Brief Communication abstract
Nature Genetics 39, 159 - 161 (2006)
Published online: 31 December 2006 | doi:10.1038/ng1942
Fanconi anemia is associated with a defect in the BRCA2 partner PALB2
Bing Xia1,7, Josephine C Dorsman2,7, Najim Ameziane2, Yne de Vries2, Martin A Rooimans2, Qing Sheng1, Gerard Pals2, Abdellatif Errami3, Eliane Gluckman4, Julian Llera5, Weidong Wang6, David M Livingston1, Hans Joenje2 & Johan P de Winter2
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.
- Dana-Farber Cancer Institute and Harvard Medical School, 44 Binney Street, Boston, Massachusetts 02115, USA.
- Department of Clinical Genetics, VU Medical Center, Van der Boechorststraat 7, 1081 BT Amsterdam, The Netherlands.
- MRC-Holland BV, Hudsonstraat 68, 1057 SN Amsterdam, The Netherlands.
- Bone Marrow Transplant Unit, Hôpital Saint-Louis, 1 Avenue Claude Vellefaux, 75475 Paris Cedex 10, France.
- Departamento de Pediatria, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.
- Laboratory of Genetics, National Institute on Aging, US National Institutes of Health, 333 Cassell Drive, Baltimore, Maryland 21224, USA.
- These authors contributed equally to this work.
Correspondence to: Johan P de Winter2 e-mail: j.dewinter@vumc.nl
Correspondence to: David M Livingston1 e-mail: David_Livingston@dfci.harvard.edu
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