Frataxin gene of Friedreich's ataxia is targeted to mitochondria.
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-diquinolizin o-8H-xanthylium chloride (CMXRos), a novel mitochondrial dye. Thus, frataxin appears to be a nuclear-encoded mitochondrial protein.
Priller
J
J
Neurology Service, Massachusetts General Hospital and Harvard Medical School, Boston 02114, USA.
Scherzer
C R
CR
Faber
P W
PW
MacDonald
M E
ME
Young
A B
AB
D000818:Animals; D019556:COS Cells; D005621:Friedreich Ataxia / Q000201:enzymology / Q000235:genetics*; D049452:Green Fluorescent Proteins; D006801:Humans; D007438:Introns; D033862:Iron-Binding Proteins; D008164:Luminescent Proteins / Q000096:biosynthesis; D008928:Mitochondria / Q000201:enzymology*; D015388:Organelles / Q000378:metabolism; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000096:biosynthesis* / Q000235:genetics*; D011993:Recombinant Fusion Proteins / Q000096:biosynthesis; D013385:Succinate Dehydrogenase / Q000096:biosynthesis; D014162:Transfection; D018911:Trinucleotide Repeats; D000096923:Frataxin
D049452:Green Fluorescent Proteins; D033862:Iron-Binding Proteins; D008164:Luminescent Proteins; D017853:Phosphotransferases (Alcohol Group Acceptor); D011993:Recombinant Fusion Proteins; D013385:Succinate Dehydrogenase; D000096923:Frataxin