ABSTRACT
The genomic organization of the human 51-kDa subunit gene (NDUFV1) on human Chromosome (Chr) 11q13 was determined. The NDUFV1 gene consists of 10 exons. Exon 1 encodes for the 20-amino-acids-long import sequence, and exon 1 through 10 codes for the 444-amino-acids-long mature protein. The protein sequence is highly conserved between human and bovine. Northern blotting analysis showed that the NDUFV1 gene expression varies widely among tissues and that in testis a unique mRNA species is present. In comparison with the other complex I flavoproteins, the expression of the 51-kDa gene in pancreatic tissue is high.
Subject(s)
Proteins/genetics , Amino Acid Sequence , Animals , Base Sequence , Blotting, Southern , Cattle , Cloning, Molecular , Electron Transport Complex I , Exons , Gene Library , Humans , Introns , Molecular Sequence Data , NADH Dehydrogenase , Proteins/metabolism , Restriction Mapping , Sequence Homology, Amino Acid , Tissue DistributionABSTRACT
The human gene for the 10-kDa flavoprotein subunit of the mitochondrial NADH:ubiquinone oxidoreductase (Complex I) was completely cloned and sequenced. The so-called NDUFV3 gene contains three exons, spanning 20 kb. The open reading frame contains a 34-codon import sequence and a 74-codon mature protein sequence. A database search revealed close homology to bovine and rat protein sequence but not to any other known protein. Northern blot analysis showed that the NDUFV3 gene is ubiquitously expressed. The NDUFV3 gene was assigned by FISH to a single location on chromosome 21q22.3 and might contribute to the Down syndrome phenotype.
Subject(s)
NADH, NADPH Oxidoreductases/genetics , Amino Acid Sequence , Animals , Base Sequence , Cattle , Chromosomes, Human, Pair 21/genetics , Cloning, Molecular , DNA, Complementary/genetics , Down Syndrome/genetics , Electron Transport Complex I , Exons , Gene Expression , Humans , In Situ Hybridization, Fluorescence , Molecular Sequence Data , Molecular Weight , NADH, NADPH Oxidoreductases/chemistry , Open Reading Frames , Protein Conformation , RatsABSTRACT
Two distinct loci for the 24-kDa subunit of the mitochondrial NADH:ubiquinone oxidoreductase (complex I of the respiratory chain) were detected in the human genome: a transcribed gene from chromosome 18 and an inactive locus on chromosome 19. Cosmid clones containing the functional gene (NDUFV2) and the pseudogene (NDUFV2P1) were isolated. The NDUFV2 gene spans approximately 20 kb and contains 8 exons. Refined mapping of both NDUFV2 genes by FISH resulted in an assignment of the NDUFV2 gene to 18p11.2-p11.31 and of the NDUFV2P1 gene to 19q13.3-qter. The nucleotide sequence of the NDUFV2P1 pseudogene differs from the cDNA sequence by the lack of the methionine initiator codon, an additional 165 bp of the first intron sequence, and a 1-nucleotide deletion.
