Frataxin gene of Friedreich's ataxia is targeted to mitochondria

被引：84

作者：

Priller, J

Scherzer, CR

Faber, PW

MacDonald, ME

Young, AB

机构：

[1] MASSACHUSETTS GEN HOSP,NEUROL SERV,BOSTON,MA 02114

[2] HARVARD UNIV,SCH MED,BOSTON,MA

[3] MASSACHUSETTS GEN HOSP,MOL NEUROGENET UNIT,CHARLESTOWN,MA

来源：

ANNALS OF NEUROLOGY | 1997年 / 42卷 / 02期

关键词：

D O I：

10.1002/ana.410420222

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Friedreich's ataxia is caused by a triplet repeat expansion in intron 1, a noncoding region of the frataxin gene (X25). We have generated a chimeric gene composed of the frataxin gene fused with the green fluorescent protein (GFP) gene as a reporter. Transfection of the fusion construct into living COS cells revealed that the frataxin-GFP construct localizes to organelles that double-label with 8-(4'-chloromethyl) phenyl-2,3,5,6,11,12,14,15-octahydro-1H,4H,10H-13H-diquinolizino 8H-xanthylium chloride (CMXRos), a novel mitochondrial dye. Thus, frataxin appears to be a nuclear-encoded mitochondrial protein.

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页码：265 / 269

页数：5

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