The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J
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DOI：
10.1038/ng1625
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发表时间：
2005-09-01
期刊：
影响因子：
30.8
通讯作者：
Joenje, H
中科院分区：
文献类型：
--
作者：
Levitus, M;Waisfisz, Q;Joenje, H
在Fanconi贫血互补J组(FA-J)个体中预测有缺陷的蛋白FANCJ，是基因组维持的Fanconi贫血途径中缺失的成分。在这里，我们发现了8名患有FA-J的人的致病突变，该基因编码Deah-box DNA解旋酶BRIP1，也称为FANCJ。这一发现是范可尼贫血途径通过与DNA直接物理相互作用发挥作用的有力证据。
The protein predicted to be defective in individuals with Fanconi anemia complementation group J ( FA- J), FANCJ, is a missing component in the Fanconi anemia pathway of genome maintenance. Here we identify pathogenic mutations in eight individuals with FA- J in the gene encoding the DEAH- box DNA helicase BRIP1, also called FANCJ. This finding is compelling evidence that the Fanconi anemia pathway functions through a direct physical interaction with DNA.