Assignment of the PSST subunit gene of human mitochondrial complex I to chromosome 19p13.

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Hyslop SJ, Duncan AM, Pitkanen S, Robinson BH

Assignment of the PSST subunit gene of human mitochondrial complex I to chromosome 19p13.

Genomics. 1996 Nov 1;37(3):375-80.

PubMed ID

8938450 [ View in PubMed

]

Abstract

The cDNA for the PSST subunit of human mitochondrial nicotinamide adenine dinucleotide (NADH): ubiquinone oxidoreductase [complex I; NADH dehydrogenase (ubiquinone), Fe-S (20 kDa); EC 1.6.5.3] was generated by polymerase chain reaction (PCR) amplification of human cDNA. The sequence of the mature protein deduced from the cDNA codes for a protein that is closely related to the bovine protein (93% homology). Nine conservative substitutions are found in the mature protein, mainly in the N and C terminal regions. The mature human protein is missing four amino acids (PAAL) close to the N terminus that are present in the bovine protein. The N terminus of the mature protein is preceded by a presequence of 38 amino acids that, although quite different from its bovine counterpart (52% homology), has properties that are characteristic of a mitochondrial import sequence. Southern hybridization analysis predicts an estimated gene size of 3.8 kb. Northern hybridization analysis of mRNA from fibroblasts of complex I-deficient patients revealed no size or transcript level abnormalities. The cDNA of the PSST protein was used to investigate tissue-specific expression and to localize the gene for this subunit to chromosome 19p13.

DrugBank Data that Cites this Article

Drug Targets

Drug	Target	Kind	Organism	Pharmacological Action	Actions
NADH	NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial	Protein	Humans	Unknown	Not Available	Details

Polypeptides

Name	UniProt ID
NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial	O75251	Details