Nuclear localization of the Fanconi anemia protein FANCC is required for functional activity.
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چکیده
Brunke KJ, Drayna DT, Risch NJ, Bacon BR, Wolff RK: A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis. Nat Genet 13:399, 1996 3. Jazwinska EC, Cullen LM, Busfield F, Puper WR, Webbe SI, Powell LW, Morris CP, Walsh TP: Hemochromatosis and HLA-H. Nat Genet 14:249, 1996 4. Jouanolle AM, Gandon G, Jezequel P, Blayau M, Campion ML, Yaouanq J, Mosser J, Fergelot P, Chavel B, Bouric P, Carn G, Andrieux N, Gicquel I, Le Gall JY, David V: Hemochromatosis and HLA-H. Nat Genet 14:251, 1996 5. Mura C, Nousbaum JB, Verger P, Moalic MT, Raguenes O, Mercier AY, Férec C: Phenotype-genotype correlation in haemochromatosis subjects. Hum Genet 101:271, 1997
منابع مشابه
Fanconi anemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a functional nuclear complex.
Fanconi anemia (FA) is an autosomal recessive cancer susceptibility syndrome with at least eight complementation groups (A to H). Three FA genes, corresponding to complementation groups A, C, and G, have been cloned, but their cellular function remains unknown. We have previously demonstrated that the FANCA and FANCC proteins interact and form a nuclear complex in normal cells, suggesting that ...
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localization may be cell-cycle dependent. Mutations in FA patients represent an important resource for understanding both the function of the FA proteins and the molecular basis of the disease. For instance, the FA patient-derived FANCC-L554P mutant, which has a leucine to proline mutation at amino acid 554, fails to complement the mitomycin-C sensitivity of FA-C cell lines7 and is defective in...
متن کاملCarboxy terminal region of the Fanconi anemia protein, FANCG/XRCC9, is required for functional activity.
Fanconi anemia (FA) is an autosomal recessive cancer susceptibility syndrome with eight complementation groups. Four of the FA genes have been cloned, and at least three of the encoded proteins, FANCA, FANCC, and FANCG/XRCC9, interact in a nuclear complex, required for the maintenance of normal chromosome stability. In the current study, mutant forms of the FANCA and FANCG proteins have been ge...
متن کاملPlenary paper Carboxy terminal region of the Fanconi anemia protein, FANCG/XRCC9, is required for functional activity
Fanconi anemia (FA) is an autosomal recessive cancer susceptibility syndrome with eight complementation groups. Four of the FA genes have been cloned, and at least three of the encoded proteins, FANCA, FANCC, and FANCG/XRCC9, interact in a nuclear complex, required for the maintenance of normal chromosome stability. In the current study, mutant forms of the FANCA and FANCG proteins have been ge...
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1. Kupfer GM, Naf D, Suliman A, Pulsipher M, D’Andrea AD. The Fanconi anemia proteins FAA and FAC, interact to form a nuclear complex. Nat. Genet. 1997; 17:487-490. 2. Garcia-Higuera I, Kuang Y, Naf D, Wasik J, D’Andrea AD: Fanconi anemia proteins FANCA, FANCC and FANCG/XRCC9 interact in a functional nuclear complex. Mol. Cell Biol. 1999;19:4866-4873. 3. Savoia A, Garcia-Higuera I, D’Andrea AD:...
متن کاملThe Fanconi anemia protein, FANCE, promotes the nuclear accumulation of FANCC.
Fanconi anemia is an autosomal recessive disorder characterized by aplastic anemia, cancer susceptibility, and cellular sensitivity to mitomycin C. The 6 known Fanconi anemia gene products (FANCA, FANCC, FANCD2, FANCE, FANCF, and FANCG proteins) interact in a common pathway. The monoubiquitination and nuclear foci formation of FANCD2 are essential for the function of this pathway. FANCA, FANCC,...
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ورودعنوان ژورنال:
- Blood
دوره 93 11 شماره
صفحات -
تاریخ انتشار 1999