Koczorowska Aleksandra M, Białkowska Aneta, Kluzek Katarzyna, Zdzienicka Małgorzata Z
Katedra i Zakład Genetyki Molekularnej Komórki, Uniwersytet Mikołaja Kopernika w Toruniu, Collegium Medicum im. L. Rydygiera w Bydgoszczy.
Postepy Hig Med Dosw (Online). 2014 May 8;68:459-72. doi: 10.5604/17322693.1101567.
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.
范可尼贫血（FA）途径是参与去除DNA交联的DNA修复系统之一。属于该途径的蛋白质对于保护遗传信息至关重要，而其功能紊乱会对整个生物体产生严重影响。FA基因的双等位基因突变是范可尼贫血的病因，这是一种遗传性疾病，表现为多种先天性异常、染色体不稳定和患癌倾向增加。FA途径由十五种蛋白质组成。其中八种在存在DNA链间交联（ICL）的情况下，形成一个核核心复合物，负责FANCD2和FANCI的单泛素化，这是ICL修复的关键步骤。不参与单泛素化步骤的FA蛋白通过同源重组参与DNA双链断裂的修复。一些FA蛋白除了在DNA损伤修复中起直接作用外，还参与复制、细胞周期调控和有丝分裂。这些过程的正常进行决定了基因组稳定性的维持。
