[Nucleotide mapping and a kinetic model of a heteroplasmic deletion of 4,666 base pairs from mitochondrial DNA in the Kearns-Sayre syndrome]

C R Acad Sci III. 1989;309(10):403-7.
[Article in French]


We report the nucleotidic mapping of a 4,666 base pairs deletion of the human mitochondrial DNA localized at positions 8571 and 13237 in a Kearns-Sayre syndrome patient. The gene fusion between the 15 N terminal amino acid residues of ATP synthetase subunit 6 and the 303 C terminal aminoacids of NADH dehydrogenase yields a potential protein of 35,000 d MW called A6-ND5. Deletion boundaries show a short inverted repeat ATCXTA. The heteroplasmic deletion mechanism is discussed in view of these data.

Publication types

  • English Abstract

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Chromosome Deletion*
  • Cloning, Molecular
  • DNA, Mitochondrial / genetics*
  • DNA-Directed DNA Polymerase
  • Gene Amplification
  • Humans
  • Kearns-Sayre Syndrome / genetics*
  • Models, Genetic
  • Molecular Sequence Data
  • NADH Dehydrogenase / genetics
  • Nucleotide Mapping
  • Ophthalmoplegia / genetics*
  • Proton-Translocating ATPases / genetics
  • Taq Polymerase


  • DNA, Mitochondrial
  • NADH Dehydrogenase
  • Taq Polymerase
  • DNA-Directed DNA Polymerase
  • Proton-Translocating ATPases