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

Genomics
S J HyslopB H Robinson

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.

Citations

Dec 21, 2004·Journal of the Neurological Sciences·Tamara VyshkinaBernadette Kalman
Jan 8, 1999·Biochemical and Biophysical Research Communications·J L LoeffenJ A Smeitink
Mar 16, 2017·Proceedings of the National Academy of Sciences of the United States of America·Jia ZhongAndrea A Baccarelli
May 11, 1999·Journal of Inherited Metabolic Disease·R TriepelsL van den Heuvel

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