期刊
NATURE GENETICS
卷 39, 期 2, 页码 159-161出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng1942
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资金
- Intramural NIH HHS Funding Source: Medline
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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