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    Nat Genet. 2005 Sep;37(9):934-5. Epub 2005 Aug 21.

    The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.

    Source

    Department of Clinical Genetics and Human Genetics, VU University Medical Center, Van der Boechorststraat 7, NL-1081 BT Amsterdam, The Netherlands.

    Abstract

    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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    PMID:
    16116423
    [PubMed - indexed for MEDLINE]

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