SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype
SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype
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DOI：
10.1038/ng.751
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发表时间：
2011-02-01
期刊：
影响因子：
30.8
通讯作者：
de Winter, Johan P.
中科院分区：
文献类型：
--
作者：
Stoepker, Chantal;Hain, Karolina;de Winter, Johan P.
DNA 链间交联修复需要几类蛋白质，包括结构特异性核酸内切酶和范可尼贫血蛋白。 SLX4 协调三种独立的核酸内切酶，最近被认为是 DNA 修复的重要调节因子。在这里，我们报告了第一批发现 SLX4 具有双等位基因突变的人类个体。这些先前被诊断患有范可尼贫血的个体将 SLX4 添加为 FA-BRCA 基因组维持途径的重要组成部分。
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.