Reference - Detail
| RRC ID | 19176 |
|---|---|
| Author | 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. |
| Title | Mutation of the RAD51C gene in a Fanconi anemia-like disorder. |
| Journal | 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. |
| Volume | 42(5) |
| Pages | 406-9 |
| Published | 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 |
| Times Cited | 269 |
| WOS Category | GENETICS & HEREDITY |
| Resource | |
| Human and Animal Cells | ΔRad51C-DT40 (RCB1623) |