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

Autor: Massimo Zeviani, Valeria Tiranti, Patricio Fernandez, Vittoria Petruzzella, Paola Ianna, Rosalba Carrozzo
Rok vydání: 1998
Předmět:
Saccharomyces cerevisiae Proteins
BCS1L
Sequence analysis
Molecular Sequence Data
Respiratory chain
Sequence Homology
Sequence alignment
Biology
Chromosomes
Electron Transport Complex IV
Mitochondrial Proteins
Copper Transport Proteins
Genetics
Humans
Tissue Distribution
Amino Acid Sequence
Cloning
Molecular
Cation Transport Proteins
Gene
Peptide sequence
Transaminases
Expressed Sequence Tags
Alkyl and Aryl Transferases
Sequence Homology
Amino Acid
Pair 17
Genetic Complementation Test
Nucleic acid sequence
Molecular
Chromosome Mapping
Membrane Proteins
Nuclear Proteins
Proteins
Fibroblasts
Mitochondria
Amino Acid
Mitochondrial respiratory chain
Electron Transport Chain Complex Proteins
Mutation
Carrier Proteins
Chromosomes
Human
Pair 17
Leigh Disease
Molecular Chaperones
Transcription Factors
Human
Cloning
Zdroj: Genomics. 54:494-504
ISSN: 0888-7543
DOI: 10.1006/geno.1998.5580
Popis: 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.
Databáze: OpenAIRE
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