FANCI is a second monoubiquitinated member of the Fanconi anemia pathway

  • Nat Struct Mol Biol. 2007 Jun;14(6):564-7. doi: 10.1038/nsmb1252.
Ashley E Sims  1 ,  Elizabeth Spiteri ,  Robert J Sims 3rd ,  Adriana G Arita ,  Francis P Lach ,  Thomas Landers ,  Melanie Wurm ,  Marcel Freund ,  Kornelia Neveling ,  Helmut Hanenberg ,  Arleen D Auerbach ,  Tony T Huang
Affiliations
  • 1. Department of Biochemistry, New York University School of Medicine, New York, New York 10016, USA.
PMID: 17460694 DOI: 10.1038/nsmb1252
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.