Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain

Genomics

Volumn 54, Issue 3, 1998, Pages 494-504

  Petruzzella, Vittoria ^a   Tiranti, Valeria ^b   Fernandez, Patricio ^a   Ianna, Paola ^b   Carrozzo, Rosalba ^a   Zeviani, Massimo ^b  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; CYTOCHROME C OXIDASE;

AMINO ACID SEQUENCE; ARTICLE; CHROMOSOMAL LOCALIZATION; COMPUTER ANALYSIS; EXPRESSED SEQUENCE TAG; GENE CONTROL; GENE FUNCTION; GENE TARGETING; HUMAN; HUMAN CELL; LEIGH DISEASE; MITOCHONDRIAL RESPIRATION; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RESPIRATORY CHAIN; SEQUENCE HOMOLOGY;

EID: 0032534869     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1998.5580     Document Type: Article

References (40)

1. Adams P. L., Lightowlers R. N., Turnbull D. M. Molecular analysis of cytochromec. Ann. Neurol. 41:1997;268-270.
2. Altamura N., Capitanio N., Bonnefoy N., Papa S., Dujardin G. TheSaccharomyces cerevisiaec. FEBS Lett. 382:1996;111-115.
3. Amaravadi R., Glerum D. M., Tzagoloff A. Isolation of a cDNA encoding the human homolog of COX17, a yeast gene essential for mitochondrial copper recruitment. Hum. Genet. 99:1997;329-333.
4. Anderson S., Bankier A. T., Barrell B. G., de Bruijn M. H. L., Coulson A. R., Drouin J., Eperon I. C., Nierlich D. P., Roe B. A., Sanger F., Schreier P. H., Smith A. J. H., Staden R., Young I. G. Sequence and organization of the human mitochondrial genome. Nature. 290:1981;457-465.
5. Antonacci R., Marzella R., Finelli P., Lonoce A., Forabosco A., Archidiacono N., Rocchi M. A panel of subchromosomal painting libraries covering over 300 regions of the human chromosome complement. Cytogenet. Cell. Genet. 68:1995;25-32.
6. Arnaudo E., Hirano M., Seelan R. S., Milatovich A., Hsieh C. L., Fabrizi G. M., Grossman L. I., Francke U., Schon E. A. Tissue-specific expression and chromosome assignment of genes specifying two isoforms of subunit VIIa of human cytochromec. Gene. 119:1992;299-305.
7. Attardi G., Schatz G. Biogenesis of mitochondria. Annu. Rev. Cell. Biol. 4:1988;289-333.
8. Babcock G. T., Wikstrom M. Oxygen activation and the conservation of energy in cell respiration. Nature. 356:1992;301-309.
9. -Saccharomyces cerevisiae. Proc. Natl. Acad. Sci. USA. 91:1994;11978-11982.
10. Buchwald P., Krummeck G., Rodel G. Immunological identification of yeastSCO1. Mol. Gen. Genet. 229:1991;413-420.
11. DiMauro S., Servidei S., Zeviani M., DiRocco M., DeVivo D. C., DiDonato S., Uziel G., Berry K., Hoganson G., Johnsen S. D., Johnson P. C. Cytochromec. Ann. Neurol. 22:1987;498-506.
12. Fabrizi G. M., Sadlock J., Hirano M., Mita S., Koga Y., Rizzuto R., Zeviani M., Schon E. A. Differential expression of genes specifying two isoforms of subunit VIa of human cytochromec. Gene. 119:1992;307-312.
13. Fernandez-Silva P., Martinez-Azorin F., Micol V., Attardi G. The human mitochondrial transcription termination factor (mTERF) is a multizipper protein but binds to DNA as a monomer, with evidence pointing to intramolecular leucine zipper interactions. EMBO J. 16:1997;1066-1079.
14. Fölsch H., Guiard B., Neupert W., Stuart R. A. Internal targeting signal of the BCS1 protein: A novel mechanism of import into mitochondria. EMBO J. 15:1996;479-487.
15. Glerum D. M., Tzagoloff A. Isolation of a human cDNA for heme A:farnesyltransferase by functional complementation of a yeast cox10 mutant. Proc. Natl. Acad. Sci. USA. 91:1994;8452-8456.
16. Glerum D. M., Muroff I., Jin C., Tzagoloff A. COX15 codes for a mitochondrial protein essential for the assembly of yeast cytochrome oxidase. J. Biol. Chem. 272:1997;19088-19094.
17. Glerum D. M., Shtanko A., Tzagoloff A. Characterization of COX17, a yeast gene involved in copper metabolism and assembly of cytochrome oxidase. J. Biol. Chem. 271:1996;14504-14509.
18. Grossman L. I., Lomax M. I. Nuclear genes for cytochromec. Biochim. Biophys. Acta. 1352:1997;174-192.
19. Iwata S., Ostermeier C., Ludwig B., Michel H. Structure at 2.8 Å resolution of cytochromecParacoccus denitrificans. Nature. 376:1995;660-669.
20. Kunau Beyer A., Franken T., Gotte K., Marzioch M., Saidowsky J., Skaletz-Rorowski A., Wiebel F. F. Two complementary approaches to study peroxisome biogenesis inSaccharomyces cerevisiae: Biochimie. 75:1993;209-224.
21. Laemmli U. K. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature. 227:1970;680-685.
22. +. Curr. Genet. 25:1994;299-304.
23. Munaro M., Tiranti V., Sandonà D., Lamantea E., Uziel G., Bisson R., Zeviani M. A single cell complementation class is common to several cases of cytochromec. Hum. Mol. Genet. 6:1997;221-228.
24. Nakai K., Kanehisa M. A knowledge base for predicting protein localization sites in eukaryotic cells. Genomics. 14:1992;897-911.
25. Nobrega F. G., Nobrega M. P., Tzagoloff A. BCS1,Saccharomyces cerevisiae. EMBO J. 11:1992;3821-3829.
26. Nobrega M. P., Nobrega F. G., Tzagoloff A. COX10 codes for a protein homologous to the ORF1 product ofParacoccus denitrificans. J. Biol. Chem. 265:1990;14220-14226.
27. Parfait B., Percheron A., Chretien D., Rustin P., Munnich A., Rotig A. No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency. Hum. Genet. 101:1997;247-250.
28. Poyton R. O., McEwen J. E. Crosstalk between nuclear and mitochondrial genomes. Annu. Rev. Biochem. 65:1996;563-607.
29. Saraste M. Structural features of cytochrome oxidase. Q. Rev. Biophys. 23:1990;331-366.
30. Schulze M., Rodel G. SCO1,c. Mol. Gen. Genet. 211:1988;492-498.
31. Sirrenberg C., Endres M., Fölsch H., Stuart R. A., Neupert W., Brunner M. Carrier protein import into mitochondria mediated by the intermembrane proteins Tim10/Mrs11 and Tim12/Mrs5. Nature. 391:1998;912-915.
32. Taanman J. W. Human cytochromec. J. Bioenerg. Biomembr. 29:1997;151-163.
33. Tiranti V., Munaro M., Sandonà D., Lamantea E., Rimoldi M., DiDonato S., Bisson R., Zeviani M. Nuclear DNA origin of cytochromec. Hum. Mol. Genet. 4:1995;2017-2023.
34. Tiranti V., Savoia A., Forti F., D'Apolito M. F., Centra M., Rocchi M., Zeviani M. Identification of the gene encoding the human mitochondrial RNA polymerase (h-mtRPOL) by cyberscreening of the expressed sequence tags database. Hum. Mol. Genet. 6:1997;615-625.
35. Tsukihara T., Aoyama H., Yamashita E., Tomizaki T., Yamaguchi H., Shinzawa-Itoh K., Nakashima R., Yaono R., Yoshikawa S. The whole structure of the 13-subunit oxidized cytochromec. Science. 272:1996;1136-1144.
36. Tzagoloff A., Capitanio N., Nobrega M. P., Gatti D. Cytochrome oxidase assembly in yeast requires the product of COX11, a homolog of theP. denitrificans. EMBO J. 9:1990;2759-2764.
37. Tzagoloff A., Dieckmann C. L. PET genes ofSaccharomyces cerevisiae. Microbiol. Rev. 54:1990;211-225.
38. Tzagoloff A., Nobrega M., Gorman N., Sinclair P. On the functions of the yeast COX10 and COX11 gene products. Biochem. Mol. Biol. Int. 31:1993;593-598.
39. Wilusz J., Pettine S. M., Shenk T. Functional analysis of point mutations in the AAUAAA motif of the SV40 late polyadenylation signal. Nucleic Acids Res. 17:1989;3899-3908.
40. Zeviani M., Tiranti V., Piantadosi C. Mitochondrial disorders. Medicine. 77:1998;59-72.