The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J

被引：344

作者：

Levitus, M

Waisfisz, Q

Godthelp, BC

de Vries, Y

Hussain, S

Wiegant, WW

Elghalbzouri-Maghrani, E

Steltenpool, J

Rooimans, MA

Pals, G

Arwert, F

Mathew, CG

Zdzienicka, MZ

Hiom, K

De Winter, JP

Joenje, H

机构：

[1] Vrije Univ Amsterdam Med Ctr, Dept Clin Genet & Human Genet, NL-1081 BT Amsterdam, Netherlands

[2] Leiden Univ, Med Ctr, Dept Toxicogenet, NL-2333 AL Leiden, Netherlands

[3] Kings Coll London, Guys Hosp, Div Med & Mol Genet, London, England

[4] Nicholas Copernicus Univ, Coll Med L Rydygier, Dept Mol Cell Genet, Bydgoszcz, Poland

[5] MRC, Mol Biol Lab, Cambridge CB2 2QH, England

来源：

NATURE GENETICS | 2005年 / 37卷 / 09期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1038/ng1625

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

收藏

页码：934 / 935

页数：2

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