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Fanconi anemia (FA) is a heritable human cancer-susceptibility disorder, delineating a genetically heterogenous pathway for the repair of replication-blocking lesions such as interstrand DNA cross-links. Here we demonstrate that one component of this pathway, FANCJ, is a structure-specific DNA helicase that dissociates guanine quadruplex DNA (G4 DNA) in vitro. Moreover, in contrast with previously identified G4 DNA helicases, such as the Bloom's helicase (BLM), FANCJ unwinds G4 substrates with 5'-3' polarity. In the FA-J human patient cell line EUFA0030 the loss of FANCJ G4 unwinding function correlates with the accumulation of large genomic deletions in the vicinity of sequences, which match the G4 DNA signature. Together these findings support a role for FANCJ in the maintenance of potentially unstable genomic G/C tracts during replication.

Original publication




Journal article


J Biol Chem

Publication Date





36132 - 36139


Basic-Leucine Zipper Transcription Factors, Binding, Competitive, Cell Line, Cell Line, Tumor, Cross-Linking Reagents, DNA Helicases, DNA Replication, Fanconi Anemia Complementation Group Proteins, G-Quadruplexes, Gene Deletion, Genetic Predisposition to Disease, Genome, Humans, Nucleic Acid Conformation, Nucleic Acid Hybridization, RecQ Helicases