Assembling an orchestra: Fanconi anemia pathway of DNA repair

Front Biosci (Landmark Ed). 2010 Jun 1;15(3):1131-49. doi: 10.2741/3666.

Abstract

Fanconi anemia (FA) is a recessive genetic disorder characterized by developmental defects, bone marrow failure, and cancer susceptibility. The complete set of FA genes has only been identified recently and seems to be uniquely conserved among vertebrates. Fanconi anemia proteins have been implicated in the repair of interstrand DNA crosslinks that block DNA replication and transcription. Although all thirteen FA complementation groups show similar clinical and cellular phenotypes, approximately 85% of patients presented defective FANCA, FANCC, or FANCG. The established DNA interacting components (FANCM, FANCI, FANCD2, and FANCJ) account only for approximately 5% of all FA patients, an observation that raises doubt concerning the roles of FA proteins in DNA repair. In recent years, rapid progress in the area of FA research has provided great insights into the critical roles of FA proteins in DNA repair. However, many FA proteins do not have identifiable domains to indicate how they contribute to biological processes, particularly DNA repair. Therefore, future biochemical studies are warranted to understand the biological functions of FA proteins and their implications in human diseases.

Publication types

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

MeSH terms

  • Animals
  • DNA Damage
  • DNA Repair / genetics
  • DNA Repair / physiology*
  • DNA Replication
  • Fanconi Anemia / genetics
  • Fanconi Anemia / metabolism*
  • Fanconi Anemia Complementation Group Proteins / metabolism
  • Fanconi Anemia Complementation Group Proteins / physiology*
  • Humans
  • Models, Genetic
  • Phosphorylation
  • Signal Transduction / genetics
  • Signal Transduction / physiology*

Substances

  • Fanconi Anemia Complementation Group Proteins