SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype

Chantal Stoepker, Karolina Hain, Beatrice Schuster, Yvonne Hilhorst-Hofstee, Martin A. Rooimans, Jurgen Steltenpool, Anneke B. Oostra, Katharina Eirich, Elisabeth T. Korthof, Aggie W. M. Nieuwint, Nicolaas G. J. Jaspers, Thomas Bettecken, Hans Joenje, Detlev Schindler (Lead / Corresponding author), John Rouse (Lead / Corresponding author), Johan P. de Winter (Lead / Corresponding author)

    Research output: Contribution to journalArticle

    205 Citations (Scopus)

    Abstract

    DNA interstrand crosslink repair requires several classes of proteins, including structure-specific endonucleases and Fanconi anemia proteins. SLX4, which coordinates three separate endonucleases, was recently recognized as an important regulator of DNA repair. Here we report the first human individuals found to have biallelic mutations in SLX4. These individuals, who were previously diagnosed as having Fanconi anemia, add SLX4 as an essential component to the FA-BRCA genome maintenance pathway.

    Original languageEnglish
    Pages (from-to)138-U85
    Number of pages6
    JournalNature Genetics
    Volume43
    Issue number2
    DOIs
    Publication statusPublished - Feb 2011

    Cite this

    Stoepker, C., Hain, K., Schuster, B., Hilhorst-Hofstee, Y., Rooimans, M. A., Steltenpool, J., ... de Winter, J. P. (2011). SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype. Nature Genetics, 43(2), 138-U85. https://doi.org/10.1038/ng.751
    Stoepker, Chantal ; Hain, Karolina ; Schuster, Beatrice ; Hilhorst-Hofstee, Yvonne ; Rooimans, Martin A. ; Steltenpool, Jurgen ; Oostra, Anneke B. ; Eirich, Katharina ; Korthof, Elisabeth T. ; Nieuwint, Aggie W. M. ; Jaspers, Nicolaas G. J. ; Bettecken, Thomas ; Joenje, Hans ; Schindler, Detlev ; Rouse, John ; de Winter, Johan P. / SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype. In: Nature Genetics. 2011 ; Vol. 43, No. 2. pp. 138-U85.
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    abstract = "DNA interstrand crosslink repair requires several classes of proteins, including structure-specific endonucleases and Fanconi anemia proteins. SLX4, which coordinates three separate endonucleases, was recently recognized as an important regulator of DNA repair. Here we report the first human individuals found to have biallelic mutations in SLX4. These individuals, who were previously diagnosed as having Fanconi anemia, add SLX4 as an essential component to the FA-BRCA genome maintenance pathway.",
    author = "Chantal Stoepker and Karolina Hain and Beatrice Schuster and Yvonne Hilhorst-Hofstee and Rooimans, {Martin A.} and Jurgen Steltenpool and Oostra, {Anneke B.} and Katharina Eirich and Korthof, {Elisabeth T.} and Nieuwint, {Aggie W. M.} and Jaspers, {Nicolaas G. J.} and Thomas Bettecken and Hans Joenje and Detlev Schindler and John Rouse and {de Winter}, {Johan P.}",
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    Stoepker, C, Hain, K, Schuster, B, Hilhorst-Hofstee, Y, Rooimans, MA, Steltenpool, J, Oostra, AB, Eirich, K, Korthof, ET, Nieuwint, AWM, Jaspers, NGJ, Bettecken, T, Joenje, H, Schindler, D, Rouse, J & de Winter, JP 2011, 'SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype', Nature Genetics, vol. 43, no. 2, pp. 138-U85. https://doi.org/10.1038/ng.751

    SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype. / Stoepker, Chantal; Hain, Karolina; Schuster, Beatrice; Hilhorst-Hofstee, Yvonne; Rooimans, Martin A.; Steltenpool, Jurgen; Oostra, Anneke B.; Eirich, Katharina; Korthof, Elisabeth T.; Nieuwint, Aggie W. M.; Jaspers, Nicolaas G. J.; Bettecken, Thomas; Joenje, Hans; Schindler, Detlev (Lead / Corresponding author); Rouse, John (Lead / Corresponding author); de Winter, Johan P. (Lead / Corresponding author).

    In: Nature Genetics, Vol. 43, No. 2, 02.2011, p. 138-U85.

    Research output: Contribution to journalArticle

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    AU - Korthof, Elisabeth T.

    AU - Nieuwint, Aggie W. M.

    AU - Jaspers, Nicolaas G. J.

    AU - Bettecken, Thomas

    AU - Joenje, Hans

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    AU - de Winter, Johan P.

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    AB - DNA interstrand crosslink repair requires several classes of proteins, including structure-specific endonucleases and Fanconi anemia proteins. SLX4, which coordinates three separate endonucleases, was recently recognized as an important regulator of DNA repair. Here we report the first human individuals found to have biallelic mutations in SLX4. These individuals, who were previously diagnosed as having Fanconi anemia, add SLX4 as an essential component to the FA-BRCA genome maintenance pathway.

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    Stoepker C, Hain K, Schuster B, Hilhorst-Hofstee Y, Rooimans MA, Steltenpool J et al. SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype. Nature Genetics. 2011 Feb;43(2):138-U85. https://doi.org/10.1038/ng.751