Sequence homology of NADH CoQ reductase subunit IV with nucleotide-requiring enzymes.
The amino acid sequence of NADH CoQ reductase subunit IV is highly homologous with those of enzymes such as ATPase, argininosuccinate synthetase and adenylate kinase. Replacement of arginine by histidine in three enzymes was shown to result in loss of enzyme activity, causing pathologies including citrullinemia. As an analogy, we submit the hypothesis that replacement of arginine by histidine in NADH CoQ reductase subunit IV leads to its activity change, and ultimately results in Leber's hereditary optic neuropathy.
Isashiki
Y
Y
Department of Ophthalmology, Kagoshima University Faculty of Medicine, Japan.
Ohba
N
N
Uto
M
M
Nakagawa
M
M
D000251:Adenosine Triphosphatases / Q000235:genetics*; D000263:Adenylate Kinase / Q000235:genetics*; D000595:Amino Acid Sequence; D001120:Arginine / Q000235:genetics; D001124:Argininosuccinate Synthase / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics; D042967:Electron Transport Complex I; D006639:Histidine / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D009247:NADH, NADPH Oxidoreductases / Q000235:genetics*; D015418:Optic Atrophies, Hereditary / Q000235:genetics; D017354:Point Mutation; D017386:Sequence Homology, Amino Acid
D004272:DNA, Mitochondrial; D006639:Histidine; D001120:Arginine; D009247:NADH, NADPH Oxidoreductases; D000263:Adenylate Kinase; D000251:Adenosine Triphosphatases; D001124:Argininosuccinate Synthase; D042967:Electron Transport Complex I