Fanconi anemia is associated with a defect in the BRCA2 partner PALB2
Fanconi anemia is associated with a defect in the BRCA2 partner PALB2
复制标题
DOI：
10.1038/ng1942
复制
发表时间：
2007-02-01
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：
Xia, Bing;Dorsman, Josephine C.;de Winter, Johan P.
Fanconi贫血和BRCA网络被认为是相互关联的，因为在患有Fanconi贫血D1型的个体中发现了BRCA2基因缺陷。在这里，我们发现BRCA2相互作用蛋白PALB2的缺陷与一名新亚型个体的Fanconi贫血有关。PALB2基因缺陷的细胞对交联剂表现出超敏反应，缺乏染色质结合的BRCA2；这些缺陷可通过异位表达PALB2或自发逆转来纠正。
The Fanconi anemia and BRCA networks are considered interconnected, as BRCA2 gene defects have been discovered in individuals with Fanconi anemia subtype D1. Here we show that a defect in the BRCA2- interacting protein PALB2 is associated with Fanconi anemia in an individual with a new subtype. PALB2- deficient cells showed hypersensitivity to cross- linking agents and lacked chromatin- bound BRCA2; these defects were corrected upon ectopic expression of PALB2 or by spontaneous reversion.