FANCD2 (Fanconi anemia, complementation group D2)
نویسندگان
چکیده
منابع مشابه
Advances in the understanding of Fanconi Anemia Complementation Group D2 Protein (FANCD2) in human cancer.
Fanconi anemia (FA) is a rare human genetic disease, resulting from dysfunction in any of 17 known complementation proteins: FANC-A, B, C, D1, D2, E, F, G, I, J, L, M, N, O, P, Q & S, and other unknowns. Besides the severe bone marrow failure, an extremely high incidence of cancer as well as many other clinic symptoms associated with FA patients, FA cells are known of insufficiency in homologou...
متن کاملImpaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M.
FANCM is a component of the Fanconi anemia (FA) core complex and one FA patient (EUFA867) with biallelic mutations in FANCM has been described. Strikingly, we found that EUFA867 also carries biallelic mutations in FANCA. After correcting the FANCA defect in EUFA867 lymphoblasts, a "clean" FA-M cell line was generated. These cells were hypersensitive to mitomycin C, but unlike cells defective in...
متن کاملIdentification of the Fanconi Anemia Complementation Group I Gene, FANCI
To identify the gene underlying Fanconi anemia (FA) complementation group I we studied informative FA-I families by a genome-wide linkage analysis, which resulted in 4 candidate regions together encompassing 351 genes. Candidates were selected via bioinformatics and data mining on the basis of their resemblance to other FA genes/proteins acting in the FA pathway, such as: degree of evolutionary...
متن کاملFANCD 2 ( Fanconi anemia , complementation group D 2 )
The FA complex is comprised of: FANCA, FANCC, FANCE, FANCF, and FANCG; this complex is only found in the nucleus. FANCA and FANCG form a complex in the cytoplasm, through a N-term FANCA (involving the nuclear localization signal) FANCG interaction; FANCC join the complex; phosphorylation of FANCA would induce its translocation into the nucleus.This FA complex translocates into the nucleus, wher...
متن کاملRED CELLS, IRON, AND ERYTHROPOIESIS Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M
1Division of Experimental Hematology and Cancer Biology, Cincinnati Children’s Research Foundation, University of Cincinnati College of Medicine, OH; 2Department of Clinical Genetics, VU University Medical Centre, Amsterdam, The Netherlands; 3Division of Molecular Biology, The Netherlands Cancer Institute, Amsterdam, The Netherlands; and 4Department of Toxicogenetics, Leiden University Medical ...
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ژورنال
عنوان ژورنال: Atlas of Genetics and Cytogenetics in Oncology and Haematology
سال: 2011
ISSN: 1768-3262
DOI: 10.4267/2042/37893