| First Author | Hyslop SJ | Year | 1996 |
| Journal | Genomics | Volume | 37 |
| Issue | 3 | Pages | 375-80 |
| PubMed ID | 8938450 | Mgi Jnum | J:36760 |
| Mgi Id | MGI:84186 | Doi | 10.1006/geno.1996.0572 |
| Citation | Hyslop SJ, et al. (1996) Assignment of the PSST subunit gene of human mitochondrial complex I to chromosome 19p13. Genomics 37(3):375-80 |
| abstractText | 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. |
