title: Genomic organization of the human complex I 13-kDa subunit gene NDUFA5.
abstract: We have characterized the human gene NDUFA5 encoding a 13-kDa subunit of the mitochondrial respiratory chain complex I (NADH: ubiquinone oxidoreductase). The gene contains 5 exons and 4 introns, and spans 14 kb of genomic DNA. In the untranscribed region we observed potential transcription factor binding sites. We determined a single nucleotide variant (C/T) at -318, and its frequency in the German population. The functional gene was localised by FISH to 7q31 and by radiation hybrid panel near marker D7S648 in YAC 883_a_2.
authors.affiliation: Institute of Molecular and Cell Biology, Tartu University, Estonian Biocentre, Tartu, Estonia.
authors.forename: K
authors.initials: K
authors.lastname: Tensing
authors.forename: I
authors.initials: I
authors.lastname: Pata
authors.forename: I
authors.initials: I
authors.lastname: Wittig
authors.forename: M
authors.initials: M
authors.lastname: Wehnert
authors.forename: A
authors.initials: A
authors.lastname: Metspalu
mesh_terms: D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D006224:Cricetinae; D004247:DNA / Q000235:genetics; D042967:Electron Transport Complex I / Q000235:genetics*; D005091:Exons; D005787:Gene Frequency; D005809:Genes, Regulator; D005819:Genetic Markers; D014644:Genetic Variation; D006801:Humans; D006822:Hybrid Cells; D017404:In Situ Hybridization, Fluorescence; D007438:Introns; D008969:Molecular Sequence Data; D008970:Molecular Weight; D016660:NAD(P)H Dehydrogenase (Quinone) / Q000737:chemistry / Q000235:genetics*; D009245:NADH Dehydrogenase
chemical_list: D005819:Genetic Markers; C508060:NDUFA5 protein, human; D004247:DNA; D016660:NAD(P)H Dehydrogenase (Quinone); D009245:NADH Dehydrogenase; D042967:Electron Transport Complex I