Fanconi anemia (FA) is an inherited disease distinct from the failure of bone marrow, growth disturbance, predisposition to cancer and concomitant chromosomal abnormalities. FA is associated with genes involved in DNA replication and DNA repair processes. More than 20 proteins have been identified to be related with FANC pathway operation. Necessary prerequisite for activation and regulation of FA pathway is the monoubiquitination of heterodimer FANCD2-FANCI by core proteins of Fanc complex. The monoubiquitination of FANCD2-FANCI is crucial for nuclear localization of heterodimer, binding to chromatin and regulation of DNA repair procedure. Mutations of genes of FANC complex proteins associated with deficiency of DNA repair pathways affected cellular and genome instability. The interaction between proteins and ubiquitination affected genomic integrity and stability.
Part of the book: Ubiquitination Governing DNA Repair