Screening human EST database for identification of candidate genes in respiratory chain deficiency

Molecular Genetics and Metabolism

Volumn 69, Issue 3, 2000, Pages 223-232

  Rötig, Agnès ^a   Valnot, Isabelle ^a   Mugnier, Claude ^a   Rustin, Pierre ^a   Munnich, Arnold ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Candidate genes; Human EST; Mitochondrial diseases; Oxidative phosphorylation; Yeast

Indexed keywords

ARTICLE; CARBOXY TERMINAL SEQUENCE; DATA BASE; GENE MUTATION; HUMAN; HUMAN CELL; METABOLIC DISORDER; NUCLEOTIDE SEQUENCE; OXIDATIVE PHOSPHORYLATION; PRIORITY JOURNAL; PROTEIN ASSEMBLY; RESPIRATORY CHAIN; SCREENING; SEQUENCE HOMOLOGY; UNINDEXED SEQUENCE;

EID: 18144432907     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2000.2972     Document Type: Article

References (21)

1. Bourgeron T, Rustin P, Chretien D, Birch-Machin M, Bourgeois M, Viegas-Pequignot E, Munnich A, Rötig A. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nature Genet. 11:1995;144-149.
2. Loeffen J, Smeitink J, Triepels R, Smeets R, Schuelke M, Sengers R, Trijbels F, Hamel B, Mullaart R, van den Heuvel L. The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. Am J Hum Genet. 63:1998;1598-1608.
3. van den Heuvel L, Ruitenbeek W, Smeets R, Gelman-Kohan Z, Elpeleg O, Loeffen J, Trijbels F, Mariman E, de Bruijn D, Smeitink J. Demonstration of a new pathogenic mutation in human complex I deficiency: A 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit. Am J Hum Genet. 62:1998;262-268.
4. Schuelke M, Smeitink J, Mariman E, Loeffen J, Plecko B, Trijbels F, Stockler-Ipsiroglu S, van den Heuvel L. Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. Nature Genet. 21:1999;260-261.
5. Triepels R H, van den Heuvel L P, Loeffen J L, Buskens C A, Smeets R J, Rubio-Gozalbo M E, Budde S M, Mariman E C, Wijburg F A, Barth P G, Trijbels J M, Smeitink J A. Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I. Ann Neurol. 45:1999;787-790.
6. Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernandez P, De Michele G, Filla A, Cocozza S, Marconi R, Durr A, Fontaine B, Ballabio A. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell. 93:1998;973-983.
7. Zhu Z, Yao J, Johns T, Fu K, De Bie I, Macmillan C, Cuthbert A P, Newbold R F, Wang J, Chevrette M, Brown G K, Brown R M, Shoubridge E A. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nature Genet. 20:1998;337-343.
8. Tiranti V, Hoertnagel K, Carrozzo R, Galimberti C, Munaro M, Granatiero M, Zelante L, Gasparini P, Marzella R, Rocchi M, Bayona-Bafaluy M P, Enriquez J A, Uziel G, Bertini E, Dionisi-Vici C, Franco B, Meitinger T, Zeviani M. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet. 63:1998;1609-1621.
9. Koehler C M, Leuenberger D, Merchant S, Renold A, Junne T, Schatz G. Human deafness dystonia syndrome is a mitochondrial disease. Proc Natl Acad Sci USA. 96:1999;2141-2146.
10. Babcock M, de Silva D, Oaks R, Davis-Kaplan S, Jiralerspong S, Montermini L, Pandolfo M, Kaplan J. Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. Science. 276:1997;1709-1712.
11. Foury F, Cazzalini O. Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria. FEBS Lett. 411:1997;373-377.
12. Rötig A, de Lonlay P, Chretien D, Foury F, Koenig M, Sidi D, Munnich A, Rustin P. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nature Genet. 17:1997;215-217.
13. Tugendreich S, Boguski M S, Seldin M S, Hieter P. Linking yeast genetics to mammalian genomes: Identification and mapping of the human homolog of CDC27 via the expressed sequence tag (EST) database. Proc Natl Acad Sci USA. 90:1993;10031-10035.
14. Bassett D E Jr, Boguski M S, Hieter P. Yeast genes and human disease. Nature. 379:1996;589-590.
15. Banfi S, Borsani G, Rossi E, Bernard L, Guffanti A, Rubboli F, Marchitiello A, Giglio S, Coluccia E, Zollo M, Zuffardi O, Ballabio A. Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching. Nature Genet. 13:1996;167-174.
16. Campuzano V, Montermini L, Molto M D, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A. Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 271:1996;1423-1427.
17. Gibson T J, Koonin E V, Musco G, Pastore A, Bork P. Friedreich's ataxia protein: Phylogenetic evidence for mitochondrial dysfunction. Trends Neurosci. 19:1996;465-468.
18. Grivell L A, Artal-Sanz M, Hakkaart G, de Jong L, Nijtmans L G, van Oosterum K, Siep M, van der Spek H. Mitochondrial assembly in yeast. FEBS Lett. 452:1999;57-60.
19. Suomalainen A, Kaukonen J, Amati P, Timonen R, Haltia M, Weissenbach J, Zeviani M, Somer H, Peltonen L. An autosomal locus predisposing to deletions of mitochondrial DNA. Nature Genet. 9:1995;146-151.
20. Kaukonen J A, Amati P, Suomalainen A, Rötig A, Piscaglia M G, Salvi F, Weissenbach J, Fratta G, Comi G, Peltonen L, Zeviani M. An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p. Am J Hum Genet. 58:1996;763-769.
21. Kaukonen J, Zeviani M, Comi G P, Piscaglia M G, Peltonen L, Suomalainen A. A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia. Am J Hum Genet. 65:1999;256-261.