| Literature DB >> 17200672 |
Bing Xia1, Josephine C Dorsman, Najim Ameziane, Yne de Vries, Martin A Rooimans, Qing Sheng, Gerard Pals, Abdellatif Errami, Eliane Gluckman, Julian Llera, Weidong Wang, David M Livingston, Hans Joenje, Johan P de Winter.
Abstract
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.Entities:
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Year: 2006 PMID： 17200672 DOI： 10.1038/ng1942
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330