Frataxin gene of Friedreich's ataxia is targeted to mitochondria

J Priller; C R Scherzer; P W Faber; M E MacDonald; A B Young

doi:10.1002/ana.410420222

Frataxin gene of Friedreich's ataxia is targeted to mitochondria

J Priller, C R Scherzer, P W Faber, M E MacDonald, A B Young

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	265-9
Number of pages	5
Journal	Annals of Neurology
Volume	42
Issue number	2
DOIs	https://doi.org/10.1002/ana.410420222
Publication status	Published - Aug 1997

Keywords / Materials (for Non-textual outputs)

Animals
COS Cells
Friedreich Ataxia
Green Fluorescent Proteins
Humans
Introns
Iron-Binding Proteins
Luminescent Proteins
Mitochondria
Organelles
Phosphotransferases (Alcohol Group Acceptor)
Recombinant Fusion Proteins
Succinate Dehydrogenase
Transfection
Trinucleotide Repeats
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

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10.1002/ana.410420222

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title = "Frataxin gene of Friedreich's ataxia is targeted to mitochondria",

abstract = "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.",

keywords = "Animals, COS Cells, Friedreich Ataxia, Green Fluorescent Proteins, Humans, Introns, Iron-Binding Proteins, Luminescent Proteins, Mitochondria, Organelles, Phosphotransferases (Alcohol Group Acceptor), Recombinant Fusion Proteins, Succinate Dehydrogenase, Transfection, Trinucleotide Repeats, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.",

author = "J Priller and Scherzer, {C R} and Faber, {P W} and MacDonald, {M E} and Young, {A B}",

year = "1997",

month = aug,

doi = "10.1002/ana.410420222",

language = "English",

volume = "42",

pages = "265--9",

journal = "Annals of Neurology",

issn = "0364-5134",

publisher = "Wiley",

number = "2",

}

TY - JOUR

T1 - Frataxin gene of Friedreich's ataxia is targeted to mitochondria

AU - Priller, J

AU - Scherzer, C R

AU - Faber, P W

AU - MacDonald, M E

AU - Young, A B

PY - 1997/8

Y1 - 1997/8

N2 - 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.

AB - 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.

KW - Animals

KW - COS Cells

KW - Friedreich Ataxia

KW - Green Fluorescent Proteins

KW - Humans

KW - Introns

KW - Iron-Binding Proteins

KW - Luminescent Proteins

KW - Mitochondria

KW - Organelles

KW - Phosphotransferases (Alcohol Group Acceptor)

KW - Recombinant Fusion Proteins

KW - Succinate Dehydrogenase

KW - Transfection

KW - Trinucleotide Repeats

KW - Journal Article

KW - Research Support, Non-U.S. Gov't

KW - Research Support, U.S. Gov't, P.H.S.

U2 - 10.1002/ana.410420222

DO - 10.1002/ana.410420222

M3 - Article

C2 - 9266741

SN - 0364-5134

VL - 42

SP - 265

EP - 269

JO - Annals of Neurology

JF - Annals of Neurology

IS - 2

ER -

Frataxin gene of Friedreich's ataxia is targeted to mitochondria

Abstract

Keywords / Materials (for Non-textual outputs)

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