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

I Nelson; L d'Auriol; F Galibert; G Ponsot; P Lestienne

[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]

Authors

I Nelson¹, L d'Auriol, F Galibert, G Ponsot, P Lestienne

Affiliation

¹ Unité 298 I.N.S.E.R.M., C.H.R.U. Angers.

PMID: 2514965

Abstract

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

Substances

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