Mitochondrial m.1584A 12S m62A rRNA methylation in families with m.1555A>G associated hearing loss

Human Molecular Genetics

Volumn 24, Issue 4, 2015, Pages 1036-1044

  O'Sullivan, Mary ^a   Rutland, Paul ^a   Lucas, Deirdre ^b   Ashton, Emma ^c   Hendricks, Sebastian ^d   Rahman, Shamima ^a,c   Bitner Glindzicz, Maria ^a,e  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b ROYAL NATIONAL THROAT NOSE AND EAR HOSPITAL   (United Kingdom)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d ROYAL FREE LONDON NHS FOUNDATION TRUST   (United Kingdom)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

6 N,N DIMETHYLADENOSINE; MITOCHONDRIAL RNA; RIBOSOME RNA; RNA 12S; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR 1; UNCLASSIFIED DRUG; RNA, RIBOSOMAL, 12S;

ARTICLE; CONTROLLED STUDY; FEMALE; FIBROBLAST; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; HEARING IMPAIRMENT; HUMAN; HUMAN CELL; LYMPHOBLAST; LYMPHOCYTE; MITOCHONDRION; PRIORITY JOURNAL; RNA METHYLATION; TRANSFORMED CELL; ADOLESCENT; CHEMISTRY; CHILD; CONFORMATION; FAMILY; GENETIC ASSOCIATION STUDY; GENETICS; HEARING LOSS; INFANT; MALE; METABOLISM; METHYLATION; MITOCHONDRIAL GENE; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PRESCHOOL CHILD;

ANIMALIA;

ADOLESCENT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; FAMILY; FEMALE; GENES, MITOCHONDRIAL; GENETIC ASSOCIATION STUDIES; HEARING LOSS; HUMANS; INFANT; MALE; METHYLATION; MUTATION; NUCLEIC ACID CONFORMATION; PEDIGREE; RNA, RIBOSOMAL;

EID: 84922463440     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu518     Document Type: Article

References (35)

1. Bitner-Glindzicz, M., Pembrey, M., Duncan, A., Heron, J., Ring, S.M., Hall, A. and Rahman, S. (2009) Prevalence of mitochondrial 1555A→G mutation in European children. N. Engl. J. Med., 360, 640-642.
2. Vandebona, H., Mitchell, P., Manwaring, N., Griffiths, K., Gopinath, B., Wang, J.J. and Sue, C.M. (2009) Prevalence of mitochondrial 1555A→G mutation in adults of European descent. N. Engl. J. Med., 360, 642-644.
3. Estivill, X., Govea, N., Barceló, E., Badenas, C., Romero, E., Moral, L., Scozzri, R., D'Urbano, L., Zeviani, M. and Torroni, A. (1998) Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. Am. J. Hum. Genet., 62, 27-35.
4. Prezant, T.R., Agapian, J.V., Bohlman, M.C., Bu, X., Oztas, S., Qiu, W.Q., Arnos, K.S., Cortopassi, G.A., Jaber, L. and Rotter, J.I. (1993) Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat. Genet., 4, 289-294.
5. Guan, M.-X., Fischel-Ghodsian, N. and Attardi, G. (1996) Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation. Hum. Mol. Genet., 5, 963-971.
6. Li, X., Li, R., Lin, X. and Guan, M.-X. (2002) Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12S rRNA A1555G mutation. J. Biol. Chem., 277, 27256-27264.
7. Bykhovskaya, Y., Mengesha, E., Wang, D., Yang, H., Estivill, X., Shohat, M. and Fischel-Ghodsian, N. (2004) Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3. Mol. Genet. Metab., 83, 199-206.
8. Guan, M.X., Yan, Q., Li, X., Bykhovskaya, Y., Gallo-Teran, J., Hajek, P., Umeda, N., Zhao, H., Garrido, G., Mengesha, E. 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.
9. Hutchin, T., Haworth, I., Higashi, K., Fischel-Ghodsian, N., Stoneking, M., Saha, N., Arnos, C. and Cortopassi, G. (1993) A molecular basis for human hypersensitivity to aminoglycoside antibiotics. Nucl. Acids Res., 21, 4174-4179.
10. Cortopassi, G. and Hutchin, T. (1994) A molecular and cellular hypothesis for aminoglycoside-induced deafness. Hear. Res., 78, 27-30.
11. Hobbie, S.N., Bruell, C.M., Akshay, S., Kalapala, S.K., Shcherbakov, D. and Böttger, E.C. (2008) Mitochondrial deafness alleles confer misreading of the genetic code. Proc. Natl Acad. Sci. USA, 105, 3244-3249.
12. Seidel-Rogol, B.L., McCulloch, V. and Shadel, G.S. (2003) Human mitochondrial transcription factor B1 methylates ribosomal RNA at a conserved stem-loop. Nat. Genet., 33, 23-24.
13. Cotney, J., McKay, S.E. and Shadel, G.S. (2009) Elucidation of separate, but collaborative functions of the rRNA methyltransferase-related human mitochondrial transcription factors B1 and B2 in mitochondrial biogenesis reveals new insight into maternally inherited deafness. Hum. Mol. Genet., 18, 2670-2682.
14. Shadel, G.S. (2004) A dual-function mitochondrial transcription factor tunes out deafness. Mol. Genet. Metab., 82, 1-3.
15. Hobbie, S.N., Akshay, S., Kalapala, S.K., Bruell, C.M., Shcherbakov, D. and Böttger, E.C. (2008) Genetic analysis of interactions with eukaryotic rRNA identify the mitoribosome as target in aminoglycoside ototoxicity. Proc. Natl Acad. Sci. USA, 105, 20888-20893.
16. McCulloch, V., Seidel-Rogol, B.L. and Shadel, G.S. (2002) A human mitochondrial transcription factor is related to RNA adenine methyltransferases and binds S-adenosylmethionine. Mol. Cell. Biol., 22, 1116-1125.
17. Guja, K.E., Venkataraman, K., Yakubovskaya, E., Shi, H., Mejia, E., Hambardjieva, E., Karzai, A.W. and Garcia-Diaz, M. (2013) Structural basis for S-adenosylmethionine binding and methyltransferase activity by mitochondrial transcription factor B1. Nucl. Acids Res., 41, 7947-7959.
18. Falkenberg, M., Gaspari, M., Rantanen, A., Trifunovic, A., Larsson, N.-G. and Gustafsson, C.M. (2002) Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA. Nat. Genet., 31, 289-294.
19. Metodiev, M.D., Lesko, N., Park, C.B., Cámara, 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.
20. Littlefield, J.W. and Dunn, D.B. (1958) Natural occurrence of thymine and three methylated adenine bases in several ribonucleic acids. Nature, 181, 254-255.
21. Motorin, Y., Muller, S., Behm-Ansmant, I. and Branlant, C. (2007) Identification of modified residues in RNAs by reverse transcription-based methods. Methods Enzymol., 425, 21-53.
22. King, M.P. and Attardi, G. (1989) Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation. Science, 246, 500-503.
23. Raimundo, N., Song, L., Shutt, T.E., McKay, S.E., Cotney, J., Guan, M.-X., Gilliland, T.C., Hohuan, D., Santos-Sacchi, J. and Shadel, G.S. (2012) Mitochondrial stress engages E2F1 apoptotic signaling to cause deafness. Cell, 148, 716-726.
24. Lightowlers, R.N. (2011) Mitochondrial transformation: time for concerted action. EMBO Rep., 12, 480-481.
25. Bykhovskaya, Y., Mengesha, E., Wang, D., Yang, H., Estivill, X., Shohat, M. and Fischel-Ghodsian, N. (2004) Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation. Mol. Genet. Metab., 82, 27-32.
26. Frost, J., Monk, D., Moschidou, D., Guillot, P.V., Stanier, P., Minger, S.L., Fisk, N.M., Moore, H.D. and Moore, G.E. (2011) The effects of culture on genomic imprinting profiles in human embryonic and fetal mesenchymal stem cells. Epigenetics, 6, 52-62.
27. Grafodatskaya, D., Choufani, S., Ferreira, J.C., Butcher, D.T., Lou, Y., Zhao, C., Scherer, S.W. and Weksberg, R. (2010) EBV transformation and cell culturing destabilizesDNAmethylation in human lymphoblastoid cell lines. Genomics, 95, 73-83.
28. Richter, U., Kühn, K., Okada, S., Brennicke, A., Weihe, A. and Börner, T. (2010) A mitochondrial rRNA dimethyladenosine methyltransferase in Arabidopsis. Plant J. Cell Mol. Biol., 61, 558-569.
29. Grosjean, H. (2009) DNA and RNA Modification Enzymes: Structure, Mechanism, Function and Evolution. Landes Bioscience, Austin, Tex.
30. Matt, T., Ng, C.L., Lang, K., Sha, S.-H., Akbergenov, R., Shcherbakov, D., Meyer, M., Duscha, S., Xie, J., Dubbaka, S.R. et al. (2012) Dissociation of antibacterial activity and aminoglycoside ototoxicity in the 4-monosubstituted 2-deoxystreptamine apramycin. Proc. Natl Acad. Sci. USA, 109, 10984-10989.
31. Sha, S.-H., Qiu, J.-H. and Schacht, J. (2006) Aspirin to prevent gentamicin-induced hearing loss. N. Engl. J. Med., 354, 1856-1857.
32. Perez-Fernandez, D., Shcherbakov, D., Matt, T., Leong, N.C., Kudyba, I., Duscha, S., Boukari, H., Patak, R., Dubbaka, S.R., Lang, K. et al. (2014) 4'-O-substitutions determine selectivity of aminoglycoside antibiotics. Nat. Commun., 5, 3112.
33. Fischel-Ghodsian, N. (2003) Mitochondrial Diseases. N. Engl. J. Med., 349, 1293-1294.
34. He, C. (2010) Grand challenge commentary: RNA epigenetics? Nat. Chem. Biol., 6, 863-865.
35. Morris, K.V. and Mattick, J.S. (2014) The rise of regulatory RNA. Nat. Rev. Genet., 15, 423-437.