RESUMO
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.
Assuntos
Complexo I de Transporte de Elétrons/genética , NAD(P)H Desidrogenase (Quinona)/genética , Animais , Sequência de Bases , Mapeamento Cromossômico , Cromossomos Artificiais de Levedura/genética , Cromossomos Humanos Par 7/genética , Cricetinae , DNA/genética , Éxons , Frequência do Gene , Genes Reguladores , Marcadores Genéticos , Variação Genética , Humanos , Células Híbridas , Hibridização in Situ Fluorescente , Íntrons , Dados de Sequência Molecular , Peso Molecular , NAD(P)H Desidrogenase (Quinona)/química , NADH DesidrogenaseRESUMO
A cDNA encoding the human homologue of bovine NADH:ubiquinone oxidoreductase (complex I of mitochondrial respiratory chain) subunit B13 has been isolated. The clone contains an open reading frame of 348 bp, 23 bp of 5'-untranslated sequence (UTR) and a long 3'UTR of 1088 bp. The deduced amino-acid sequence is 87% identical to bovine B13. Human B13 mRNA expression was observed in all tissues examined with highest levels in heart, skeletal muscle and brain. Southern analysis of human genomic DNA revealed the presence of multigene family.
