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- Title
Mutation of the RAD51C gene in a Fanconi anemia-like disorder.
- Authors
Vaz, Fiona; Hanenberg, Helmut; Schuster, Beatrice; Barker, Karen; Wiek, Constanze; Erven, Verena; Neveling, Kornelia; Endt, Daniela; Kesterton, Ian; Autore, Flavia; Fraternali, Franca; Freund, Marcel; Hartmann, Linda; Grimwade, David; Roberts, Roland G; Schaal, Heiner; Mohammed, Shehla; Rahman, Nazneen; Schindler, Detlev; Mathew, Christopher G
- Abstract
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. 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.
- Publication
Nature genetics, 2010, Vol 42, Issue 5, p406
- ISSN
1546-1718
- Publication type
Journal Article
- DOI
10.1038/ng.570