title: [Nucleotide mapping and a kinetic model of a heteroplasmic deletion of 4,666 base pairs from mitochondrial DNA in the Kearns-Sayre syndrome].
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.
authors.affiliation: Unité 298 I.N.S.E.R.M., C.H.R.U. Angers.
authors.forename: I
authors.initials: I
authors.lastname: Nelson
authors.forename: L
authors.initials: L
authors.lastname: d'Auriol
authors.forename: F
authors.initials: F
authors.lastname: Galibert
authors.forename: G
authors.initials: G
authors.lastname: Ponsot
authors.forename: P
authors.initials: P
authors.lastname: Lestienne
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002872:Chromosome Deletion; D003001:Cloning, Molecular; D004272:DNA, Mitochondrial / Q000235:genetics*; D004259:DNA-Directed DNA Polymerase; D005784:Gene Amplification; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000235:genetics*; D008957:Models, Genetic; D008969:Molecular Sequence Data; D009245:NADH Dehydrogenase / Q000235:genetics; D009710:Nucleotide Mapping; D009886:Ophthalmoplegia / Q000235:genetics*; D006180:Proton-Translocating ATPases / Q000235:genetics; D019914:Taq Polymerase
chemical_list: D004272:DNA, Mitochondrial; D009245:NADH Dehydrogenase; D019914:Taq Polymerase; D004259:DNA-Directed DNA Polymerase; D006180:Proton-Translocating ATPases
vernacular_title: Identification nucléotidique et modèle cinétique d'une délétion hétéroplasmique de 4,666 paires de bases de l'ADN mitochondrial dans le syndrome de Kearns-Sayre.