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Levitus M Waisfisz Q Godthelp BC de Vries Y Hussain S Wiegant WW Elghalbzouri-Maghrani E Steltenpool J Rooimans MA Pals G Arwert F Mathew CG Zdzienicka MZ Hiom K De Winter JP Joenje H 《Nature genetics》2005,37(9):934-935
The protein predicted to be defective in individuals with Fanconi anemia complementation group J (FA-J), FANCJ, is a missing component in the Fanconi anemia pathway of genome maintenance. Here we identify pathogenic mutations in eight individuals with FA-J in the gene encoding the DEAH-box DNA helicase BRIP1, also called FANCJ. This finding is compelling evidence that the Fanconi anemia pathway functions through a direct physical interaction with DNA. 相似文献
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Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products 总被引:50,自引:0,他引:50
Zhao S Weng YC Yuan SS Lin YT Hsu HC Lin SC Gerbino E Song MH Zdzienicka MZ Gatti RA Shay JW Ziv Y Shiloh Y Lee EY 《Nature》2000,405(6785):473-477
Ataxia-telangiectasia (A-T) and Nijmegen breakage syndrome (NBS) are recessive genetic disorders with susceptibility to cancer and similar cellular phenotypes. The protein product of the gene responsible for A-T, designated ATM, is a member of a family of kinases characterized by a carboxy-terminal phosphatidylinositol 3-kinase-like domain. The NBS1 protein is specifically mutated in patients with Nijmegen breakage syndrome and forms a complex with the DNA repair proteins Rad50 and Mrel1. Here we show that phosphorylation of NBS1, induced by ionizing radiation, requires catalytically active ATM. Complexes containing ATM and NBS1 exist in vivo in both untreated cells and cells treated with ionizing radiation. We have identified two residues of NBS1, Ser 278 and Ser 343 that are phosphorylated in vitro by ATM and whose modification in vivo is essential for the cellular response to DNA damage. This response includes S-phase checkpoint activation, formation of the NBS1/Mrel1/Rad50 nuclear foci and rescue of hypersensitivity to ionizing radiation. Together, these results demonstrate a biochemical link between cell-cycle checkpoints activated by DNA damage and DNA repair in two genetic diseases with overlapping phenotypes. 相似文献
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