The protein predicted to be defective in individuals with Fanconi anemia complementation group J (FA-J), FANCJ, is a missing component in the Fanconi anemia pathway of genome maintenance. Here we identify pathogenic mutations in eight individuals with FA-J in the gene encoding the DEAH-box DNA helicase BRIP1, also called FANCJ. This finding is compelling evidence that the Fanconi anemia pathway functions through a direct physical interaction with DNA.
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We thank the families with Fanconi anemia for cooperating in this study; the treating clinicians (S.E. Ball, R. Barr, J. Burn, L. Pitcher, C. Pellegrini, J.M. Hows and J. Bodurtha) for referring their patients; R.A. Weinberg and B. Klein for providing hTert plasmid; C. van Berkel and E.H. Laghmani for technical assistance; and R. Kanaar for the RAD51C construct. This study was financially supported by the FA Research Fund, the Dutch Cancer Society, the Netherlands Organization for Health Research and Development and the Medical Research Council, UK.
The authors declare no competing financial interests.
FA-J patients and families. (PDF 86 kb)
Candidate-regions for FANCJ. (PDF 73 kb)
Genomic structure of BRIP1/FANCJ. (PDF 116 kb)
FANCJ protein expression in FA-J cell lines. (PDF 226 kb)
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Levitus, M., Waisfisz, Q., Godthelp, B. et al. The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. Nat Genet 37, 934–935 (2005). https://doi.org/10.1038/ng1625
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