNA damage response pathways.
S. Hussain, J. B. Wilson, A. L. Medhurst, J. Hejna, E. Witt, S. Ananth, A. Davies, J.-Y. Masson, R. Moses, S. C. West, et al. (2004)
Hum. Mol. Genet.
13, 1241-1248
|Abstract »|Full Text »|PDF »
Molecular cross-talk among chromosome fragility syndromes.
J. Surralles, S. P. Jackson, M. Jasin, M. B. Kastan, S. C. West, and H. Joenje (2004)
Genes & Dev.
18, 1359-1370
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Characterization of the hamster FancG/Xrcc9 gene and mutations in CHO UV40 and NM3.
J. E. Lamerdin, N. A. Yamada, J. W. George, B. Souza, A. T. Christian, N. J. Jones, and L. H. Thompson (2004)
Mutagenesis
19, 237-244
|Abstract »|Full Text »|PDF »
