期刊
INTERNATIONAL JOURNAL OF HEMATOLOGY
卷 82, 期 3, 页码 176-183出版社
SPRINGER JAPAN KK
DOI: 10.1532/IJH97.05108
关键词
Fanconi anemia; DNA repair; cell cycle control; genome instability
类别
Fanconi anemia (FA) is a rare inherited disorder characterized clinically by aplastic anemia, developmental defects, and a susceptibility to cancer. Eleven complementation groups have been identified (FA-A, -B, -C, -D1, -D2, -E, -F, -G, -I, -J, and -L), and the genes responsible for 9 groups (FANCA, B, C, D1, D2, E, F, G, and L) have been cloned. The proteins involved in FA act coordinately in the cellular response to DNA cross-links in a pathway that has been shown to interact physically or functionally with a variety of other proteins involved in DNA repair or cell cycle control, notably BRCA1, Rad51, ATM, ATR, and Nbs1. Considerable advances in the identification and description of proteins involved in FA have been recorded, but the precise biochemical function of the FA pathway remains elusive. As research continues to improve our understanding of FA, insight will be gained into what is a pivotal process in cancer biology.
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