| Literature DB >> 15279794 |
XiaoZhe Wang1, Alan D D'Andrea.
Abstract
Fanconi anemia (FA) is a rare autosomal recessive disease characterized by chromosome instability and cancer predisposition. At least 11 complementation groups for FA have been identified, and eight FA genes have been cloned. Interestingly, the eight known FA proteins cooperate in a common pathway leading to the interaction of monoubiquitinated FANCD2 and BRCA2 in damaged chromatin. Disruption of this pathway results in the clinical and cellular abnormalities common to all FA subtypes. This review will examine the interaction of the cloned FA proteins with each other and with other DNA damage response proteins (i.e., ATM, ATR, and NBS1). Also, somatic (acquired) disruption of the FA pathway in human tumors appears to account for their chromosome instability and crosslinker hypersensitivity.Entities:
Mesh:
Substances:
Year: 2004 PMID: 15279794 DOI: 10.1016/j.dnarep.2004.04.005
Source DB: PubMed Journal: DNA Repair (Amst) ISSN: 1568-7856