Abstract
The molecular mechanisms by which the nuclear genome regulates the biosynthesis of mitochondrial DNA (mtDNA) are only beginning to be unravelled. A naturally occurring in vivo model for a defect in this cross-talk of two physically separate genomes is a human disease, an autosomal dominant progressive external ophthalmoplegia, in which multiple deletions of mtDNA accumulate in the patients' tissues. The assignment of this disease locus to 10q 23.3-24.3 is the first direct evidence for involvement of both nuclear and mitochondrial genomes in a single disorder.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Base Sequence
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Causality
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Chromosome Aberrations / epidemiology
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Chromosome Aberrations / genetics
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Chromosome Disorders
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Chromosome Mapping
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Chromosomes, Human, Pair 10*
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DNA, Mitochondrial / genetics*
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DNA-Binding Proteins / genetics
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Female
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Gene Deletion
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Genetic Heterogeneity
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Genetic Markers
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Humans
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Male
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Mitochondrial Proteins*
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Molecular Sequence Data
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Nuclear Proteins*
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Ophthalmoplegia, Chronic Progressive External / genetics*
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Pedigree
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Transcription Factors / genetics
Substances
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DNA, Mitochondrial
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DNA-Binding Proteins
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Genetic Markers
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Mitochondrial Proteins
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Nuclear Proteins
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TFAM protein, human
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Transcription Factors
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mitochondrial transcription factor A