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Gene Review

FANCD2  -  Fanconi anemia, complementation group D2

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Disease relevance of FANCD2


High impact information on FANCD2

  • Here, we show that FANCD2-disrupted DT40 chicken B-cell line is defective in HR-mediated DNA double-strand break (DSB) repair, as well as gene conversion at the immunoglobulin light-chain locus, an event also mediated by HR [1].


  1. Fanconi anemia protein FANCD2 promotes immunoglobulin gene conversion and DNA repair through a mechanism related to homologous recombination. Yamamoto, K., Hirano, S., Ishiai, M., Morishima, K., Kitao, H., Namikoshi, K., Kimura, M., Matsushita, N., Arakawa, H., Buerstedde, J.M., Komatsu, K., Thompson, L.H., Takata, M. Mol. Cell. Biol. (2005) [Pubmed]
  2. A FancD2-monoubiquitin fusion reveals hidden functions of Fanconi anemia core complex in DNA repair. Matsushita, N., Kitao, H., Ishiai, M., Nagashima, N., Hirano, S., Okawa, K., Ohta, T., Yu, D.S., McHugh, P.J., Hickson, I.D., Venkitaraman, A.R., Kurumizaka, H., Takata, M. Mol. Cell (2005) [Pubmed]
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