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

S J Hyslop, A M Duncan, S Pitkänen, B H Robinson

Department of Biochemistry, University of Toronto, Canada.

Genomics 1996 Nov 1

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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.

Citation

S J Hyslop, A M Duncan, S Pitkänen, B H Robinson. Assignment of the PSST subunit gene of human mitochondrial complex I to chromosome 19p13. Genomics. 1996 Nov 1;37(3):375-80