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

被引：365

作者：

Xia, Bing

Dorsman, Josephine C.

Ameziane, Najim

de Vries, Yne

Rooimans, Martin A.

Sheng, Qing

Pals, Gerard

Errami, Abdellatif

Gluckman, Eliane

Llera, Julian

Wang, Weidong

Livingston, David M.

Joenje, Hans

de Winter, Johan P.

机构：

[1] Vrije Univ Amsterdam Med Ctr, Dept Clin Genet, NL-1081 BT Amsterdam, Netherlands

[2] Dana Farber Canc Inst, Boston, MA 02115 USA

[3] Harvard Univ, Sch Med, Boston, MA 02115 USA

[4] MRC Holland BV, NL-1057 SN Amsterdam, Netherlands

[5] Hop St Louis, Bone Marrow Transplant Unit, F-75475 Paris 10, France

[6] Hosp Italiano Buenos Aires, Dept Pediat, Buenos Aires, DF, Argentina

[7] NIA, Genet Lab, US Natl Inst Hlth, Baltimore, MD 21224 USA

来源：

NATURE GENETICS | 2007年 / 39卷 / 02期

关键词：

D O I：

10.1038/ng1942

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：159 / 161

页数：3

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