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. 2011 Feb;43(2):138-41.
doi: 10.1038/ng.751. Epub 2011 Jan 16.

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

Chantal Stoepker  1 , 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
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SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype

Chantal Stoepker et al. Nat Genet. 2011 Feb.

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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