Abstract
Fanconi anemia (FA) is a hereditary disorder characterized by bone marrow failure and genome instability that is ascribed to defective DNA interstrand cross-link (ICL) repair. In this chapter we summarize our current understanding of the function of the FA genes, the mechanism for FA pathway activation, and the processes of ICL repair in the cell. In addition, we will highlight recent evidence that implicates endogenous aldehydes in creating genomic damage in FA cells, culminating in the FA phenotypes.
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Acknowledgments
We would like to thank our former lab members and collaborators. In particular, we greatly acknowledge Drs. Tomoko Shigechi-Takai and Asuka Hira. We also appreciate our long-standing and fruitful collaboration with Drs. Hitoshi Kurumizaka and Koichi Sato (Waseda University), Miharu Yabe and Hiromasa Yabe (Tokai University), Keitaro Matsuo (Kyushu University), Megumu Saito and Naoya M. Suzuki (CiRA, Kyoto University), Tsuyoshi Ikura (Radiation Biology Center, Kyoto University), Masato Kanemaki and Kohei Nishimura (Institute of Genetics, Japan), and Masato Taoka and Toshiaki Isobe (Tokyo Metropolitan University). The authors’ work has been supported by grants from the Ministry of Health, Labor, and Welfare and Grant-in-Aid for Scientific Research (KAKENHI) from the Ministry of Education, Culture, Sports, Science, and Technology (MEXT).
Recent progress has identified the following novel FA genes/subtypes: FANCR/RAD51(Wang et al., 2015), FANCS/BRCA1(Sawyer et al., 2014), and FANCT/UBE2T (Hira et al., 2015; Rickman et al., 2015; Virts et al., 2015). The readers should refer to the original papers cited above and a recent review (Bogliolo and Surrallés, 2015) that nicely summarized the findings.
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Ishiai, M., Tomida, J., Itaya, A., Hejna, J., Takata, M. (2016). The Fanconi Anemia Pathway and Interstrand Cross-Link Repair. In: Hanaoka, F., Sugasawa, K. (eds) DNA Replication, Recombination, and Repair. Springer, Tokyo. https://doi.org/10.1007/978-4-431-55873-6_8
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