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.
Publication types
-
Research Support, N.I.H., Extramural
-
Research Support, N.I.H., Intramural
-
Research Support, Non-U.S. Gov't
-
Research Support, U.S. Gov't, Non-P.H.S.
MeSH terms
-
BRCA2 Protein / physiology*
-
Breast Neoplasms / genetics*
-
Fanconi Anemia / genetics*
-
Fanconi Anemia Complementation Group N Protein
-
Fanconi Anemia Complementation Group Proteins / genetics
-
Genetic Predisposition to Disease
-
Humans
-
Mutation
-
Nuclear Proteins / genetics
-
Nuclear Proteins / physiology*
-
Tumor Suppressor Proteins / genetics
-
Tumor Suppressor Proteins / physiology*
Substances
-
BRCA2 Protein
-
Fanconi Anemia Complementation Group N Protein
-
Fanconi Anemia Complementation Group Proteins
-
Nuclear Proteins
-
PALB2 protein, human
-
Tumor Suppressor Proteins