Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain

Vittoria Petruzzella, Valeria Tiranti, Patricio Fernandez, Paola Ianna, Rosalba Carrozzo, Massimo Zeviani

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Abstract

We have successfully applied a strategy based on the 'cyberscreening' of the expressed sequence tags database using yeast protein sequences as 'probes' to identify the human gene orthologs to BCS1, COX15, PET112, COX11, and SCO1, five yeast genes involved in the biogenesis of the mitochondrial respiratory chain complexes. In yeast, BCS1 is involved mainly in the assembly of complex III, while the other genes appear to control the structure/function of cytochrome-c oxidase. Significant amino acid identity and similarity were demonstrated by comparison of the human with the corresponding yeast polypeptides. Sequence alignment revealed numerous colinear identical regions and the conservation of functional domains. Mitochondrial targeting of the human gene products, suggested by computer analysis of the protein sequences, was confirmed by an in vitro import and protease-protection assay. These data strongly suggest that the human gene products share similar or identical functions with their yeast homologues. Genes controlling the structure/function of the respiratory chain complexes are attractive candidates for human mitochondrial disorders such as Leigh disease. However, both sequence analysis and functional complementation assays on an index patient do not support an etiological role for any of these genes.

Original languageEnglish
Pages (from-to)494-504
Number of pages11
JournalGenomics
Volume54
Issue number3
DOIs
Publication statusPublished - Dec 15 1998

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Forensic Anthropology
Electron Transport
Complementary DNA
Yeasts
Genes
Leigh Disease
Mitochondrial Diseases
Fungal Proteins
Gene Targeting
Sequence Alignment
Electron Transport Complex III
Expressed Sequence Tags
Protein Sequence Analysis
Organelle Biogenesis
Electron Transport Complex IV
Sequence Analysis
Peptide Hydrolases
Databases
Amino Acids
Peptides

ASJC Scopus subject areas

  • Genetics

Cite this

Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain. / Petruzzella, Vittoria; Tiranti, Valeria; Fernandez, Patricio; Ianna, Paola; Carrozzo, Rosalba; Zeviani, Massimo.

In: Genomics, Vol. 54, No. 3, 15.12.1998, p. 494-504.

Research output: Contribution to journalArticle

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