Cloning of cDNAs for Fanconi's anaemia by functional complementation

Nature. 1992 Apr 30;356(6372):763-7. doi: 10.1038/356763a0.


Fanconi's anaemia is a rare autosomal recessive disorder characterized by progressive pancytopaenia and a cellular hypersensitivity to DNA crosslinking agents. Four genetic complementation groups have been identified so far, and here we use a functional complementation method to clone complementary DNAs that correct the defect of group C cells. The cDNAs encode alternatively processed transcripts of a new gene, designated FACC, which is mutated in group C patients. The predicted FACC polypeptide does not contain any motifs common to other proteins and so represents a new gene involved in the cellular response to DNA damage.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Blotting, Northern
  • Cell Line
  • Cell Survival / drug effects
  • Cloning, Molecular / methods*
  • Dose-Response Relationship, Drug
  • Drug Resistance
  • Epoxy Compounds / pharmacology
  • Fanconi Anemia / genetics*
  • Gene Library
  • Genetic Complementation Test
  • Humans
  • Mitomycin
  • Molecular Sequence Data
  • Mutagens / pharmacology
  • Mutation
  • Polymerase Chain Reaction
  • Restriction Mapping
  • Transfection


  • Epoxy Compounds
  • Mutagens
  • Mitomycin
  • diepoxybutane

Associated data

  • GENBANK/X66184