Mitochondrial deafness alleles confer misreading of the genetic code

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

Volumn 105, Issue 9, 2008, Pages 3244-3249

  Hobbie, Sven N ^a   Bruell, Christian M ^a   Akshay, Subramanian ^a   Kalapala, Sarath K ^a   Shcherbakov, Dmitry ^a   Böttger, Erik C ^a  

^a UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

Decoding; Disease; Mitochondria; Mutant rRNA; Ribosomes

Indexed keywords

AMINOGLYCOSIDE ANTIBIOTIC AGENT; RIBOSOME RNA; AMINOGLYCOSIDE; BACTERIAL RNA;

ALLELE; ANTIBIOTIC SENSITIVITY; ARTICLE; CONTROLLED STUDY; GENE MUTATION; GENETIC CODE; MITOCHONDRION; NONHUMAN; PRIORITY JOURNAL; RIBOSOME; RNA TRANSLATION; CHIMERA; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENETICS; HEARING IMPAIRMENT; MITOCHONDRIAL GENE; PERCEPTION DEAFNESS; PHYSIOLOGY; POINT MUTATION; PROTEIN SYNTHESIS;

BACTERIA (MICROORGANISMS);

ALLELES; AMINOGLYCOSIDES; CHIMERA; DEAFNESS; GENES, MITOCHONDRIAL; GENETIC CODE; HEARING LOSS, SENSORINEURAL; MITOCHONDRIAL DISEASES; POINT MUTATION; PROTEIN BIOSYNTHESIS; RIBOSOMES; RNA, BACTERIAL; RNA, RIBOSOMAL;

EID: 42149087058     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0707265105     Document Type: Article

References (36)

1. Schapira AH (2006) Mitochondrial disease. Lancet 368:70-82.
2. Shadel GS (2004) Coupling the mitochondrial transcription machinery to human disease. Trends Genet 20:513-519.
3. Fischel-Ghodsian N (1999) Mitochondrial deafness mutations reviewed. Hum Mutat 13:261-270.
4. Prezant TR, et al. (1993) Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and nonsyndromic deafness. Nat Genet 4:289-294.
5. Zhao H, et al. (2004) Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family. Am J Hum Genet 74:139-152.
6. Ogle JM, Ramakrishnan V (2005) Structural insights into translational fidelity. Annu Rev Biochem 74:129-177.
7. Begg EJ, Barclay ML (1995) Aminoglycosides: 50 years on. Br J Clin Pharmacol 39:597-603.
8. Böttger EC, Springer B, Prammananan T, Kidan Y, Sander P (2001) Structural basis for selectivity and toxicity of ribosomal antibiotics. EMBO Rep 2:318-323.
9. Guan MX, Fischel-Ghodsian N, Attardi G (2001) Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation. Hum Mol Genet 10:573-580.
10. Zhao H, et al. (2005) Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and nonsyndromic hearing loss. Nucleic Acids Res 33:1132-1139.
11. Bravo O, Ballana E, Estivill X (2006) Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene. Biochem Biophys Res Commun 344:511-516.
12. Johnson KR, Zheng QY, Bykhovskaya Y, Spirina O, Fischel-Ghodsian N (2001) A nuclear mitochondrial DNA interaction affecting hearing impairment in mice. Nat Genet 27:191-194.
13. Li X, Li R, Lin X, Guan MX (2002) Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutation. J Biol Chem 277:27256-27264.
14. Colby G, Wu M, Tzagoloff A (1998) MTO1 codes for a mitochondrial protein required for respiration in paromomycin-resistant mutants of Saccharomyces cerevisiae. J Biol Chem 273:27945-27952.
15. Gutell RR (1994) Collection of small subunit (16S- and 16S-like) ribosomal RNA structures. Nucleic Acids Res 22:3502-3507.
16. Hobbie SN, et al. (2006) A genetic model to investigate structural drug-target interactions at the ribosomal decoding site. Biochimie 88:1033-1043.
17. Jelenc PC, Kurland CG (1979) Nucleoside triphosphate regeneration decreases the frequency of translation errors. Proc Natl Acad Sci USA 76:3174-3178.
18. Agris PF (2004) Decoding the genome: A modified view. Nucleic Acids Res 32:223-238.
19. Andersson DI, Bohman K, Isaksson LA, Kurland CG (1982) Translation rates and mis-reading characteristics of rpsD mutants in Escherichia coli. Mol Gen Genet 187:467-472.
20. Pape T, Wintermeyer W, Rodnina MV (2000) Conformational switch in the decoding region of 16S rRNA during aminoacyl-tRNA selection on the ribosome. Nat Struct Biol 7:104-107.
21. Ogle JM, et al. (2001) Recognition of cognate transfer RNA by the 30S ribosomal subunit. Science 292:897-902.
22. Ogle JM, Murphy FV, Tarry MJ, Ramakrishnan V (2002) Selection of tRNA by the ribosome requires a transition from an open to a closed form. Cell 111:721-732.
23. Kondo J, Urzhumtsev A, Westhof E (2006) Two conformational states in the crystal structure of the Homosapiens cytoplasmic ribosomal decoding A site. Nucleic Acids Res 34:676-685.
24. Schluenzen F, et al. (2000) Structure of functionally activated small ribosomal subunit at 3.3-Å resolution. Cell 102:615-623.
25. Wimberly BT, et al. (2000) Structure of the 30S ribosomal subunit. Nature 407:327-339.
26. Pape T, Wintermeyer W, Rodnina M (1999) Induced fit in initial selection and proofreading of aminoacyl-tRNA on the ribosome. EMBO J 18:3800-3807.
27. Kurland CG, Hughes D, Ehrenberg M (1996) in Escherichia coli and Salomonella typhimurium: Cellular and Molecular Biology, eds Neidhardt FC, et al. (Am Soc Microbiol, Washington, DC), Vol 1, pp. 979-1004.
28. Bacher JM, de Crecy-Lagard V, Schimmel PR (2005) Inhibited cell growth and protein functional changes from an editing-defective tRNA synthetase. Proc Natl Acad Sci USA 102:1697-1701.
29. Schroder M, Kaufman RJ (2005) The mammalian unfolded protein response. Annu Rev Biochem 74:739-789.
30. Gregersen N, Bross P, Vang S, Christensen JH (2006) Protein misfolding and human disease. Annu Rev Genomics Hum Genet 7:103-124.
31. Guan MX, Fischel-Ghodsian N, Attardi G (2000) A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity. Hum Mol Genet 9:1787-1793.
32. Seidel-Rogol BL, McCulloch V, Shadel GS (2003) Human mitochondrial transcription factor B1 methylates ribosomal RNA at a conserved stem-loop. Nat Genet 33:23-24.
33. Bykhovskaya Y, et al. (2004) Phenotype of nonsyndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3. Mol Genet Metab 83:199-206.
34. Guan MX, et al. (2006) Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations. Am J Hum Genet 79:291-302.
35. Hipkiss AR (2003) Errors, mitochondrial dysfunction and ageing. Biogerontology 4:397-400.
36. Hobbie SN, et al. (2007) Engineering the rRNA decoding site of eukaryotic cytosolic ribosomes in bacteria. Nucleic Acids Res 35:6086-6093.