An autosomal locus predisposing to deletions of mitochondrial DNA - PubMed (original) (raw)
An autosomal locus predisposing to deletions of mitochondrial DNA
A Suomalainen et al. Nat Genet. 1995 Feb.
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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