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

Gian Maria Fabrizi; James Sadlock; Michio Hirano; Shuji Mita; Yasutoshi Koga; Rosario Rizzuto; Massimo Zeviani; Eric A. Schon

doi:10.1016/0378-1119(92)90288-Z

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

Gian Maria Fabrizi, James Sadlock, Michio Hirano, Shuji Mita, Yasutoshi Koga, Rosario Rizzuto, Massimo Zeviani, Eric A. Schon

Fondazione IRCCS Istituto Neurologico "C. Besta"

Research output: Contribution to journal › Article

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
Pages (from-to)	307-312
Number of pages	6
Journal	Gene
Volume	119
Issue number	2
DOIs	https://doi.org/10.1016/0378-1119(92)90288-Z
Publication status	Published - Oct 1 1992

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Keywords

electron transport
liver
Mitochondrial protein
muscle
nuclear gene
nucleotide sequence analysis
recombinant DNA
respiratory chain

ASJC Scopus subject areas

Genetics

Cite this

Fabrizi, G. M., Sadlock, J., Hirano, M., Mita, S., Koga, Y., Rizzuto, R., Zeviani, M., & Schon, E. A. (1992). Differential expression of genes specifying two isoforms of subunit VIa of human cytochrome c oxidase. Gene, 119(2), 307-312. https://doi.org/10.1016/0378-1119(92)90288-Z

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title = "Differential expression of genes specifying two isoforms of subunit VIa of human cytochrome c oxidase",

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.",

keywords = "electron transport, liver, Mitochondrial protein, muscle, nuclear gene, nucleotide sequence analysis, recombinant DNA, respiratory chain",

author = "Fabrizi, {Gian Maria} and James Sadlock and Michio Hirano and Shuji Mita and Yasutoshi Koga and Rosario Rizzuto and Massimo Zeviani and Schon, {Eric A.}",

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AU - Fabrizi, Gian Maria

AU - Sadlock, James

AU - Hirano, Michio

AU - Mita, Shuji

AU - Koga, Yasutoshi

AU - Rizzuto, Rosario

AU - Zeviani, Massimo

AU - Schon, Eric A.

PY - 1992/10/1

Y1 - 1992/10/1

N2 - 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.

AB - 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.

KW - electron transport

KW - liver

KW - Mitochondrial protein

KW - muscle

KW - nuclear gene

KW - nucleotide sequence analysis

KW - recombinant DNA

KW - respiratory chain

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10.1016/0378-1119(92)90288-Z