title: Sequence and structure of the human OXA1L gene and its upstream elements.
abstract: The genes encoding proteins involved in respiratory chain assembly represent candidate genes for nuclearly-encoded multiple respiratory chain deficiency. Using the long PCR amplification procedure, we have characterized the organization and complete sequence of OXA1L, a gene involved in the assembly of several complexes of the mitochondrial respiratory chain. The OXA1L gene (5 kb) is composed of 10 exons and 9 introns and contains a 24 N-terminal amino-acid stretch is characteristic of a mitochondrial presequence. The screening of OXA1L mutation in patients with multiple respiratory chain deficiency is now feasible.
authors.affiliation: Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERMU393, Hôpital des Enfants Malades, Paris, France.
authors.forename: A
authors.initials: A
authors.lastname: Rötig
authors.forename: B
authors.initials: B
authors.lastname: Parfait
authors.forename: L
authors.initials: L
authors.lastname: Heidet
authors.forename: G
authors.initials: G
authors.lastname: Dujardin
authors.forename: P
authors.initials: P
authors.lastname: Rustin
authors.forename: A
authors.initials: A
authors.lastname: Munnich
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D003001:Cloning, Molecular; D004272:DNA, Mitochondrial / Q000235:genetics* / Q000302:isolation & purification; D004579:Electron Transport / Q000235:genetics*; D003576:Electron Transport Complex IV; D006801:Humans; D024101:Mitochondrial Proteins; D008969:Molecular Sequence Data; D009687:Nuclear Proteins / Q000737:chemistry / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D004272:DNA, Mitochondrial; D024101:Mitochondrial Proteins; D009687:Nuclear Proteins; C090858:OXA1 protein; D003576:Electron Transport Complex IV