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Gene Review:

FANCD2 - Fanconi anemia, complementation group D2

Gallus gallus

Yamamoto, K. et al., Matsushita, N. et al.

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Disease relevance of FANCD2

Fanconi anemia protein FANCD2 promotes immunoglobulin gene conversion and DNA repair through a mechanism related to homologous recombination [1].
Here, we show that a chicken FancD2-ubiquitin fusion protein, carrying a Lys-Arg substitution removing the natural monoubiquitination site (D2KR-Ub), could reverse cisplatin hypersensitivity and localize to chromatin in FANCD2-deficient DT40 cells [2].

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].

References

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]
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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