Journal article
Genetic, functional and evolutionary characterization of scox, the Drosophila melanogaster ortholog of the human SCO1 gene
D Porcelli, M Oliva, S Duchi, D Latorre, V Cavaliere, P Barsanti, G Villani, G Gargiulo, C Caggese
Mitochondrion | ELSEVIER SCI LTD | Published : 2010
Abstract
SCO proteins are copper-donor chaperones involved in the assembly of mitochondrial cytochrome c oxidase (COX). Mutations in the two human SCO-encoding genes, SCO1 and SCO2, produce tissue-specific COX deficiencies associated with distinct clinical phenotypes. Here, we report the identification and characterization of scox, the single Drosophila melanogaster SCO-encoding gene. Null mutations of the scox gene are associated with larval lethality, while mutations in its 5'UTR are associated with motor dysfunction and female sterile phenotypes. All mutant phenotypes may be rescued by a transgene encompassing wild-type scox. The analysis of the phenotypes associated with the D. melanogaster scox ..
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Funding Acknowledgements
We thank the Broad Institute and the J. Craig Venter Institute (Culex pipiens and Hydra magnipapillata), the Baylor College of Medicine (Nasonia vitripennis and Acyrthosiphon pisum), the Human Body Louse Genome Consortium (Pediculus humanus corporis), the Ixodes scapularis Genome Project, The Fugu Genome Sequencing Consortium (Takifugu rubripes), the Sanger Institute (Danio rerio) and the DOE Joint Genome Institute (Xenopus tropicalis) for prepublication access to genome data. This work was supported by grants from Ministero dell'Istruzione, dell'Universita e della Ricerca (MIUR) to C.C. and "National Research Project PRIN 2006 n8 2006069034_004 of the Italian Ministry for the University (MIUR) to G.V.".