[Complex role of the FA proteins in providing genome stability].
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.
Kluzek
Katarzyna
K
Department of Molecular Cell Genetics, Nicolaus Copernicus Collegium Medicum in Bydgoszcz, 9 M. Sklodowskiej-Curie St., 85-094 Bydgoszcz, Poland.
Zdzienicka
Małgorzata Z
MZ