Genomic sequence and organization of the human gene for Cytochrome c oxidase subunit (COX7A1) VIIa-M

Journal Article · Wed Oct 15 04:00:00 EDT 1997 · Genomics

DOI:https://doi.org/10.1006/geno.1997.4937· OSTI ID:588670

Wolz, W; Kress, W; Mueller, C R ^[1]

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1. Biocenter, Wuerzburg (Germany)

Cytochrome c oxidase (COX, EC 1.9.3.1), the last component of the mitochondrial electron transfer chain, is built up by 13 polypeptides; 3 of them are encoded by the mitochondrial genome while the 10 smaller subunits are encoded subunits occur in two different tissue-specific isoforms, a constitutive {open_quotes}L{close_quotes}-form and an {open_quotes}M{close_quotes}-form specific for skeletal and heart muscle. In this article, we describe the genomic sequence and organization of the human gene for COX subunit VIIa-M (COX7A1) located on chromosome 19q13.1 and compare it to its bovine homologue. The coding region of the gene extends over 1.45 kb of genomic sequence, organized in four exons. Intron-exon boundaries are well conserved between cattle and humans. Although it is a gene for a tissue-specific isoform, it has some features of a housekeeping gene: it is located in a CpG island, like it bovine homologue, and no TATA or CCAAT boxes were found in the 5{prime} flanking sequence. Southern hybridization of COX7A1 to human genomic DNA revealed no pseudogenes. Putative binding sites for ubiquitous transcription factors like Sp1 and specific expression in skeletal as well as in heart muscle have been found. In contrast to the bovine gene, the human gene contains putative binding sites for nuclear respiratory factor 2 (NRF-2), which is implicated in the activation of other respiratory enzymes. Therefore, the human and the bovine genes, although well conserved in their coding regions, could differ in the tissue-specific regulation of gene expression. Knowledge of the gene structure will facilitate the analysis of the involvement of subunit VIIa in mitochondrial myopathies and may provide clues to the function of this subunit in a multicomponent enzyme. 25 refs., 2 figs.

• OSTI ID: 588670
• Journal Information: Genomics, Journal Name: Genomics Journal Issue: 2 Vol. 45; ISSN GNMCEP; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CATTLE
DNA
DNA HYBRIDIZATION
DNA SEQUENCING
ENZYMES
EXONS
GENE REGULATION
GENES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 19
MITOCHONDRIA
NUCLEOTIDES
POLYPEPTIDES
STRUCTURE-ACTIVITY RELATIONSHIPS
TISSUE DISTRIBUTION
TRANSCRIPTION FACTORS