Searching for nuclear-mitochondrial genes

Trends in Genetics

Volumn 19, Issue 2, 2003, Pages 60-62

  Chinnery, Patrick F ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENOTYPE; MITOCHONDRIAL GENETICS; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; SHORT SURVEY; YEAST;

ANIMALS; CELL NUCLEUS; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT; GENES, DOMINANT; GENES, RECESSIVE; GENETIC DISEASES, INBORN; HUMANS; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTEINS; POINT MUTATION;

EID: 0037303781     PISSN: 01689525     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0168-9525(02)00030-6     Document Type: Short Survey

References (24)

1. Chinnery P.F., Turnbull D.M. The epidemiology and treatment of mitochondrial disease. Am. J. Med. Genet. 106:2001;94-101.
2. Scharfe C., et al. MITOP, the mitochondrial proteome database: 2000 update. Nucleic Acids Res. 28:2000;155-158.
3. Anderson S., et al. Sequence and organization of the human mitochondrial genome. Nature. 290:1981;457-465.
4. Servidei S. Mitochondrial encephalomyopathies: gene mutation. Neuromuscul. Disord. 12:2002;101-110.
5. Nishino I., et al. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science. 283:1999;689-692.
6. Spelbrink J.N., et al. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localised in mitochondria. Nat. Genet. 28:2001;223-231.
7. Kaukonen J., et al. Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science. 289:2000;782-785.
8. Van Goethem G., et al. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat. Genet. 28:2001;211-212.
9. Bougeron T., et al. A mutation of nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat. Genet. 11:1995;144-149.
10. Saada A., et al. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat. Genet. 29:2001;342-344.
11. Mandel H., et al. The deoyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat. Genet. 29:2001;337-341.
12. Parfait B., et al. No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency. Hum. Genet. 101:1997;247-250.
13. Rahman S., et al. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann. Neurol. 39:1996;343-351.
14. Von Kleist-Retzow J.C., et al. Mutations in SURF1 are not specifically associated with Leigh syndrome. J. Med. Genet. 38:2001;109-113.
15. Valnot I., et al. A mutation in the human heme A:farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency. Hum. Mol. Genet. 9:2000;1245-1249.
16. Tiranti V., et al. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am. J. Hum. Genet. 63:1998;1609-1621.
17. Zhu Z., et al. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nat. Genet. 20:1998;337-343.
18. de Lonlay P., et al. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nat. Genet. 29:2001;57-60.
19. Steinmetz L.M., et al. Systematic screen for human disease genes in yeast. Nat. Genet. 31:2002;400-404.
20. Shoemaker D.D., et al. Quantitative phenotypic analysis of yeast deletion mutants using a highly parallel molecular bar-coding strategy. Nat. Genet. 14:1996;450-456.
21. Wach A., et al. Heterologous HIS3 marker and GFP reporter modules for PCR-targeting in Saccharomyces cerevisiae. Yeast. 13:1997;1065-1075.
22. Foury F., Kucej M. Yeast mitochondrial biogenesis: a model system for humans? Curr. Opin. Chem. Biol. 6:2002;106-111.
23. Bassett D.E. Jr., et al. Genome cross-referencing and XREFdb: implications for the identification and analysis of genes mutated in human disease. Nat. Genet. 15:1997;339-344.
24. de Vries S., Grivell L.A. Purification and characterization of a rotenone-insensitive NADH:Q6 oxidoreductase from mitochondria of Saccharomyces cerevisiae. Eur. J. Biochem. 176:1988;377-384.