FANCE Background Information
Fanconi anemia (FA) is an autosomal recessive disorder characterized by bone marrow failure, birth defects and chromosomal instability (1-8). At the cellular level, FA is characterized by spontaneous chromosomal breakage and a unique hypersensitivity to DNA cross-linking agents (1). At least 8 complementation groups (A-G) have been identified and 6 FA genes (for subtypes A, C, D2, E F, and G) have been cloned (2). The FA proteins lack sequence homologies or motifs that could point to a molecular function (1). Phosphorylation of FANC (Fanconi anemia complementation group) proteins is thought to be important for the function of the FA pathway (2,3). FA proteins encoded by 6 cloned FA genes (FANCA, FANCC, FANCD2, FANCE, FANCF, and FANCG) cooperate in a common pathway, culminating in the monoubiquitination of FANCD2 protein and the colocalization of FANCD2 and BRCA1 proteins in nuclear foci (4-6). The human FANCE gene maps to chromosome 6p22-p21, contains 10 exons and encodes a novel 536-amino acid protein with two potential nuclear localization signals (7,8).
