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Role of adenine nucleotide translocator 1 in mtDNA maintenance
被引:472
作者:

Kaukonen, J
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机构: Natl Publ Hlth Inst, Dept Human Mol Genet, SF-00300 Helsinki, Finland

Juselius, JK
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机构: Natl Publ Hlth Inst, Dept Human Mol Genet, SF-00300 Helsinki, Finland

Tiranti, V
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机构: Natl Publ Hlth Inst, Dept Human Mol Genet, SF-00300 Helsinki, Finland

Kyttälä, A
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机构: Natl Publ Hlth Inst, Dept Human Mol Genet, SF-00300 Helsinki, Finland

Zeviani, M
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机构: Natl Publ Hlth Inst, Dept Human Mol Genet, SF-00300 Helsinki, Finland

Comi, GP
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机构: Natl Publ Hlth Inst, Dept Human Mol Genet, SF-00300 Helsinki, Finland

Keränen, S
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机构: Natl Publ Hlth Inst, Dept Human Mol Genet, SF-00300 Helsinki, Finland

Peltonen, L
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机构: Natl Publ Hlth Inst, Dept Human Mol Genet, SF-00300 Helsinki, Finland

Suomalainen, A
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机构: Natl Publ Hlth Inst, Dept Human Mol Genet, SF-00300 Helsinki, Finland
机构:
[1] Natl Publ Hlth Inst, Dept Human Mol Genet, SF-00300 Helsinki, Finland
[2] VTT Biotechnol, Espoo, Finland
[3] Natl Neurol Inst C Besta, Dept Neurol Res, Div Biochem & Genet, Milan, Italy
[4] Univ Milan, Osped Maggiore Policlin, Ist Ricovero & Cura Carattere Sci, Ist Clin Neurol,Ctr Dino Ferrari, Milan, Italy
[5] Univ Calif Los Angeles, Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA
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D O I:
10.1126/science.289.5480.782
中图分类号:
O [数理科学和化学];
P [天文学、地球科学];
Q [生物科学];
N [自然科学总论];
学科分类号:
07 ;
0710 ;
09 ;
摘要:
Autosomal dominant progressive external ophthalmoplegia is a rare human disease that shows a Mendelian inheritance pattern, but is characterized by Large-scale mitochondrial DNA (mtDNA) deletions. We have identified two heterozygous missense mutations in the nuclear gene encoding the heart/skeletal muscle isoform of the adenine nucleotide translocator (ANT1) in five families and one sporadic patient. The familiar mutation substitutes a proline for a highly conserved alanine at position 114 in the ANT1 protein. The analogous mutation in yeast caused a respiratory defect. These results indicate that ANT has a role in mtDNA maintenance and that a mitochondrial disease can be caused by a dominant mechanism.
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页码:782 / 785
页数:4
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