Assignment of the PSST Subunit Gene of Human Mitochondrial Complex I to Chromosome 19p13

• Published in: Genomics (San Diego, Calif.) Calif.), 1996-11, Vol.37 (3), p.375-380
• Main Authors: Hyslop, Serena J., Duncan, Alessandra M.V., Pitkänen, Sari, Robinson, Brian H.
• Format: Article
• Language: English
• Subjects: Animals; Biological and medical sciences; Cattle; Cell Line; Chromosomes, Human, Pair 19 - genetics; Classical genetics, quantitative genetics, hybrids; DNA, Complementary - genetics; Fibroblasts - chemistry; Fundamental and applied biological sciences. Psychology; Genes; Genetics of eukaryotes. Biological and molecular evolution; Human; Humans; Mitochondria - enzymology; NAD(P)H Dehydrogenase (Quinone) - chemistry; NAD(P)H Dehydrogenase (Quinone) - deficiency; NAD(P)H Dehydrogenase (Quinone) - genetics; Polymerase Chain Reaction; Sequence Alignment; Sequence Homology, Amino Acid; Species Specificity
• ISSN: 0888-7543; 1089-8646
• DOI: 10.1006/geno.1996.0572

The cDNA for the PSST subunit of human mito- chondrial nicotinamide adenine dinucleotide (NADH): ubiquinone oxidoreductase [complex I; NADH de- hydrogenase (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.