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- Title
FANCI is a second monoubiquitinated member of the Fanconi anemia pathway.
- Authors
Sims, Ashley E; Spiteri, Elizabeth; Sims, Robert J, 3rd; Arita, Adriana G; Lach, Francis P; Landers, Thomas; Wurm, Melanie; Freund, Marcel; Neveling, Kornelia; Hanenberg, Helmut; Auerbach, Arleen D; Huang, Tony T
- 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.
- Publication
Nature structural & molecular biology, 2007, Vol 14, Issue 6, p564
- ISSN
1545-9993
- Publication type
Journal Article
- DOI
10.1038/nsmb1252