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.
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Suomalainen, A., Kaukonen, J., Amati, P. et al. An autosomal locus predisposing to deletions of mitochondrial DNA. Nat Genet 9, 146–151 (1995). https://doi.org/10.1038/ng0295-146
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DOI: https://doi.org/10.1038/ng0295-146
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