REVIEW: Fanconi Anemia: at the Crossroads of DNA Repair

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J. S. Deakyne¹ and A. V. Mazin^1,2*

¹Department of Biochemistry and Molecular Biology, Drexel University College of Medicine, 245 N 15th Street, MS 497, NCB, Room 10103, Philadelphia, Pennsylvania 19102, USA; fax: 215-762-4452; E-mail: amazin@drexelmed.edu

²Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia

^* To whom correspondence should be addressed.

Received August 26, 2010; Revision received September 27, 2010

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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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KEY WORDS: Fanconi anemia, DNA damage response, homologous recombination, DNA crosslinks, Holliday junctions, BRCA1, BRCA2, DNA double-strand break repair

DOI: 10.1134/S0006297911010068

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