Mutations of SURF-1 in Leigh disease associated with cytochrome C oxidase deficiency

American Journal of Human Genetics

Volumn 63, Issue 6, 1998, Pages 1609-1621

  Tiranti, Valeria ^a   Hoertnagel, Konstanze ^c   Carrozzo, Rosalba ^d   Calimberti, Claudia ^a   Munaro, Monica ^a   Granatiero, Matteo ^e   Zelante, Leopoldo ^e   Gasparini, Paolo ^e   Marzella, Rosalia ^f   Rocchi, Mariano ^f   Pilar Bayona Bafaluy, M ^g   Enriquez, Josè Antonio ^g   Uziel, Graziella ^a   Bertini, Enrico ^d   Dionisi Vici, Carlo ^d   Franco, Brunella ^b   Meitinger, Thomas ^c   Zeviani, Massimo ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^c UNIVERSITY OF MUNICH   (Germany)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^e CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^f UNIVERSITY OF BARI   (Italy)

^g UNIVERSITY OF ZARAGOZA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE;

ARTICLE; CHROMOSOME 9Q; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME DEFICIENCY; GENE LOCATION; GENE MUTATION; GENETIC LINKAGE; HUMAN; LEIGH DISEASE; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RESPIRATORY CHAIN;

RODENTIA;

EID: 0032470811     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302150     Document Type: Article

References (31)

1. Anderson S, Bankier AT, Barrell BG, de Bruijn MHL, Coulson AR, Drouin J, Eperon IC, et al. (1981) Sequence and organization of the human mitochondrial genome. Nature 290: 457-465
2. Babcock GT, Wikström M (1992) Oxygen activation and the conservation of energy in cell respiration. Nature 356: 301-309
3. Bibb MJ, Van Etten RA, Wright CT, Walberg MW, Clayton DA (1981) Sequence and gene organization of mouse mitochondrial DNA. Cell 26:167-180
4. Bourgeron T, Rustin P, Chretien D, Birch-Machin M, Bourgeois M, Viegas-Pequignot E, Munnich A, et al. (1995) Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet 11: 144-149
5. Breen GA, Miller DL, Holmans PL, Welch G (1986) Mitochondrial DNA of two independent oligomycin-resistant Chinese hamster ovary cell lines contains a single nucleotide change in the ATPase 6 gene. J Biol Chem 261:11680-11685
6. Brown RM, Brown GK (1996) Complementation analysis of systemic cytochrome oxidase deficiency presenting as Leigh syndrome. J Inherit Metab Dis 19:752-760.
7. Claros MG (1995) MitoProt, a Macintosh application for studying mitochondrial proteins. Comput Appl Biosci 11: 441-447
8. Colombo P, Yon J, Garson K, Fried M (1992) Conservation of the organization of five tightly clustered genes over 600 million years of divergent evolution. Proc Natl Acad Sci USA 89:6358-6362
9. Darley-Usmar VM, Rickwood D, Wilson MT (1987) Mitochondria: a practical approach. IRL Press, Oxford
10. Fournier REK (1981) A general high-efficiency procedure for production of microcell hybrids. Proc Natl Acad Sci USA 78:6349-6353
11. Grossman LI, Lomax MI (1997) Nuclear genes for cytochrome c oxidase. Biochim Biophys Acta 1352:174-192
12. Jaksch M, Hofmann S, Kleinle S, Liechti-Gallati S, Pongratz DE, Mueller-Hoecker J, Jedele KB, et al. (1998) A systematic screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNAser(UCN) mutations in a subgroup with syndromal encephalopathy. J Med Genet 35:895-900
13. King M, Attardi G (1989) Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementtation. Science 246:500-503
14. Lathrop GM, Lalouel JM, Julier C, Ott J (1984) Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 81:3443-3446
15. Lennard A, Gaston K, Fried M (1994) The Surf-1 and Surf-2 genes and their essential bidirectional promoter elements are conserved between mouse and human. DNA Cell Biol 13: 1117-1126
16. Lichter P, Tang Chang C-J, Call K, Hermanson G, Evans GA, Housman D, Ward DC (1990) High resolution mapping of human chromosomes 11 by in situ hybridization with cosmid clones. Science 247:64-69
17. Liu P, Siciliano J, Seong D, Craig J, Zhao Y, de Jong PJ, Siciliano MJ (1993) Dual Alu PCR primers and conditions for isolation of human chromosome painting probes from hybrid cells. Cancer Genet Cytogenet 65:93-99
18. Lowry OH, Rosebrough NJ, Farr AL, Randall RJ (1951) Protein measurement with the Folin phenol reagent. J Biol Chem 193:265-271
19. Mashkevich G, Repetto B, Glerum DM, Jin C, Tzagoioff A (1997) SHY1, the yeast homolog of the mammalian SURF-1 gene, encodes a mitochondrial protein required for respiration. J Biol Chem 272:14356-14364
20. Killary AM, Fournier RE (1995) Microcell fusion. Methods Enzymol 254:133-152
21. Munaro M, Tiranti V, Sandonà D, Lamantea E, Uziel G, Bisson R, Zeviani M (1997) A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome. Hum Mol Genet 6:221-228
22. Nakai K, Kanehisa M (1995) A knowledge base for predicting protein localization sites in eukaryotic cells. Genomics 14: 897-911
23. Ott J (1991) Heterogeneity due to a mixture of families. In: Analysis of human genetic linkage, rev ed. Johns Hopkins University Press, Baltimore, pp 203-216
24. Rahnian S, Blok RB, Dahl H-H, Danks DM, Kirby DM, Chow CW, Christodoulou J, et al. (1996) Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol 39:343-351
25. Robinson BH, Ward J, Goodyer P, Baudet A (1986) Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemia. J Clin Invest 77:1422-1427
26. Rocchi M, Archidiacono N, Ward DC, Baldini A (1991) A human chromosome 9-specifk alphoid DNA repeat spatially resolvable from satellite 3 DNA by fluorescent in situ hybridization. Genomics 9:517-523
27. Rocchi M, Roncuzzi L, Santamaria R, Archidiacono N, Dente L, Romeo G (1986) Mapping through somatic cell hybrids and cDNA probes of protein C to chromosome 2, factor X to chromosome 13, and alpha1-acid glycoprotein to chromosome 9. Hum Genet 74:30-33
28. Santorelli FM, Shanske S, Macaya A, DeVivo DC, DiMauro S (1993) The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. Ann Neurol 34: 827-834
29. Taanman JW (1997) Human cytochrome c oxidase: structure, function, and deficiency. J Bioenerg Biomembr 29:151-163
30. 0 transformants. Hum Mol Genet 4:2017-2023
31. Zeviani M, Bertagnolio B, Uziel G (1996) Neurological presentations of mitochondrial diseases. J Inherit Metab Dis 19: 504-520