The 7472insC mtDNA mutation impairs 5′ and 3′ processing of tRNA Ser(UCN)

Biochemical and Biophysical Research Communications

Volumn 322, Issue 3, 2004, Pages 803-813

  Toompuu, Marina ^a,b   Levinger, Louis L ^c   Nadal, Anna ^d   Gomez, Jordi ^d   Jacobs, Howard T ^a,e  

^a UNIVERSITY OF TAMPERE   (Finland)

^b NATIONAL INSTITUTE OF CHEMICAL PHYSICS AND BIOPHYSICS   (Estonia)

^c CITY UNIVERSITY OF NEW YORK   (United States)

^d HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^e UNIVERSITY OF GLASGOW   (United Kingdom)

Author keywords

Mitochondria; Mitochondrial disease; Mitochondrial DNA; Transfer RNA

Indexed keywords

MITOCHONDRIAL DNA; RIBONUCLEASE P; SERINE TRANSFER RNA;

ARTICLE; CONTROLLED STUDY; FEMALE; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; MOLECULAR BIOLOGY; MOLECULAR DYNAMICS; MOLECULAR MECHANICS; MUTATION; PRIORITY JOURNAL; RNA PROCESSING;

5' UNTRANSLATED REGIONS; BASE SEQUENCE; BONE NEOPLASMS; CELL LINE, TUMOR; DNA PRIMERS; DNA, MITOCHONDRIAL; HUMANS; MOLECULAR SEQUENCE DATA; MUTAGENESIS; NUCLEIC ACID CONFORMATION; OSTEOSARCOMA; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA PROCESSING, POST-TRANSCRIPTIONAL; RNA, TRANSFER, SER;

EID: 4444381489     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbrc.2004.07.181     Document Type: Article

References (38)

1. H.T. Jacobs Disorders of mitochondrial protein synthesis Hum. Mol. Genet. 12 2003 R293 R301
2. F.M. Reid, G.A. Vernham, and H.T. Jacobs A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness Hum. Mutat. 3 1994 243 247
3. N. Fischel-Ghodsian, T.R. Prezant, P. Fournier, I.A. Stewart, and M. Maw Mitochondrial mutation associated with nonsyndromic deafness Am. J. Otolaryngol. 16 1995 403 408
4. V. Tiranti, P. Chariot, F. Carella, A. Toscano, P. Soliveri, P. Girlanda, F. Carrara, G.M. Fratta, F.M. Reid, C. Mariotti, and M. Zeviani Maternally inherited hearing-loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNA(Ser(UCN)) gene Hum. Mol. Genet. 4 1995 1421 1427
5. K. Verhoeven, R.J. Ensink, V. Tiranti, P.L. Huygen, D.F. Johnson, I. Schatteman, L. Van Laer, M. Verstreken, P. Van de Heyning, N. Fischel-Ghodsian, M. Zeviani, C.W. Cremers, P.J. Willems, and G. Van Camp Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene Eur. J. Hum. Genet. 7 1999 45 51
6. T.P. Hutchin, M.J. Parker, I.D. Young, A.C. Davis, L.J. Pulleyn, J. Deeble, N.J. Lench, A.F. Markham, and R.F. Mueller A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment J. Med. Genet. 37 2000 692 694
7. F.J. del Castillo, M. Villamar, M.A. Moreno-Pelayo, J.J. Almela, C. Morera, I. Adiego, F. Moreno, and I. del Castillo Maternally inherited non-syndromic hearing impairment in a Spanish family with the 7510T>C mutation in the mitochondrial tRNA(Ser(UCN)) gene J. Med. Genet. 39 2002 e82
8. C.M. Sue, K. Tanji, G. Hadjigeorgiou, A.L. Andreu, I. Nishino, S. Krishna, C. Bruno, N. Hirano, S. Shanske, E. Bonilla, N. Fischel-Ghodsian, S. DiMauro, and R. Friedman Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene Neurology 52 1999 1905 1908
9. E. Chapiro, D. Feldmann, F. Denoyelle, D. Sternberg, C. Jardel, M.M. Eliot, D. Bouccara, D. Weil, E.N. Garabedian, R. Couderc, C. Petit, and S. Marlin Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor Eur. J. Hum. Genet. 10 2002 851 856
10. M. Jaksch, T. Klopstock, G. Kurlemann, M. Dorner, S. Hofmann, S. Kleinle, S. Hegemann, M. Weissert, J. Muller-Hocker, D. Pongratz, and K.D. Gerbitz Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene Ann. Neurol. 44 1998 635 640
11. K.B. Sevior, A. Hatamochi, I.A. Stewart, Y. Bykhovskaya, D.R. Allen-Powell, N. Fischel-Ghodsian, and M.A. Maw Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness Am. J. Med. Genet. 75 1998 179 185
12. M. Toompuu, V. Tiranti, M. Zeviani, and H.T. Jacobs Molecular phenotype of the np7472 deafness-associated mitochondrial mutation in osteosarcoma cell cybrids Hum. Mol. Genet. 8 1999 2275 2283
13. M. Toompuu, T. Yasukawa, T. Suzuki, T. Hakkinen, J.N. Spelbrink, K. Watanabe, and H.T. Jacobs The 7472insC mitochondrial DNA mutation impairs the synthesis and extent of aminoacylation of tRNASer(UCN) but not its structure or rate of turnover J. Biol. Chem. 277 2002 22240 22250
14. D. Ojala, J. Montoya, and G. Attardi tRNA punctuation model of RNA processing in human mitochondria Nature 290 1981 470 474
15. R.S. Puranam, and G. Attardi The RNase P associated with HeLa cell mitochondria contains an essential RNA component identical in sequence to that of the nuclear RNase P Mol. Cell. Biol. 21 2001 548 561
16. E.B. Dubrovsky, V.A. Dubrovskaya, L. Levinger, S. Schiffer, and A. Marchfelder Drosophila RNase Z processes mitochondrial and nuclear pre-tRNA 3′ ends in vivo Nucleic Acids Res. 32 2004 255 262
17. L. Levinger, O. Jacobs, and M. James In vitro 3′-end endonucleolytic processing defect in a human mitochondrial tRNA(Ser(UCN)) precursor with the U7445C substitution, which causes non-syndromic deafness Nucleic Acids Res. 29 2001 4334 4340
18. F.M. Reid, A. Rovio, I.J. Holt, and H.T. Jacobs Molecular phenotype of a human lymphoblastoid cell-line homoplasmic for the np7445 deafness-associated mitochondrial mutation Hum. Mol. Genet. 6 1997 443 449
19. M.X. Guan, J.A. Enriquez, N. Fischel-Ghodsian, R.S. Puranam, C.P. Lin, M.A. Maw, and G. Attardi The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNA(Ser(UCN)) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression Mol. Cell. Biol. 18 1998 5868 5879
20. Z. Li, and M.P. Deutscher Maturation pathways for Escherichia coli tRNA precursors: a random multienzyme process in vivo Cell 86 1996 503 512
21. H. Schürer, S. Schiffer, A. Marchfelder, and M. Mörl This is the end: processing, editing and repair at the tRNA 3′-terminus Biol. Chem. 382 2001 1147 1156
22. L.A. Bindoff, N. Howell, J. Poulton, D.A. McCullough, K.J. Morten, R.N. Lightowlers, D.M. Turnbull, and K. Weber Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism J. Biol. Chem. 268 1993 19559 19564
23. T. Nagaike, T. Suzuki, Y. Tomari, C. Takemoto-Hori, F. Negayama, K. Watanabe, and T. Ueda Identification and characterization of mammalian mitochondrial tRNA nucleotidyltransferases J. Biol. Chem. 276 2001 40041 40049
24. S. Anderson, A.T. Bankier, B.G. Barrell, M.H. de Bruijn, A.R. Coulson, J. Drouin, I.C. Eperon, D.P. Nierlich, B.A. Roe, F. Sanger, P.H. Schreier, A.J. Smith, R. Staden, and I.G. Young Sequence and organization of the human mitochondrial genome Nature 290 1981 457 465
25. G.V. Börner, M. Zeviani, V. Tiranti, F. Carrara, S. Hoffmann, K.D. Gerbitz, H. Lochmuller, D. Pongratz, T. Klopstock, A. Melberg, E. Holme, and S. Pääbo Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients Hum. Mol. Genet. 9 2000 467 475
26. A. Nadal, M. Martell, J.R. Lytle, A.J. Lyons, H.D. Robertson, B. Cabot, J.I. Esteban, R. Esteban, J. Guardia, and J. Gomez Specific cleavage of hepatitis C virus RNA genome by human RNase P J. Biol. Chem. 277 2002 30606 30613
27. W. Rossmanith, and T. Potuschak Difference between mitochondrial RNase P and nuclear RNase P Mol. Cell. Biol. 21 2001 8236 8237
28. C.J. Doersen, C. Guerrier-Takada, S. Altman, and G. Attardi Characterization of an RNase P activity from HeLa cell mitochondria. Comparison with the cytosol RNase P activity J. Biol. Chem. 260 1985 5942 5949
29. A.S. Reichert, and M. Morl Repair of tRNAs in metazoan mitochondria Nucleic Acids Res. 28 2000 2043 2048
30. M. Nashimoto, M. Tamura, and R.L. Kaspar Selection of cleavage site by mammalian tRNA 3′ processing endoribonuclease J. Mol. Biol. 287 1999 727 740
31. N.H. Zahler, E.L. Christian, and M.E. Harris Recognition of the 5′ leader of pre-tRNA substrates by the active site of ribonuclease P RNA 9 2003 734 745
32. M. Brannvall, B.M. Fredrik Pettersson, and L.A. Kirsebom The residue immediately upstream of the RNase P cleavage site is a positive determinant Biochimie 84 2002 693 703
33. M.E. Harris, and E.L. Christian Recent insights into the structure and function of the ribonucleoprotein enzyme ribonuclease P Curr. Opin. Struct. Biol. 13 2003 325 333
34. Y. Yuan, and S. Altman Substrate recognition by human RNase P: identification of small, model substrates for the enzyme EMBO J. 14 1995 159 168
35. S. Schiffer, S. Rosch, and A. Marchfelder Recombinant RNase Z does not recognize CCA as part of the tRNA and its cleavage efficiency is influenced by acceptor stem length Biol. Chem. 384 2003 333 342
36. S. Schiffer, M. Helm, A. Theobald-Dietrich, R. Giege, and A. Marchfelder The plant tRNA 3′ processing enzyme has a broad substrate spectrum Biochemistry 40 2001 8264 8472
37. L. Levinger, I. Oestreich, C. Florentz, and M. Morl Pathogenesis- associated mutation in human mitochondrial tRNALeu(UUR) leads to reduced 3′-end processing and CCA addition J. Mol. Biol. 337 2004 535 544
38. L. Levinger, R. Giege, and C. Florentz Pathology-related substitutions in human mitochondrial tRNA(Ile) reduce precursor 3′ end processing efficiency in vitro Nucleic Acids Res. 31 2003 1904 1912