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; John Rouse; Johan P. de Winter

doi:10.1038/ng.751

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)

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240 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 language	English
Pages (from-to)	138-U85
Number of pages	6
Journal	Nature Genetics
Volume	43
Issue number	2
DOIs	https://doi.org/10.1038/ng.751
Publication status	Published - Feb 2011

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Stoepker, C., Hain, K., Schuster, B., Hilhorst-Hofstee, Y., Rooimans, M. A., Steltenpool, J., Oostra, A. B., Eirich, K., Korthof, E. T., Nieuwint, A. W. M., Jaspers, N. G. J., Bettecken, T., Joenje, H., Schindler, D., Rouse, 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

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

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.}",

year = "2011",

month = feb,

doi = "10.1038/ng.751",

language = "English",

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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

TY - JOUR

T1 - SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype

AU - Stoepker, Chantal

AU - Hain, Karolina

AU - Schuster, Beatrice

AU - Hilhorst-Hofstee, Yvonne

AU - Rooimans, Martin A.

AU - Steltenpool, Jurgen

AU - Oostra, Anneke B.

AU - Eirich, Katharina

AU - Korthof, Elisabeth T.

AU - Nieuwint, Aggie W. M.

AU - Jaspers, Nicolaas G. J.

AU - Bettecken, Thomas

AU - Joenje, Hans

AU - Schindler, Detlev

AU - Rouse, John

AU - de Winter, Johan P.

PY - 2011/2

Y1 - 2011/2

N2 - 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.

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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U2 - 10.1038/ng.751

DO - 10.1038/ng.751

M3 - Article

C2 - 21240277

SN - 1061-4036

VL - 43

SP - 138-U85

JO - Nature Genetics

JF - Nature Genetics

IS - 2

ER -

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

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