Molecular cloning and characterization of the human mitochondrial NADH:oxidoreductase 10-kDa gene (NDUFV3).
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.
de Coo
R F
RF
Department of Human Genetics, University Hospital Nijmegen, Nijmegen, 6500 HB, The Netherlands. decoo@neur.azr.nl
Buddiger
P
P
Smeets
H J
HJ
van Oost
B A
BA
D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002417:Cattle; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000235:genetics; D004314:Down Syndrome / Q000235:genetics; D042967:Electron Transport Complex I; D005091:Exons; D015870:Gene Expression; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008969:Molecular Sequence Data; D008970:Molecular Weight; D009247:NADH, NADPH Oxidoreductases / Q000737:chemistry / Q000235:genetics*; D016366:Open Reading Frames; D011487:Protein Conformation; D051381:Rats
D018076:DNA, Complementary; D009247:NADH, NADPH Oxidoreductases; D042967:Electron Transport Complex I