FANCI is a second monoubiquitinated member of the Fanconi anemia pathway
- 25 April 2007
- journal article
- research article
- Published by Springer Nature in Nature Structural & Molecular Biology
- Vol. 14 (6) , 564-567
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.Keywords
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