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dc.contributor.authorZhu, Z-
dc.contributor.authorYao, J-
dc.contributor.authorJohns, T-
dc.contributor.authorFu, K-
dc.contributor.authorDe Brie, I-
dc.contributor.authorMacMillan, C-
dc.contributor.authorCuthbert, AP-
dc.contributor.authorNewbold, RF-
dc.contributor.authorWang, J-
dc.contributor.authorCheverette, M-
dc.identifier.citationNature Genetics . 20 (4) 337-343en
dc.description.abstractLeigh Syndrome (LS) is a severe neurological disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions that is commonly associated with systemic cytochrome c oxidase (COX) deficiency. COX deficiency is an autosomal recessive trait and most patients belong to a single genetic complementation group. DNA sequence analysis of the genes encoding the structural subunits of the COX complex has failed to identify a pathogenic mutation. Using microcell-mediated chromosome transfer, we mapped the gene defect in this disorder to chromosome 9q34 by complementation of the respiratory chain deficiency in patient fibroblasts. Analysis of a candidate gene (SURF1) of unknown function revealed several mutations, all of which predict a truncated protein. These data suggest a role for SURF1 in the biogenesis of the COX complex and define a new class of gene defects causing human neurodegenerative disease.en
dc.format.extent383230 bytes-
dc.publisherNature Publishing Group-
dc.subjectAmino Acid Sequenceen
dc.subjectCell Lineen
dc.subjectChromosome Mappingen
dc.subjectChromosomes, Human, Pair 9en
dc.subjectDNA, Complementaryen
dc.subjectElectron Transport Complex IV/*biosynthesisen
dc.subjectIn Situ Hybridization, Fluorescenceen
dc.subjectMembrane Proteinsen
dc.subjectLeigh Disease/*geneticsen
dc.titleSURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndromeen
dc.typeResearch Paperen
Appears in Collections:Biological Sciences
Dept of Life Sciences Research Papers

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