TY - JOUR
T1 - Positional cloning of a novel Fanconi anemia gene, FANCD2
AU - Timmers, Cynthia
AU - Taniguchi, Toshiyasu
AU - Hejna, James
AU - Reifsteck, Carol
AU - Lucas, Lora
AU - Bruun, Donald
AU - Thayer, Matthew
AU - Cox, Barbara
AU - Olson, Susan
AU - D'Andrea, Alan D.
AU - Moses, Robb
AU - Grompe, Markus
N1 - Funding Information:
This work was supported by NHLBI program project grant 1PO1HL48546 (M. G., S. O., and R. E. M.) and R01HL52725 (A. D'A.). We thank H. Joenje (Free University of Amsterdam, The Netherlands) and the European Fanconi Anemia Registry for making cell lines VU008 and VU423 available. We also thank the Fanconi Anemia Research Fund for their support.
PY - 2001
Y1 - 2001
N2 - Fanconi anemia (FA) is a genetic disease with birth defects, bone marrow failure, and cancer susceptibility. To date, genes for five of the seven known complementation groups have been cloned. Complementation group D is heterogeneous, consisting of two distinct genes, FANCD1 and FANCD2. Here we report the positional cloning of FANCD2. The gene consists of 44 exons, encodes a novel 1451 amino acid nuclear protein, and has two protein isoforms. Similar to other FA proteins, the FANCD2 protein has no known functional domains, but unlike other known FA genes, FANCD2 is highly conserved in A. thaliana, C. elegans, and Drosophila. Retroviral transduction of the cloned FANCD2 cDNA into FA-D2 cells resulted in functional complementation of MMC SENSITIVITY.
AB - Fanconi anemia (FA) is a genetic disease with birth defects, bone marrow failure, and cancer susceptibility. To date, genes for five of the seven known complementation groups have been cloned. Complementation group D is heterogeneous, consisting of two distinct genes, FANCD1 and FANCD2. Here we report the positional cloning of FANCD2. The gene consists of 44 exons, encodes a novel 1451 amino acid nuclear protein, and has two protein isoforms. Similar to other FA proteins, the FANCD2 protein has no known functional domains, but unlike other known FA genes, FANCD2 is highly conserved in A. thaliana, C. elegans, and Drosophila. Retroviral transduction of the cloned FANCD2 cDNA into FA-D2 cells resulted in functional complementation of MMC SENSITIVITY.
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U2 - 10.1016/S1097-2765(01)00172-1
DO - 10.1016/S1097-2765(01)00172-1
M3 - Article
C2 - 11239453
AN - SCOPUS:17744394476
SN - 1097-2765
VL - 7
SP - 241
EP - 248
JO - Molecular Cell
JF - Molecular Cell
IS - 2
ER -