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Title: SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
Authors: Zhu, Z
Yao, J
Johns, T
Fu, K
De Brie, I
MacMillan, C
Cuthbert, AP
Newbold, RF
Wang, J
Cheverette, M
Keywords: Amino Acid Sequence;Cell Line;Chromosome Mapping;Chromosomes, Human, Pair 9;DNA, Complementary;Electron Transport Complex IV/*biosynthesis;Humans;In Situ Hybridization, Fluorescence;Membrane Proteins;Leigh Disease/*genetics
Issue Date: 1998
Publisher: Nature Publishing Group
Citation: Nature Genetics . 20 (4) 337-343
Abstract: Leigh 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.
ISSN: 1061-4036
Appears in Collections:Biological Sciences
Dept of Life Sciences Research Papers

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