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Fanconi anemia is associated with a defect in the BRCA2 partner PALB2 |
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| Authors: | 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 |
| Affiliation: | Dana-Farber Cancer Institute and Harvard Medical School, 44 Binney Street, Boston, Massachusetts 02115, USA. |
| 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. |
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