Frataxin gene of Friedreich's ataxia is targeted to mitochondria
1997; Wiley; Volume: 42; Issue: 2 Linguagem: Inglês
10.1002/ana.410420222
ISSN1531-8249
AutoresJosef Priller, Clemens R. Scherzer, Peter W. Faber, Marcy E. MacDonald, Anne B. Yong,
Tópico(s)Endoplasmic Reticulum Stress and Disease
ResumoFriedreich'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-diquinolizin o-8H-xanthylium chloride (CMXRos), a novel mitochondrial dye. Thus, frataxin appears to be a nuclear-encoded mitochondrial protein.
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