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

C Stoepker; K Hain; B Schuster; Y Hilhorst-Hofstee; MA Rooimans; J Steltenpool; AB Oostra; K Eirich; ET Korthof; AWM Nieuwint; Koos Jaspers; T Bettecken; H Joenje; D Schindler; J Rouse; JP (Johan) de Winter

doi:10.1038/ng.751

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

C Stoepker, K Hain, B Schuster, Y Hilhorst-Hofstee, MA Rooimans, J Steltenpool, AB Oostra, K Eirich, ET Korthof, AWM Nieuwint, Koos Jaspers, T Bettecken, H Joenje, D Schindler, J Rouse, JP (Johan) de Winter

Research output: Contribution to journal › Article › Academic › peer-review

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	Undefined/Unknown
Pages (from-to)	138-U85
Journal	Nature Genetics
Volume	43
Issue number	2
DOIs	https://doi.org/10.1038/ng.751
Publication status	Published - 2011

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EMC MGC-01-12-03

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10.1038/ng.751

http://hdl.handle.net/1765/31609

Cite this

Stoepker, C., Hain, K., Schuster, B., Hilhorst-Hofstee, Y., Rooimans, MA., Steltenpool, J., Oostra, AB., Eirich, K., Korthof, ET., Nieuwint, AWM., Jaspers, K., 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, 43(2), 138-U85. https://doi.org/10.1038/ng.751

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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.",

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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, K, 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

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

AU - Stoepker, C

AU - Hain, K

AU - Schuster, B

AU - Hilhorst-Hofstee, Y

AU - Rooimans, MA

AU - Steltenpool, J

AU - Oostra, AB

AU - Eirich, K

AU - Korthof, ET

AU - Nieuwint, AWM

AU - Jaspers, Koos

AU - Bettecken, T

AU - Joenje, H

AU - Schindler, D

AU - Rouse, J

AU - de Winter, JP (Johan)

PY - 2011

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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.

U2 - 10.1038/ng.751

DO - 10.1038/ng.751

M3 - Article

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SN - 1061-4036

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SP - 138-U85

JO - Nature Genetics

JF - Nature Genetics

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