Abstract
Subunit VIa of mammalian cytochrome c oxidase (COX; EC 1.9.3.1.) exists in two isoforms, one present ubiquitously ('liver' isoform; COX VIa-L) and the other present only in cardiac and skeletal muscle (COX VIa-M). We have now isolated a full-length cDNA specifying human COX Vla-M. The deduced mature COX VIa-M polypeptide is 62% identical to the human COX VIa-L isoform, but is approximately 80% identical to the bovine and rat COX VIa-M isoforms, suggesting that the two COX VIa isoform-encoding genes arose prior to the mammalian radiation. Transcriptional analysis showed a tissue-specific pattern: whereas COXVIa-L is transcribed ubiquitously, COXVIa-M is transcribed only in heart and skeletal muscle. The cDNA specifying COX VIa-M is a prime candidate for use in investigations of Mendelian-inherited COX deficiences with primary involvement of muscle.
Original language | English |
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Pages (from-to) | 307-312 |
Number of pages | 6 |
Journal | Gene |
Volume | 119 |
Issue number | 2 |
DOIs | |
Publication status | Published - Oct 1 1992 |
Keywords
- electron transport
- liver
- Mitochondrial protein
- muscle
- nuclear gene
- nucleotide sequence analysis
- recombinant DNA
- respiratory chain
ASJC Scopus subject areas
- Genetics