RRC ID 19176
著者 Vaz F, Hanenberg H, Schuster B, Barker K, Wiek C, Erven V, Neveling K, Endt D, Kesterton I, Autore F, Fraternali F, Freund M, Hartmann L, Grimwade D, Roberts RG, Schaal H, Mohammed S, Rahman N, Schindler D, Mathew CG.
タイトル Mutation of the RAD51C gene in a Fanconi anemia-like disorder.
ジャーナル Nat Genet
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.
巻・号 42(5)
ページ 406-9
公開日 2010-5-1
DOI 10.1038/ng.570
PII ng.570
PMID 20400963
MeSH Child Consanguinity DNA Damage DNA Repair DNA-Binding Proteins / genetics* Family Health Fanconi Anemia / genetics* Female Germ-Line Mutation Homozygote Humans Infant Infant, Newborn Male Mutation Mutation, Missense* Pedigree Recombination, Genetic
IF 27.605
引用数 269
WOS 分野 GENETICS & HEREDITY
リソース情報
ヒト・動物細胞 ΔRad51C-DT40 (RCB1623)