Fanconi anemia: At the crossroads of DNA repair

J. S. Deakyne, A. V. Mazin

Research output: Contribution to journalReview articlepeer-review

23 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)36-48
Number of pages13
JournalBiochemistry (Moscow)
Volume76
Issue number1
DOIs
StatePublished - Jan 2011
Externally publishedYes

Keywords

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

ASJC Scopus subject areas

  • Biochemistry

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