Fanconi anemia is associated with a defect in the BRCA2 partner PALB2

B Xia, JC Dorsman, N Ameziane, Y De Vries… - Nature …, 2007 - nature.com
B Xia, JC Dorsman, N Ameziane, Y De Vries, MA Rooimans, Q Sheng, G Pals, A Errami…
Nature genetics, 2007nature.com
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.
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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