Isolation of a cDNA representing the Fanconi anemia complementation group E gene

被引：174

作者：

de Winter, JP

Léveillé, F

van Berkel, CGM

Rooimans, MA

van der Weel, L

Steltenpool, J

Demuth, I

Morgan, NV

Alon, N

Bosnoyan-Collins, L

Lightfoot, J

Leegwater, PA

Waisfisz, Q

Komatsu, K

Arwert, F

Pronk, JC

Mathew, CG

Digweed, M

Buchwald, M

Joenje, H

机构：

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

[2] Free Univ Amsterdam, Med Ctr, Dept Clin Chem, NL-1081 BT Amsterdam, Netherlands

[3] Humboldt Univ, Charite, Inst Human Genet, Berlin, Germany

[4] Guys Hosp, GKT Sch Med, Div Med & Mol Genet, London SE1 9RT, England

[5] Hosp Sick Children, Program Genet & Genom Biol, Toronto, ON M5G 1X8, Canada

[6] Univ Toronto, Dept Mol & Med Genet, Toronto, ON, Canada

[7] Hiroshima Univ, Res Inst Radiat Biol & Med, Dept Radiat Biol, Hiroshima, Japan

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2000年 / 67卷 / 05期

关键词：

D O I：

10.1016/S0002-9297(07)62959-0

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Fanconi anemia (FA) is an autosomal recessive chromosomal instability syndrome with at least seven different complementation groups, Four FA genes (FANCA, FANCC, FANCF, and FANCG) have been identified, and two other FA genes (FANCD and FANCE) have been mapped. Here we report the identification, by complementation cloning, of the gene mutated in FA complementation group E (FANCE), FANCE has 10 exons and encodes a novel 536-amino acid protein with two potential nuclear localization signals.

引用

页码：1306 / 1308

页数：3

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