Differential expression of genes specifying two isoforms of subunit VIa of human cytochrome c oxidase.

TitleDifferential expression of genes specifying two isoforms of subunit VIa of human cytochrome c oxidase.
Publication TypeJournal Article
Year of Publication1992
AuthorsFabrizi, GM, Sadlock, J, Hirano, M, Mita, S, Koga, Y, Rizzuto, R, Zeviani, M, Schon, EA
JournalGene
Volume119
Issue2
Pagination307-12
Date Published1992 Oct 01
ISSN0378-1119
KeywordsAmino Acid Sequence, Animals, Base Sequence, Blotting, Northern, Cytochrome-c Oxidase Deficiency, DNA, Electron Transport Complex IV, Gene Expression Regulation, Enzymologic, Humans, Isoenzymes, Molecular Sequence Data, Muscles, Organ Specificity, Sequence Homology, Amino Acid, Sequence Homology, Nucleic Acid, Transcription, Genetic
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 VIa-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 deficiencies with primary involvement of muscle.

DOI10.1016/0378-1119(92)90288-z
Alternate JournalGene
Citation Key10.1016/0378-1119(92)90288-z
PubMed ID1327966
Grant ListAG08702 / AG / NIA NIH HHS / United States
NS11766 / NS / NINDS NIH HHS / United States
NS28828 / NS / NINDS NIH HHS / United States