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 journalArticle

    339 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

    Fingerprint

    DNA Helicases
    Fanconi Anemia
    Maintenance
    Genome
    Mutation
    DNA
    Genes
    Proteins
    Complementation Group J Fanconi Anemia

    Keywords

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

    Cite this

    Levitus, M., Waisfisz, Q., Godthelp, B. C., de Vries, Y., Hussain, S., Wiegant, W. W., ... Joenje, H. (2005). The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. Nature Genetics, 37(9), 934-935. https://doi.org/10.1038/ng1625
    Levitus, Marieke ; Waisfisz, Quinten ; Godthelp, Barbara C. ; de Vries, Yne ; Hussain, Shobbir ; Wiegant, Wouter W. ; Elghalbzouri-Maghrani, Elhaam ; Steltenpool, Jûrgen ; Rooimans, Martin A. ; Pals, Gerard ; Arwert, Fré ; Mathew, Christopher G. ; Zdzienicka, Małgorzata Z. ; Hiom, Kevin ; De Winter, Johan P. ; Joenje, Hans. / The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. In: Nature Genetics. 2005 ; Vol. 37, No. 9. pp. 934-935.
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    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.",
    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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    Levitus, M, Waisfisz, Q, Godthelp, BC, de Vries, Y, Hussain, S, Wiegant, WW, Elghalbzouri-Maghrani, E, Steltenpool, J, Rooimans, MA, Pals, G, Arwert, F, Mathew, CG, Zdzienicka, MZ, Hiom, K, De Winter, JP & Joenje, H 2005, 'The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J', Nature Genetics, vol. 37, no. 9, pp. 934-935. https://doi.org/10.1038/ng1625

    The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. / Levitus, Marieke; Waisfisz, Quinten; Godthelp, Barbara C.; de Vries, Yne; Hussain, Shobbir; Wiegant, Wouter W.; Elghalbzouri-Maghrani, Elhaam; Steltenpool, Jûrgen; Rooimans, Martin A.; Pals, Gerard; Arwert, Fré; Mathew, Christopher G.; Zdzienicka, Małgorzata Z.; Hiom, Kevin; De Winter, Johan P.; Joenje, Hans (Lead / Corresponding author).

    In: Nature Genetics, Vol. 37, No. 9, 09.2005, p. 934-935.

    Research output: Contribution to journalArticle

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    Levitus M, Waisfisz Q, Godthelp BC, de Vries Y, Hussain S, Wiegant WW et al. The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. Nature Genetics. 2005 Sep;37(9):934-935. https://doi.org/10.1038/ng1625