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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.

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  • 1Department of Biochemistry, New York University School of Medicine, New York, New York 10016, USA.

Abstract

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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