Journal
NATURE GENETICS
Volume 42, Issue 5, Pages 406-U63Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.570
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Funding
- Medical Research Council UK
- Daniel Ayling Trust
- Forschungskommission of the Heinrich Heine University, Dusseldorf
- Deutsche Forschungsgemeinschaft [SPP1230]
- Bundesministerium fur Bildung und Forschung network for congenital bone marrow failure syndromes
- Deutsche Fanconi Anaemie Hilfe
- Aktionskreis Fanconi Anaemie
- Schroeder Kurth Fund
- Jurgen-Manchot-Stiftung
- European Molecular Biology Organization [ASTF 177-2008]
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Fanconi anemia (FA) is a rare chromosomal-instability disorder associated with a variety of developmental abnormalities, bone marrow failure and predisposition to leukemia and other cancers(1). We have identified a homozygous missense mutation in the RAD51C gene in a consanguineous family with multiple severe congenital abnormalities characteristic of FA. RAD51C is a member of the RAD51-like gene family involved in homologous recombination-mediated DNA repair. The mutation results in loss of RAD51 focus formation in response to DNA damage and in increased cellular sensitivity to the DNA interstrand cross-linking agent mitomycin C and the topoisomerase-1 inhibitor camptothecin. Thus, biallelic germline mutations in a RAD51 paralog are associated with an FA-like syndrome.
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