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http://bura.brunel.ac.uk/handle/2438/3130
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. |
URI: | http://bura.brunel.ac.uk/handle/2438/3130 |
ISSN: | 1061-4036 |
Appears in Collections: | Biological Sciences Dept of Life Sciences Research Papers |
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