[Complex role of the FA proteins in providing genome stability]

Postepy Biochem. 2005;51(4):387-94.
[Article in Polish]

Abstract

FA is a rare genetic disorder characterized by developmental abnormalities, bone marrow failure and cancer susceptibility. Cells that are derived from patients with FA display spontaneous chromosomal instability and hypersensitivity to DNA crosslinking agents that is used in FA clinical diagnostics. FA is genetically heterogeneous and caused by mutations in at least 11 distinct genes, FANCA, FANCA, B, C, D1, D2, E, F, G, I, J and L. FA proteins interact with various proteins involved in DNA damage response and cell cycle checkpoint regulation, such as: RAD51, BRCA1, BRCA2, ATM or NBS1. Moreover, BRCA2 that plays a crucial role in homologous recombination is one of FA proteins. Collectively, all these data indicate, that the FA pathway is involved in different molecular processes that prevent DNA and control genomic stability, although its precise role still remains undefined.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Apoptosis
  • Cell Cycle / genetics
  • Fanconi Anemia / complications
  • Fanconi Anemia / genetics*
  • Fanconi Anemia Complementation Group Proteins / physiology*
  • Genomic Instability / physiology*
  • Humans
  • Mutation
  • Neoplasms / etiology
  • Neoplasms / physiopathology
  • Oxidative Stress

Substances

  • Fanconi Anemia Complementation Group Proteins