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

Marieke Levitus, Quinten Waisfisz, Barbara C. Godthelp, Yne de Vries, Shobbir Hussain, Wouter W. Wiegant, Elhaam Elghalbzouri-Maghrani, Jûrgen Steltenpool, Martin A. Rooimans, Gerard Pals, Fré Arwert, Christopher G. Mathew, Małgorzata Z. Zdzienicka, Kevin Hiom, Johan P. De Winter, Hans Joenje (Lead / Corresponding author)

    Research output: Contribution to journalArticlepeer-review

    355 Citations (Scopus)

    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.

    Original languageEnglish
    Pages (from-to)934-935
    Number of pages2
    JournalNature Genetics
    Volume37
    Issue number9
    DOIs
    Publication statusPublished - Sep 2005

    Keywords

    • Chromosomes, Human, Pair 17
    • DNA-binding proteins
    • Fanconi anemia
    • Genetic complementation test
    • Humans
    • Microsatellite repeats
    • Molecular sequence data
    • Mutation
    • RNA helicases
    • Sequence deletion

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