Positional cloning of a novel fanconi anemia gene, FANCD2

被引：310

作者：

Timmers, C

Taniguchi, T

Hejna, J

Reifsteck, C

Lucas, L

Bruun, D

Thayer, M

Cox, B

Olson, S

D'Andrea, AD

Moses, R

Grompe, M ^{[1
]}

机构：

[1] Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Portland, OR 97201 USA

[2] Oregon Hlth & Sci Univ, Vollum Inst, Portland, OR 97201 USA

[3] Oregon Hlth & Sci Univ, Dept Pediat, Portland, OR 97201 USA

[4] Harvard Univ, Sch Med, Dana Farber Canc Inst, Boston, MA 02115 USA

来源：

MOLECULAR CELL | 2001年 / 7卷 / 02期

关键词：

D O I：

10.1016/S1097-2765(01)00172-1

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Fanconi anemia (FA) is a genetic disease with birth defects, bone marrow failure, and cancer susceptibility. To date, genes for five of the seven known complementation groups have been cloned. Complementation group D is heterogeneous, consisting of two distinct genes, FANCD1 and FANCD2. Here we report the positional cloning of FANCD2. The gene consists of 44 exons, encodes a novel 1451 amino acid nuclear protein, and has two protein isoforms. Similar to other FA proteins, the FANCD2 protein has no known functional domains, but unlike other known FA genes, FANCD2 is highly conserved in A. thaliana, C. elegans, and Drosophila. Retroviral transduction of the cloned FANCD2 cDNA into FA-D2 cells resulted in functional complementation of MMC sensitivity.

引用

页码：241 / 248

页数：8

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