Fanconi anemia is associated with a defect in the BRCA2 partner PALB2.
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.
Xia
Bing
B
Dana-Farber Cancer Institute and Harvard Medical School, 44 Binney Street, Boston, Massachusetts 02115, USA.
Dorsman
Josephine C
JC
Ameziane
Najim
N
de Vries
Yne
Y
Rooimans
Martin A
MA
Sheng
Qing
Q
Pals
Gerard
G
Errami
Abdellatif
A
Gluckman
Eliane
E
Llera
Julian
J
Wang
Weidong
W
Livingston
David M
DM
Joenje
Hans
H
de Winter
Johan P
JP
D024682:BRCA2 Protein / Q000502:physiology*; D001943:Breast Neoplasms / Q000235:genetics*; D005199:Fanconi Anemia / Q000235:genetics*; D000076164:Fanconi Anemia Complementation Group N Protein; D051856:Fanconi Anemia Complementation Group Proteins / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics / Q000502:physiology*; D025521:Tumor Suppressor Proteins / Q000235:genetics / Q000502:physiology*
D024682:BRCA2 Protein; D000076164:Fanconi Anemia Complementation Group N Protein; D051856:Fanconi Anemia Complementation Group Proteins; D009687:Nuclear Proteins; C512790:PALB2 protein, human; D025521:Tumor Suppressor Proteins