Molecular pathogenesis of fanconi anemia

Int J Hematol. 2002 Feb;75(2):123-8. doi: 10.1007/BF02982016.

Abstract

Fanconi anemia (FA) is a rare autosomal recessive chromosomal breakage disorder characterized by the childhood onset of aplastic anemia, developmental defects, cancer susceptibility, and cellular hypersensitivity to DNA-cross-linking agents. FA patients can be divided into at least 8 complementation groups (FA-A, FA-B, FA-C, FA-D1, FA-D2, FA-E, FA-F, and FA-G). FA proteins encoded by 6 cloned FA genes (FANCA, FANCC, FANCD2, FANCE, FANCF, and FANCG) cooperate in a common pathway, culminating in the monoubiquitination of FANCD2 protein and colocalization of FANCD2 and BRCA1 proteins in nuclear foci. These BRCA1 foci have been implicated in the process of homologous recombination-mediated DNA repair. In this review, we will summarize the current progress in the field of FA research and highlight some of the potential functions of the FA pathway in DNA-damage response.

Publication types

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

MeSH terms

  • Animals
  • BRCA1 Protein / metabolism
  • Cell Cycle Proteins*
  • DNA Damage
  • DNA-Binding Proteins*
  • Fanconi Anemia / etiology*
  • Fanconi Anemia / genetics
  • Fanconi Anemia / metabolism
  • Fanconi Anemia Complementation Group C Protein
  • Fanconi Anemia Complementation Group D2 Protein
  • Fanconi Anemia Complementation Group Proteins
  • Female
  • Humans
  • Male
  • Nuclear Proteins / metabolism
  • Proteins / metabolism

Substances

  • BRCA1 Protein
  • Cell Cycle Proteins
  • DNA-Binding Proteins
  • FANCC protein, human
  • FANCD2 protein, human
  • Fanconi Anemia Complementation Group C Protein
  • Fanconi Anemia Complementation Group D2 Protein
  • Fanconi Anemia Complementation Group Proteins
  • Nuclear Proteins
  • Proteins