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

Bing Xia, Josephine C. Dorsman, Najim Ameziane, Yne De Vries, Martin A. Rooimans, Qing Sheng, Gerard Pals, Abdellatif Errami, Eliane Gluckman, Julian Llera, Weidong Wang, David M. Livingston, Hans Joenje, Johan P. De Winter

Research output: Contribution to journalArticlepeer-review

351 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)159-161
Number of pages3
JournalNature Genetics
Volume39
Issue number2
DOIs
StatePublished - Feb 2007
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics

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