An autosomal locus predisposing to deletions of mitochondrial DNA

Nat Genet. 1995 Feb;9(2):146-51. doi: 10.1038/ng0295-146.


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

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Causality
  • Chromosome Aberrations / epidemiology
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Chromosome Mapping
  • Chromosomes, Human, Pair 10*
  • DNA, Mitochondrial / genetics*
  • DNA-Binding Proteins / genetics
  • Female
  • Gene Deletion
  • Genetic Heterogeneity
  • Genetic Markers
  • Humans
  • Male
  • Mitochondrial Proteins*
  • Molecular Sequence Data
  • Nuclear Proteins*
  • Ophthalmoplegia, Chronic Progressive External / genetics*
  • Pedigree
  • Transcription Factors / genetics


  • DNA, Mitochondrial
  • DNA-Binding Proteins
  • Genetic Markers
  • Mitochondrial Proteins
  • Nuclear Proteins
  • TFAM protein, human
  • Transcription Factors
  • mitochondrial transcription factor A

Grant support