A Stop-Codon Mutation in the Human mtDNA Cytochrome c Oxidase I Gene Disrupts the Functional Structure of Complex IV

The American Journal of Human Genetics - Tập 65 - Trang 611-620 - 1999
Claudio Bruno1,2, Andrea Martinuzzi3, Yingying Tang4, Antoni L. Andreu1,5, Francesco Pallotti1, Eduardo Bonilla1, Sara Shanske1, Jin Fu1, Carolyn M. Sue1, Corrado Angelini6, Salvatore DiMauro1, Giovanni Manfredi1
1Department of Neurology, Columbia University College of Physicians and Surgeons, New York
2Department of Pediatrics, Istituto Giannina Gaslini, University of Genoa, Genoa
3Scientific Institute E. Medea, Conegliano Research Center, Conegliano, Italy
4Department of Genetics and Development, H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia University College of Physicians and Surgeons, New York
5Centre d'Investigacions en Bioquimica i Biologia Molecular, Hospitals Vall d'Hebron, Barcelona
6Department of Neurology, University of Padua, Padua

Tài liệu tham khảo

Anderson, 1981, Sequence and organization of the human mitochondrial genome, Nature, 290, 457, 10.1038/290457a0 Andreu, 1998, Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy, Neurology, 51, 1444, 10.1212/WNL.51.5.1444 Broker, 1998, mtDNA mutations associated with sideroblastic anaemia cause a defect of mitochondrial cytochrome c oxidase, Eur J Biochem, 258, 132, 10.1046/j.1432-1327.1998.2580132.x Chomyn, 1991, In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy patient mitochondria, Mol Cell Biol, 11, 2236 Comi, 1998, Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease, Ann Neurol, 43, 110, 10.1002/ana.410430119 DiMauro, 1997, Mitochondrial encephalomyopathies, 201 DiMauro, 1987, Cytochrome c oxydase deficiency in Leigh syndrome, Ann Neurol, 22, 498, 10.1002/ana.410220409 Gattermann, 1997, Heteroplasmic point mutation of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia, Blood, 90, 4961, 10.1182/blood.V90.12.4961 Hanna, 1998, Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA, Am J Hum Genet, 63, 29, 10.1086/301910 Holt, 1988, Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies, Nature, 331, 717, 10.1038/331717a0 Holt, 1990, A new mitochondrial disease associated with mitochondrial DNA heteroplasmy, Am J Hum Genet, 46, 428 Houshmand, 1994, Automatic sequencing of mitochondrial tRNA genes in patients with mitochondrial encephalomyopathy, Biochim Biophys Acta, 1226, 49, 10.1016/0925-4439(94)90058-2 Keightley, 1996, A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria, Nat Genet, 12, 410, 10.1038/ng0496-410 King, 1989, Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation, Science, 246, 500, 10.1126/science.2814477 King, 1992, Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNALeu(UUR) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Mol Cell Biol, 12, 480 Lowry, 1951, Protein measurement with folin phenol reagent, J Biol Chem, 193, 265, 10.1016/S0021-9258(19)52451-6 Manfredi, 1995, A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene, Neuromusc Disord, 5, 391, 10.1016/0960-8966(94)00079-O Marusich, 1997, Biochim Biophys Acta, 1362, 145, 10.1016/S0925-4439(97)00061-6 Marzuki, 1991, Normal variants of human mitochondrial DNA and translation products: the building of a reference data base, Hum Genet, 88, 139, 10.1007/BF00206061 Moraes, 1989, Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearn-Sayre syndrome, Biochem Biophys Res Commun, 160, 765, 10.1016/0006-291X(89)92499-6 Polyak, 1998, Somatic mutations of the mitochondrial genome in human colorectal tumors, Nat Genet, 20, 291, 10.1038/3108 Rieder, 1998, Automatic identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome, Nucleic Acid Res, 26, 967, 10.1093/nar/26.4.967 Robinson, 1996, Use of fibroblast and lymphoblast cultures for detection of respiratory chain defects, Methods Enzymol, 264, 454, 10.1016/S0076-6879(96)64041-5 Schägger, 1987, Tricine-sodium dodecyl sulfate-polyacrylamide gel electrophoresis for the separation of proteins in the range from 1 to 100 kDa, Anal Biochem, 166, 368, 10.1016/0003-2697(87)90587-2 Schon, 1997, Mitochondrial DNA mutations and pathogenesis, J Bioenerg Biomembr, 29, 131, 10.1023/A:1022685929755 Servidei, 1999, Mitochondrial encephalomyopathies: gene mutation, Neuromusc Dis, 9, XV Shoubridge, 1996, Use of myoblast cultures to study mitochondrial myopathies, Methods Enzymol, 264, 465, 10.1016/S0076-6879(96)64042-7 Taanman, 1997, Human cytochrome c oxidase: structure, function, and deficiency, J Bioenerg Biomembr, 29, 151, 10.1023/A:1022638013825 Tiranti, 1998, Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency, Am J Hum Genet, 63, 1609, 10.1086/302150 Tritschler, 1991, Differential diagnosis of fatal and benign cytochrome c oxidase deficient myopathies of infancy: an immunohistochemical approach, Neurology, 41, 300, 10.1212/WNL.41.2_Part_1.300 Tsukihara, 1996, The whole structure of the 13-subunit oxidized cytochrome c oxidase at 2.8 Å, Science, 272, 1136, 10.1126/science.272.5265.1136 Wallace, 1988, Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy, Science, 242, 1427, 10.1126/science.3201231 Zhu, 1998, SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome, Nat Genet, 20, 337, 10.1038/3804