C7orf30 is necessary for biogenesis of the large subunit of the mitochondrial ribosome

Nucleic Acids Research

Volumn 40, Issue 9, 2012, Pages 4097-4109

  Rorbach, Joanna ^a   Gammage, Payam A ^a   Minczuk, Michal ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; MITOCHONDRIAL RNA; MUTANT PROTEIN; PROTEIN C7ORF30; RIBOSOME PROTEIN; RIBOSOME RNA; UNCLASSIFIED DRUG;

ARTICLE; BIOGENESIS; CELL MATURATION; CELLULAR DISTRIBUTION; CONTROLLED STUDY; GENE OVEREXPRESSION; HUMAN; HUMAN CELL; LARGE RIBOSOMAL SUBUNIT; MITOCHONDRIAL RESPIRATION; MITOCHONDRION; MOLECULAR STABILITY; OXIDATIVE PHOSPHORYLATION; PRIORITY JOURNAL; PROTEIN DETERMINATION; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN LOCALIZATION; RNA INTERFERENCE; RNA TRANSLATION; STEADY STATE;

AMINO ACID SEQUENCE; CELL LINE; HUMANS; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; OXIDATIVE PHOSPHORYLATION; PROTEIN BIOSYNTHESIS; PROTEIN STRUCTURE, TERTIARY; RIBOSOMAL PROTEINS; RIBOSOME SUBUNITS, LARGE, EUKARYOTIC; RNA INTERFERENCE;

EID: 84861392482     PISSN: 03051048     EISSN: 13624962     Source Type: Journal    
DOI: 10.1093/nar/gkr1282     Document Type: Article

References (43)

1. Calvo, S., Jain, M., Xie, X., Sheth, S.A., Chang, B., Goldberger, O.A., Spinazzola, A., Zeviani, M., Carr, S.A. and Mootha, V.K. (2006) Systematic identification of human mitochondrial disease genes through integrative genomics. Nat. Genet., 38, 576-582.
2. O'Brien, T.W. (2003) Properties of human mitochondrial ribosomes. IUBMB Life, 55, 505-513. (Pubitemid 37462706)
3. Jacobs, H.T. and Turnbull, D.M. (2005) Nuclear genes and mitochondrial translation: a new class of genetic disease. Trends Genet., 21, 312-314. (Pubitemid 40726384)
4. Smits, P., Smeitink, J. and van den Heuvel, L. (2010) Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficiencies. J. Biomed. Biotechnol., 2010, 737385.
5. Weraarpachai, W., Antonicka, H., Sasarman, F., Seeger, J., Schrank, B., Kolesar, J.E., Lochmuller, H., Chevrette, M., Kaufman, B.A., Horvath, R. et al. (2009) Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. Nat. Genet., 41, 833-837.
6. Antonicka, H., Ostergaard, E., Sasarman, F., Weraarpachai, W., Wibrand, F., Pedersen, A.M., Rodenburg, R.J., van der Knaap, M.S., Smeitink, J.A., Chrzanowska-Lightowlers, Z.M. et al. (2010) Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. Am. J. Hum. Genet., 87, 115-122.
7. Atorino, L., Silvestri, L., Koppen, M., Cassina, L., Ballabio, A., Marconi, R., Langer, T. and Casari, G. (2003) Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. J. Cell Biol., 163, 777-787. (Pubitemid 37517885)
8. Nolden, M., Ehses, S., Koppen, M., Bernacchia, A., Rugarli, E.I. and Langer, T. (2005) The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria. Cell, 123, 277-289. (Pubitemid 41457217)
9. Jiang, M., Sullivan, S.M., Walker, A.K., Strahler, J.R., Andrews, P.C. and Maddock, J.R. (2007) Identification of novel Escherichia coli ribosome-associated proteins using isobaric tags and multidimensional protein identification techniques. J. Bacteriol., 189, 3434-3444. (Pubitemid 46668807)
10. Walbot, V. and Coe, E.H. (1979) Nuclear gene iojap conditions a programmed change to ribosome-less plastids in Zea mays. Proc. Natl Acad. Sci. USA, 76, 2760-2764. (Pubitemid 9213160)
11. Siemenroth, A., Borner, T. and Metzger, U. (1980) Biochemical studies on the iojap mutant of maize. Plant Physiol., 65, 1108-1110.
12. Fukada, K., Zhang, F., Vien, A., Cashman, N.R. and Zhu, H. (2004) Mitochondrial proteomic analysis of a cell line model of familial amyotrophic lateral sclerosis. Mol. Cell. Proteomics, 3, 1211-1223.
13. Chevallet, M., Lescuyer, P., Diemer, H., van Dorsselaer, A., Leize-Wagner, E. and Rabilloud, T. (2006) Alterations of the mitochondrial proteome caused by the absence of mitochondrial DNA: a proteomic view. Electrophoresis, 27, 1574-1583.
14. Minczuk, M., He, J., Duch, A.M., Ettema, T.J., Chlebowski, A., Dzionek, K., Nijtmans, L.G., Huynen, M.A. and Holt, I.J. (2011) TEFM (c17orf42) is necessary for transcription of human mtDNA. Nucleic Acids Res., 39, 4284-4299.
15. Richter, R., Rorbach, J., Pajak, A., Smith, P.M., Wessels, H.J., Huynen, M.A., Smeitink, J.A., Lightowlers, R.N. and Chrzanowska-Lightowlers, Z.M. (2010) A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome. EMBO J., 29, 1116-1125.
16. Minczuk, M., Kolasinska-Zwierz, P., Murphy, M.P. and Papworth, M.A. (2010) Construction and testing of engineered zinc-finger proteins for sequence-specific modification of mtDNA. Nat. Protoc., 5, 342-356.
17. Jiang, M., Datta, K., Walker, A., Strahler, J., Bagamasbad, P., Andrews, P.C. and Maddock, J.R. (2006) The Escherichia coli GTPase CgtAE is involved in late steps of large ribosome assembly. J. Bacteriol., 188, 6757-6770. (Pubitemid 44497887)
18. Zeng, X., Barros, M.H., Shulman, T. and Tzagoloff, A. (2008) ATP25, a new nuclear gene of Saccharomyces cerevisiae required for expression and assembly of the Atp9p subunit of mitochondrial ATPase. Mol. Biol. Cell, 19, 1366-77. (Pubitemid 351805092)
19. Murzin, A.G., Brenner, S.E., Hubbard, T. and Chothia, C. (1995) SCOP: a structural classification of proteins database for the investigation of sequences and structures. J. Mol. Biol., 247, 536-540.
20. Rorbach, J., Nicholls, T.J. and Minczuk, M. (2011) PDE12 removes mitochondrial RNA poly(A) tails and controls translation in human mitochondria. Nucleic Acids Res., 39, 7750-7763.
21. Towpik, J. (2005) Regulation of mitochondrial translation in yeast. Cell Mol. Biol. Lett., 10, 571-594. (Pubitemid 43161684)
22. Schmitz-Linneweber, C. and Small, I. (2008) Pentatricopeptide repeat proteins: a socket set for organelle gene expression. Trends Plant Sci., 13, 663-670.
23. Mootha, V.K., Lepage, P., Miller, K., Bunkenborg, J., Reich, M., Hjerrild, M., Delmonte, T., Villeneuve, A., Sladek, R., Xu, F. et al. (2003) Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. Proc. Natl Acad. Sci. USA, 100, 605-610. (Pubitemid 36126099)
24. Xu, F., Morin, C., Mitchell, G., Ackerley, C. and Robinson, B.H. (2004) The role of the LRPPRC (leucine-rich pentatricopeptide repeat cassette) gene in cytochrome oxidase assembly: mutation causes lowered levels of COX (cytochrome c oxidase) I and COX III mRNA. Biochem. J., 382, 331-336. (Pubitemid 39141597)
25. Sasarman, F., Brunel-Guitton, C., Antonicka, H., Wai, T. and Shoubridge, E.A. (2010) LRPPRC and SLIRP interact in a ribonucleoprotein complex that regulates posttranscriptional gene expression in mitochondria. Mol. Biol. Cell, 21, 1315-1323.
26. Rackham, O., Davies, S.M., Shearwood, A.M., Hamilton, K.L., Whelan, J. and Filipovska, A. (2009) Pentatricopeptide repeat domain protein 1 lowers the levels of mitochondrial leucine tRNAs in cells. Nucleic Acids Res., 37, 5859-5867.
27. Xu, F., Ackerley, C., Maj, M.C., Addis, J.B., Levandovskiy, V., Lee, J., Mackay, N., Cameron, J.M. and Robinson, B.H. (2008) Disruption of a mitochondrial RNA-binding protein gene results in decreased cytochrome b expression and a marked reduction in ubiquinol-cytochrome c reductase activity in mouse heart mitochondria. Biochem. J., 416, 15-26.
28. Davies, S.M., Rackham, O., Shearwood, A.M., Hamilton, K.L., Narsai, R., Whelan, J. and Filipovska, A. (2009) Pentatricopeptide repeat domain protein 3 associates with the mitochondrial small ribosomal subunit and regulates translation. FEBS Lett., 583, 1853-1858.
29. Brzezniak, L.K., Bijata, M., Szczesny, R.J. and Stepien, P.P. (2011) Involvement of human ELAC2 gene product in 30 end processing of mitochondrial tRNAs. RNA Biol., 8, 616-626.
30. Hage, A.E. and Tollervey, D. (2004) A surfeit of factors: why is ribosome assembly so much more complicated in eukaryotes than bacteria? RNA Biol., 1, 10-15.
31. Dennerlein, S., Rozanska, A., Wydro, M., Chrzanowska-Lightowlers, Z.M. and Lightowlers, R.N. (2010) Human ERAL1 is a mitochondrial RNA chaperone involved in the assembly of the 28S small mitochondrial ribosomal subunit. Biochem. J., 430, 551-558.
32. Uchiumi, T., Ohgaki, K., Yagi, M., Aoki, Y., Sakai, A., Matsumoto, S. and Kang, D. (2010) ERAL1 is associated with mitochondrial ribosome and elimination of ERAL1 leads to mitochondrial dysfunction and growth retardation. Nucleic Acids Res., 38, 5554-5568.
33. Metodiev, M.D., Lesko, N., Park, C.B., Camara, Y., Shi, Y., Wibom, R., Hultenby, K., Gustafsson, C.M. and Larsson, N.G. (2009) Methylation of 12S rRNA is necessary for in vivo stability of the small subunit of the mammalian mitochondrial ribosome. Cell Metab., 9, 386-397.
34. Koc, E.C., Burkhart, W., Blackburn, K., Moyer, M.B., Schlatzer, D.M., Moseley, A. and Spremulli, L.L. (2001) The large subunit of the mammalian mitochondrial ribosome. Analysis of the complement of ribosomal proteins present. J. Biol. Chem., 276, 43958-43969.
35. Uicker, W.C., Schaefer, L. and Britton, R.A. (2006) The essential GTPase RbgA (YlqF) is required for 50S ribosome assembly in Bacillus subtilis. Mol. Microbiol., 59, 528-540.
36. Barrientos, A., Korr, D., Barwell, K.J., Sjulsen, C., Gajewski, C.D., Manfredi, G., Ackerman, S. and Tzagoloff, A. (2003) MTG1 codes for a conserved protein required for mitochondrial translation. Mol. Biol. Cell, 14, 2292-2302. (Pubitemid 36724321)
37. Kolanczyk, M., Pech, M., Zemojtel, T., Yamamoto, H., Mikula, I., Calvaruso, M.A., van den Brand, M., Richter, R., Fischer, B., Ritz, A. et al. (2011) NOA1 is an essential GTPase required for mitochondrial protein synthesis. Mol. Biol. Cell, 22, 1-11.
38. Roberti, M., Polosa, P.L., Bruni, F., Manzari, C., Deceglie, S., Gadaleta, M.N. and Cantatore, P. (2009) The MTERF family proteins: mitochondrial transcription regulators and beyond. Biochim. Biophys. Acta, 1787, 303-311.
39. Camara, Y., Asin-Cayuela, J., Park, C.B., Metodiev, M.D., Shi, Y., Ruzzenente, B., Kukat, C., Habermann, B., Wibom, R., Hultenby, K. et al. (2011) MTERF4 regulates translation by targeting the methyltransferase NSUN4 to the mammalian mitochondrial ribosome. Cell Metab., 13, 527-539.
40. Nierhaus, K.H. (2005) Bacterial Ribosomes: Assembly. Encyclopedia of Life Sciences. John Wiley & Sons.
41. Wanschers, B.F.J., Szklarczyk, R., Pajak, A., van den Brand, M.A.M., Gloerich, J., Rodenburg, R.J.T., Lightowlers, R.N., Nijtmans, L.G. and Huynen, M.A. (2012) C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation. Nucleic Acids Res., 40, 4040-4051.
42. Finn, R.D., Mistry, J., Tate, J., Coggill, P., Heger, A., Pollington, J.E., Gavin, O.L., Gunasekaran, P., Ceric, G., Forslund, K. et al. (2010) The Pfam protein families database. Nucleic Acids Res., 38, D211-D222.
43. Kuchta, K., Knizewski, L., Wyrwicz, L.S., Rychlewski, L. and Ginalski, K. (2009) Comprehensive classification of nucleotidyltransferase fold proteins: identification of novel families and their representatives in human. Nucleic Acids Res., 37, 7701-7714.