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FANCI is a second monoubiquitinated member of the Fanconi anemia pathway.

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.

Pubmed ID: 17460694

Authors

  • Sims AE
  • Spiteri E
  • Sims RJ
  • Arita AG
  • Lach FP
  • Landers T
  • Wurm M
  • Freund M
  • Neveling K
  • Hanenberg H
  • Auerbach AD
  • Huang TT

Journal

Nature structural & molecular biology

Publication Data

June 5, 2007

Associated Grants

  • Agency: NIGMS NIH HHS, Id: R01 GM084244
  • Agency: NHLBI NIH HHS, Id: R37HL32987

Mesh Terms

  • Amino Acid Sequence
  • Base Sequence
  • Blotting, Western
  • Computational Biology
  • DNA Repair
  • Fanconi Anemia
  • Fanconi Anemia Complementation Group D2 Protein
  • Fanconi Anemia Complementation Group Proteins
  • HeLa Cells
  • Humans
  • Immunoprecipitation
  • Microscopy, Fluorescence
  • Molecular Sequence Data
  • Mutation
  • Sequence Analysis, DNA
  • Ubiquitination