19 research outputs found
RepresentaçÔes sobre segurança alimentar e nutricional nos discursos de um Conselho de Alimentação Escolar
Caratterizzazione strutturale e funzionale di rnase6pl, un putativo gene oncosoppressore localizzato sul cromosoma 6 umano
Heritage nation vs heritage language: Towards a more nuanced rhetoric of âheritageâ in Italian language pedagogy
Histogram of the node strength and histogram of the edge weight: two new features for RGB-D person re-identification
Mutations of SURF-1 in Leigh Disease Associated with Cytochrome c Oxidase Deficiency
Leigh disease associated with cytochrome c oxidase deficiency (LD[COX-]) is one of the most common disorders of the mitochondrial respiratory chain, in infancy and childhood. No mutations in any of the genes encoding the COX-protein subunits have been identified in LD(COX-) patients. Using complementation assays based on the fusion of LD(COX-) cell lines with several rodent/human rho0 hybrids, we demonstrated that the COX phenotype was rescued by the presence of a normal human chromosome 9. Linkage analysis restricted the disease locus to the subtelomeric region of chromosome 9q, within the 7-cM interval between markers D9S1847 and D9S1826. Candidate genes within this region include SURF-1, the yeast homologue (SHY-1) of which encodes a mitochondrial protein necessary for the maintenance of COX activity and respiration. Sequence analysis of SURF-1 revealed mutations in numerous DNA samples from LD(COX-) patients, indicating that this gene is responsible for the major complementation group in this important mitochondrial disorder
Mutations of SURF-1 in Leigh disease associated with cytochrome C oxidase deficiency
Leigh disease associated with cytochrome c oxidase deficiency (LD([COX- ])) is one of the most common disorders of the mitochondrial respiratory chain, in infancy and childhood. No mutations in any of the genes encoding the COX-protein subunits have been identified in LD((COX-)) patients. Using complementation assays based on the fusion of LD((COX-)) cell lines with several rodent/human rho0 hybrids, we demonstrated that the COX phenotype was rescued by the presence of a normal human chromosome 9. Linkage analysis restricted the disease locus to the subtelomeric region of chromosome 9q, within the 7-cM interval between markers D9S1847 and D9S1826. Candidate genes within this region include SURF-1, the yeast homologue (SHY-1) of which encodes a mitochondrial protein necessary for the maintenance of COX activity and respiration. Sequence analysis of SURF-1 revealed mutations in numerous DNA samples from LD((COX-)) patients, indicating that this gene is responsible for the major complementation group in this important mitochondrial disorder