The Fanconi anemia protein, FANCE, promotes the nuclear accumulation of FANCC

Blood. 2002 Oct 1;100(7):2457-62. doi: 10.1182/blood-2002-03-0860.

Abstract

Fanconi anemia is an autosomal recessive disorder characterized by aplastic anemia, cancer susceptibility, and cellular sensitivity to mitomycin C. The 6 known Fanconi anemia gene products (FANCA, FANCC, FANCD2, FANCE, FANCF, and FANCG proteins) interact in a common pathway. The monoubiquitination and nuclear foci formation of FANCD2 are essential for the function of this pathway. FANCA, FANCC, FANCG, and FANCF proteins form a multisubunit nuclear complex (FA complex) required for FANCD2 monoubiquitination. Because FANCE and FANCC interact in vitro and FANCE is required for FANCD2 monoubiquitination, we reasoned that FANCE is a component of the FA complex in vivo. Here we demonstrate that retroviral transduction of Fanconi anemia subtype E (FA-E) cells with the FANCE cDNA restores the nuclear accumulation of FANCC protein, FANCA-FANCC complex formation, monoubiquitination and nuclear foci formation of FANCD2, and mitomycin C resistance. Hemagglutinin (HA)-tagged FANCE protein localizes diffusely in the nucleus. In normal cells, HA-tagged FANCE protein coimmunoprecipitates with FANCA, FANCC, and FANCG but not with FANCD2. Our data indicate that FANCE is a component of the nuclear FA complex in vivo and is required for the monoubiquitination of FANCD2 and the downstream events in the FA pathway.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Cell Cycle Proteins*
  • Cell Fractionation
  • Cell Line, Transformed
  • Cell Nucleus / metabolism*
  • Cell Nucleus / ultrastructure
  • DNA-Binding Proteins*
  • Fanconi Anemia / blood*
  • Fanconi Anemia Complementation Group C Protein
  • Fanconi Anemia Complementation Group D2 Protein
  • Fanconi Anemia Complementation Group E Protein
  • Fanconi Anemia Complementation Group Proteins
  • Herpesvirus 4, Human / genetics
  • Humans
  • Nuclear Proteins / metabolism*
  • Proteins / metabolism*

Substances

  • Cell Cycle Proteins
  • DNA-Binding Proteins
  • FANCC protein, human
  • FANCD2 protein, human
  • FANCE protein, human
  • Fanconi Anemia Complementation Group C Protein
  • Fanconi Anemia Complementation Group D2 Protein
  • Fanconi Anemia Complementation Group E Protein
  • Fanconi Anemia Complementation Group Proteins
  • Nuclear Proteins
  • Proteins