Abstract
Investigators have dedicated considerable effort to understanding the molecular basis underlying Fanconi Anemia (FA), a rare human genetic disease featuring an extremely high incidence of cancer and many congenital defects. Among those studies, FA group D2 protein (FANCD2) has emerged as the focal point of FA signaling and plays crucial roles in multiple aspects of cellular life, especially in the cellular responses to DNA damage. Here, we discuss the recent and relevant studies to provide an updated review on the roles of FANCD2 in the DNA damage response.
Highlights
Introduction of the Fanconi Anemia PathwayFanconi anemia (FA) is a rare human genetic disease displaying various clinical symptoms such as severe bone marrow failure, an extremely high incidence of cancer, and many other congenital defects
Fanconi anemia group D2 protein (FANCD2) monoubiquitination can occur in vitro in the absence of the FA core complex E3 [53], showing it can act in an FA pathway-independent manner
Studies have shown that many functions of FANCD2 in the FA signaling pathway are largely dependent on the phosphorylation of FANCI that is performed by ATR [60]
Summary
Fanconi anemia (FA) is a rare human genetic disease displaying various clinical symptoms such as severe bone marrow failure, an extremely high incidence of cancer, and many other congenital defects. FA is characterized by chromosomal abnormalities and hypersensitivity to DNA crosslinking agents, such as mitomycin C (MMC), diepoxybutane (DEB), and Cisplatin [2,3,4] These common features are displayed in at least 22 known complementation groups FANC-A, B, C, D1, D2, E, F, G, I, J, L, M, N, O, P, Q, R, S, T, U, V and W [5,6,7,8,9,10,11,12,13,14,15,16,17], which suggests that the FA proteins all function in a shared signaling transduction pathway, namely, the FA pathway. This is further supported by its conservation in regards to its homologous presence in the species, wherein many FA gene-related homologs are absent [27]
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