Regulation of the Fancd2 Phosphorylation and Complex Formation for DNA Repair
Zhi, Gang, Department of Microbiology, University of Virginia
Kupfer, Gary, Department of Microbiology, University of Virginia
Fanconi anemia (FA) is a genetic life-threatening disorder  featuring progressive bone marrow failure, birth defects, leukemia, increased incidence of solid tumors, spontaneous chromosomal instability and hypersensitivity to DNA cross linking reagents[2, 3]. FA reveals itself usually in the first decade of life in the form of marrow failure, with extreme fatigue, frequent infections and spontaneous bleeding due to failed production of blood. The carrier frequency for FA is 1/300-1/600, making FA the most common inherited bone-marrow failure syndrome. At the cellular level, the distinguishing and diagnostic features of FA are spontaneous genomic instability and hypersensitivity to DNA interstrand crosslinkers such as mitomycin C (MMC), diepoxybutane (DEB) and cisplatin. Because of genomic instability visible on chromosomal spread, FA has gained much attention in the last decades, especially after the discovery of the connection between FA and the well-known BRCA genes.
PHD (Doctor of Philosophy)
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