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 › peer-review

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

Keywords

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

ASJC Scopus subject areas

Genetics

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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.}",

year = "1992",

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T1 - Differential expression of genes specifying two isoforms of subunit VIa of human cytochrome c oxidase

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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JO - Gene

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ER -

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

Abstract

Keywords

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