Article
Fanconi anemia is associated with a defect in the BRCA2 partner PALB2.
Nature genetics - 1 Feb 2007
Xia Bing, Dorsman Josephine C, Ameziane Najim, de Vries Yne, Rooimans Martin A, Sheng Qing, Pals Gerard, Errami Abdellatif, Gluckman Eliane, Llera Julian, Wang Weidong, Livingston David M, Joenje Hans, de Winter Johan P
Abstract excerpt
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...
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