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    Nat Struct Mol Biol. 2007 Jun;14(6):564-7. Epub 2007 Apr 25.

    FANCI is a second monoubiquitinated member of the Fanconi anemia pathway.

    Sims AE, Spiteri E, Sims RJ 3rd, Arita AG, Lach FP, Landers T, Wurm M, Freund M, Neveling K, Hanenberg H, Auerbach AD, Huang TT.

    Department of Biochemistry, New York University School of Medicine, New York, New York 10016, USA.

    Activation of the Fanconi anemia (FA) DNA damage-response pathway results in the monoubiquitination of FANCD2, which is regulated by the nuclear FA core ubiquitin ligase complex. A FANCD2 protein sequence-based homology search facilitated the discovery of FANCI, a second monoubiquitinated component of the FA pathway. Biallelic mutations in the gene coding for this protein were found in cells from four FA patients, including an FA-I reference cell line.

    PMID: 17460694 [PubMed - indexed for MEDLINE]

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