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Biochemistry (Moscow)

, Volume 76, Issue 1, pp 36–48 | Cite as

Fanconi anemia: at the Crossroads of DNA repair

  • J. S. Deakyne
  • A. V. MazinEmail author
Review

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.

Key words

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

Abbreviations

BLM

Bloom’s syndrome helicase

D-loop

displaced loop

FA

Fanconi anemia

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Copyright information

© Pleiades Publishing, Ltd. 2011

Authors and Affiliations

  1. 1.Department of Biochemistry and Molecular BiologyDrexel University College of MedicinePhiladelphiaUSA
  2. 2.Institute of Cytology and GeneticsSiberian Branch of the Russian Academy of SciencesNovosibirskRussia

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