2. Academic Validation
  3. FANCI is a second monoubiquitinated member of the Fanconi anemia pathway

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

Affiliation

  • 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.

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