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

被引：234

作者：

Stoepker, Chantal ^{[1
]}

Hain, Karolina ^{[2
]}

Schuster, Beatrice ^{[3
]}

Hilhorst-Hofstee, Yvonne ^{[4
]}

Rooimans, Martin A. ^{[1
]}

Steltenpool, Jurgen ^{[1
]}

Oostra, Anneke B. ^{[1
]}

Eirich, Katharina ^{[3
]}

Korthof, Elisabeth T. ^{[4
]}

Nieuwint, Aggie W. M. ^{[1
]}

Jaspers, Nicolaas G. J. ^{[5
]}

Bettecken, Thomas ^{[6
]}

Joenje, Hans ^{[1
]}

Schindler, Detlev ^{[3
]}

Rouse, John ^{[2
]}

de Winter, Johan P. ^{[1
]}

机构：

[1] Vrije Univ Amsterdam Med Ctr, Dept Clin Genet, Amsterdam, Netherlands

[2] Univ Dundee, Coll Life Sci, MRC, Prot Phosphorylat Unit, Dundee, Scotland

[3] Univ Wurzburg, Biozentrum, Dept Human Genet, Wurzburg, Germany

[4] Leiden Univ Med Ctr, Dept Clin Genet, Leiden, Netherlands

[5] Erasmus MC, Dept Genet, Rotterdam, Netherlands

[6] Max Planck Inst Psychiat, Ctr Appl Genotyping Munich, D-80804 Munich, Germany

来源：

NATURE GENETICS | 2011年 / 43卷 / 02期

基金：

英国医学研究理事会;

关键词：

HOLLIDAY JUNCTION RESOLVASE; DNA-REPAIR; ERCC1;

D O I：

10.1038/ng.751

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：138 / U85

页数：6

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