title: [The role of the Fanconi anemia pathway in DNA repair and maintenance of genome stability].
abstract: The Fanconi anemia (FA) pathway is one of the DNA repair systems involved in removal of DNA crosslinks. Proteins which belong to this pathway are crucial to the protection of genetic information, whereas disturbances in their function have serious implications for the whole organism. Biallelic mutations in FA genes are the cause of Fanconi anemia - a genetic disease which manifests itself through numerous congenital abnormalities, chromosomal instability and increased predisposition to cancer. The FA pathway is composed of fifteen proteins. Eight of them, in the presence of DNA interstrand crosslinks (ICLs), form a nuclear core complex responsible for monoubiquitination of FANCD2 and FANCI, which is a key step of ICL repair. FA proteins which are not involved in the monoubiquitination step participate in repair of DNA double strand breaks via homologous recombination. Some of the FA proteins, besides having a direct role in the repair of DNA damage, are engaged in replication, cell cycle control and mitosis. The unperturbed course of those processes determines the maintenance of genome stability.
authors.affiliation: Katedra i Zakład Genetyki Molekularnej Komórki, Uniwersytet Mikołaja Kopernika w Toruniu, Collegium Medicum im. L. Rydygiera w Bydgoszczy.
authors.forename: Aleksandra M
authors.initials: AM
authors.lastname: Koczorowska
authors.affiliation: Katedra i Zakład Genetyki Molekularnej Komórki, Uniwersytet Mikołaja Kopernika w Toruniu, Collegium Medicum im. L. Rydygiera w Bydgoszczy.
authors.forename: Aneta
authors.initials: A
authors.lastname: Białkowska
authors.affiliation: Katedra i Zakład Genetyki Molekularnej Komórki, Uniwersytet Mikołaja Kopernika w Toruniu, Collegium Medicum im. L. Rydygiera w Bydgoszczy.
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Kluzek
authors.affiliation: Katedra i Zakład Genetyki Molekularnej Komórki, Uniwersytet Mikołaja Kopernika w Toruniu, Collegium Medicum im. L. Rydygiera w Bydgoszczy.
authors.forename: Małgorzata Z
authors.initials: MZ
authors.lastname: Zdzienicka
mesh_terms: D043171:Chromosomal Instability; D053903:DNA Breaks, Double-Stranded; D004249:DNA Damage; D004260:DNA Repair / Q000502:physiology*; D004261:DNA Replication; D005199:Fanconi Anemia / Q000235:genetics / Q000378:metabolism; D052236:Fanconi Anemia Complementation Group D2 Protein / Q000378:metabolism; D051856:Fanconi Anemia Complementation Group Proteins / Q000235:genetics*; D042822:Genomic Instability / Q000502:physiology*; D006801:Humans; D009154:Mutation
chemical_list: D052236:Fanconi Anemia Complementation Group D2 Protein; D051856:Fanconi Anemia Complementation Group Proteins