Genomic structure of the human NDUFS8 gene coding for the iron-sulfur TYKY subunit of the mitochondrial NADH:ubiquinone oxidoreductase.
The structural organization of the NDUFS8 gene coding for the TYKY subunit of the human mitochondrial NADH:ubiquinone oxidoreductase (Complex I) has been determined by sequencing of a genomic fragment cloned from a cosmid library. The NDUFS8 gene is located on chromosome 11q13 immediately downstream of the ALDH7 isoform gene. It spans about 6kb and contains seven exons ranging in size from 51 to 186bp. Three CCAAT box sequence motifs are present upstream of the transcription start. Sp1 and NRF1 binding site motifs are present in the first intron. Expression of the gene is ubiquitous but predominant in heart and skeletal muscle. Immunodetection of the TYKY subunit in placental mitochondria after two-dimensional gel electrophoresis revealed that the mature protein has a molecular mass of 22kDa and a pI in the range of 4.9-5.0.
Laboratoire BECP/EA 2019, DBMS, CEA, 17 rue des Martyrs, 38054, Grenoble, cedex 9, France.
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R
de Sury
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P
Martinez
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V
Procaccio
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Lunardi
J P
JP
Issartel
D001483:Base Sequence; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D003001:Cloning, Molecular; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000235:genetics / Q000302:isolation & purification; D042967:Electron Transport Complex I; D005091:Exons / Q000235:genetics; D015870:Gene Expression / Q000235:genetics; D005796:Genes / Q000235:genetics*; D006801:Humans; D015151:Immunoblotting; D007438:Introns / Q000235:genetics; D007506:Iron-Sulfur Proteins / Q000032:analysis / Q000235:genetics*; D008928:Mitochondria / Q000737:chemistry / Q000201:enzymology* / Q000235:genetics*; D008969:Molecular Sequence Data; D016660:NAD(P)H Dehydrogenase (Quinone) / Q000032:analysis / Q000235:genetics*; D009245:NADH Dehydrogenase; D009247:NADH, NADPH Oxidoreductases / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics; D011506:Proteins / Q000737:chemistry / Q000235:genetics*; D012333:RNA, Messenger / Q000032:analysis / Q000235:genetics; D017422:Sequence Analysis, DNA; D014018:Tissue Distribution; D014158:Transcription, Genetic / Q000235:genetics
D004272:DNA, Mitochondrial; D007506:Iron-Sulfur Proteins; C113982:NDUFS8 protein, human; D011506:Proteins; D012333:RNA, Messenger; D009247:NADH, NADPH Oxidoreductases; D016660:NAD(P)H Dehydrogenase (Quinone); D009245:NADH Dehydrogenase; D042967:Electron Transport Complex I