Fanconi anemia: at the Crossroads of DNA repair |
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Authors: | J S Deakyne A V Mazin |
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Institution: | Department of Biochemistry and Molecular Biology, Drexel University College of Medicine, Philadelphia, Pennsylvania 19102, USA. |
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Abstract: | Fanconi anemia (FA) is an autosomal disorder that causes genome instability. FA patients suffer developmental abnormalities,
early-onset bone marrow failure, and a predisposition to cancer. The disease is manifested by defects in DNA repair, hypersensitivity
to DNA crosslinking agents, and a high degree of chromosomal aberrations. The FA pathway comprises 13 disease-causing genes
involved in maintaining genomic stability. The fast pace of study of the novel DNA damage network has led to the constant
discovery of new FA-like genes involved in the pathway that when mutated lead to similar disorders. A majority of the FA proteins
act as signal transducers and scaffolding proteins to employ other pathways to repair DNA. This review discusses what is known
about the FA proteins and other recently linked FA-like proteins. The goal is to clarify how the proteins work together to
carry out interstrand crosslink repair and homologous recombination-mediated repair of damaged DNA. |
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