Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease

Proceedings of the National Academy of Sciences of the United States of America

Volumn 102, Issue 20, 2005, Pages 7127-7132

  Kirino, Yohei ^a   Goto, Yu Ichi ^b   Campos, Yolanda ^c   Arenas, Joaquin ^c   Suzuki, Tsutomu ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^c HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

Author keywords

Mitochondrial tRNA; Taurine modification

Indexed keywords

PROTEIN 5 TAURINOMETHYLYURIDINE; TRANSFER RNA; UNCLASSIFIED DRUG; URIDINE DERIVATIVE;

ANTICODON; ARTICLE; BRAIN DISEASE; CLINICAL FEATURE; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENE MUTATION; HUMAN; HUMAN TISSUE; LACTIC ACIDOSIS; MELAS SYNDROME; MITOCHONDRIAL MYOPATHY; PRIORITY JOURNAL; PROTEIN MODIFICATION; RNA TRANSLATION; SYMPTOM;

ANTICODON; BASE PAIRING; BASE SEQUENCE; DNA PRIMERS; DNA, MITOCHONDRIAL; HELA CELLS; HUMANS; MELAS SYNDROME; MOLECULAR SEQUENCE DATA; PHENOTYPE; POINT MUTATION; RNA, TRANSFER, LEU; TAURINE;

EID: 18844430007     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.0500563102     Document Type: Article

References (36)

1. Schon, E. A., Bonilla, E. & DiMauro, S. (1997) J. Bioenerg. Biomembr. 29, 131-149.
2. Anonymous (2003) Neuromuscul. Disord. 13, 277-282.
3. Goto, Y., Nonaka, I. & Horai, S. (1990) Nature 348, 651-653.
4. Kobayashi, Y., Momoi, M. Y., Tominaga, K., Momoi, T., Nihei, K., Yanagisawa, M., Kagawa, Y. & Ohta, S. (1990) Biochem. Biophys. Res. Commun. 173, 816-822.
5. Goto, Y., Nonaka, I. & Horai, S. (1991) Biochim. Biophys. Acta 1097, 238-240.
6. Sakuta, R., Goto, Y., Horai, S. & Nonaka, I. (1993) J. Neurol. Sci. 115, 158-160.
7. Campos, Y., Garcia, A., del Hoyo, P., Jara, P., Martin, M. A., Rubio, J. C., Berbel, A., Barbera, J. R., Ribacoba, R., Astudillo, A., et al. (2003) Neuromuscul. Disord. 13, 416-420.
8. Goto, Y., Tsugane, K., Tanabe, Y., Nonaka, I. & Horai, S. (1994) Biochem. Biophys. Res. Commun. 202, 1624-1630.
9. King, M. P. & Attardi, G. (1989) Science 246, 500-503.
10. Hayashi, J., Ohta, S., Kikuchi, A., Takemitsu, M., Goto, Y. & Nonaka, I. (1991) Proc. Natl. Acad. Sci. USA 88, 10614-10618.
11. Chomyn, A., Martinuzzi, A., Yoneda, M., Daga, A., Hurko, O., Johns, D., Lai, S. T., Nonaka, I., Angelini, C. & Attardi, G. (1992) Proc. Natl. Acad. Sci. USA 89, 4221-4225.
12. Hayashi, J., Ohta, S., Takai, D., Miyabayashi, S., Sakuta, R., Goto, Y. & Nonaka, I. (1993) Biochem. Biophys. Res. Commun. 197, 1049-1055.
13. Hess, J. F., Parisi, M. A., Bennett, J. L. & Clayton, D. A. (1991) Nature 351, 236-239.
14. Flierl, A., Reichmann, H. & Seibel, P. (1997) J. Biol. Chem. 272, 27189-27196.
15. Chomyn, A., Enriquez, J. A., Micol, V., Fernandez-Silva, P. & Attardi, G. (2000) J. Biol. Chem. 275, 19198-19209.
16. Wittenhagen, L. M. & Kelley, S. O. (2002) Nat. Struct. Biol. 9, 586-590.
17. Dunbar, D. R., Moonie, P. A., Zeviani, M. & Holt, I. J. (1996) Hum. Mol. Genet. 5, 123-129.
18. Suzuki, T., Suzuki, T., Wada, T., Saigo, K. & Watanabe, K. (2002) EMBO J. 21, 6581-6589.
19. Yasukawa, T., Suzuki, T., Suzuki, T., Ueda, T., Ohta, S. & Watanabe, K. (2000) J. Biol. Chem. 275, 4251-4257.
20. Shoffner, J. M., Lott, M. T., Lezza, A. M., Seibel, P., Ballinger, S. W. & Wallace, D. C. (1990) Cell 61, 931-937.
21. Yasukawa, T., Suzuki, T., Ishii, N., Ueda, T., Ohta, S. & Watanabe, K. (2000) FEBS Lett. 467, 175-178.
22. Suzuki, T. (2005) in Fine-Tuning of RNA Functions by Modification and Editing, Topics in Current Genetics, ed. Grosjean, H. (Springer, New York), Vol. 12, pp. 24-69.
23. Yokoyama, S. & Nishimura, S. (1995) in tRNA: Structure, Biosynthesis, and Function, eds. Soll, D. & Rajbandary, U. L. (Am. Soc. Microbiol., Washington, DC), pp. 207-224.
24. Björk, G. R. (1995) in tRNA: Structure, Biosynthesis, and Function, eds. Soll, D. & Rajbandary, U. L. (Am. Soc. Microbiol., Washington, DC), pp. 165-205.
25. Kirino, Y., Yasukawa, T., Ohta, S., Akira, S., Ishihara, K., Watanabe, K. & Suzuki, T. (2004) Proc. Natl. Acad. Sci. USA 101, 15070-15075.
26. Goto, Y., Tojo, M., Tohyama, J., Horai, S. & Nonaka, I. (1992) Ann. Neurol. 31, 672-675.
27. Grosjean, H., Motorin, Y. & Morin, A. (1998) in Modification and Editing of RNA, eds. Grosjean, H. & Benne, R. (Am. Soc. Microbiol., Washington, DC), pp. 21-46.
28. Maden, B. E., Corbett, M. E., Heeney, P. A., Pugh, K. & Ajuh, P. M. (1995) Biochimie 77, 22-29.
29. Jacobs, H. T. (2003) Hum. Mol. Genet. 12, R293-R301.
30. Florentz, C., Sohm, B., Tryoen-Toth, P., Putz, J. & Sissler, M. (2003) Cell Mol. Life Sci. 60, 1356-1375.
31. Goto, Y., Horai, S., Matsuoka, T., Koga, Y., Nihei, K., Kobayashi, M. & Nonaka, I. (1992) Neurology 42, 545-550.
32. Koga, Y., Nonaka, I., Kobayashi, M., Tojyo, M. & Nihei, K. (1988) Ann. Neurol. 24, 749-756.
33. Moras, D., Comarmond, M. B., Fischer, J., Weiss, R., Thierry, J. C., Ebel, J. P. & Giege, R. (1980) Nature 288, 669-674.
34. Goddard, J. P. (1977) Prog. Biophys. Mol. Biol. 32, 233-308.
35. Rich, A. & RajBhandary, U. L. (1976) Annu. Rev. Biochem. 45, 805-860.
36. Wittenhagen, L. M., Roy, M. D. & Kelley, S. O. (2003) Nucleic Acids Res. 31, 596-601.