Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafness (original) (raw)
References
Shoffner, J.M. & Wallace, D.C. Oxidative phosphorylation diseases. Disorders of two genomes. Adv. hum. Genet.19, 267–330 (1990). ArticleCAS Google Scholar
Ballinger, S.W. et al. Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion. Nature Genet.1, 11–15 (1992). ArticleCAS Google Scholar
van den Ouweland, J.M.W. et al. Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nature Genet.1, 368–371 (1992). ArticleCAS Google Scholar
Reardon, W. et al. Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA. Lancet340, 1376–1379 (1992). ArticleCAS Google Scholar
Higashi, K. Unique inheritance of streptomycin-induced deafness. Clin. Genet.35, 433–436 (1989). ArticleCAS Google Scholar
Hu, D.-N. et al. Genetic aspects of antibiotic induced deafness: mitochondrial inheritance. J. med. Genet.28, 79–83 (1991). ArticleCAS Google Scholar
Jaber, L. et al. Sensorineural deafness inherited as a tissue-specific mitochondrial disorder. J. med. Genet.29, 86–90 (1992). ArticleCAS Google Scholar
Sande, M.A. & Mandell, G.L. Antimicrobial agents, in: Goodman and Gilman's The Pharmacological Basis of Therapeutics, 8th edition. (eds AG Gilman, et al.) 1098–1116 (Pergamon Press, Elmsford, New York, 1990). Google Scholar
Hornig, H., Woolley, P. & Luhrmann, R. Decoding at the ribosomal A site: antibiotics, misreading and energy of aminoacyl-tRNA binding. Biochimie69, 803–813 (1987). ArticleCAS Google Scholar
Moazed, D. & Noller, H.F. Interaction of antibiotics with functional sites in 16S ribosomal RNA. Nature327, 389–394 (1987). ArticleCAS Google Scholar
Gravel, M., Melancon, P. & Brakier-Gingras, L. Cross-linking of streptomycin to the 16S ribosomal RNA of Escherichia coli. Biochemistry26, 6227–6232 (1987). ArticleCAS Google Scholar
Li, M., Tzagaloff, A., Underbrink-Lyon, K. & Martin, N.C. Identification of the paromomycin-resistance mutation in the 15S rRNA gene of yeast mitochondria. J. biol. Chem.257, 5921–5928 (1982). CASPubMed Google Scholar
Spangler, E.A. & Blackburn, E.H. The nucleotide sequence of the 17S ribosomal RNA gene of Tetrahymena thermophila and the identification of point mutations resulting in resistance to the antibiotics paromomycin and hygromycin. J. biol. Chem.260, 6334–6340 (1985). CASPubMed Google Scholar
Gauthier, A., Turmel, M. & Lemieux, C. Mapping of chloroplast mutations conferring resistance to antibiotics in Chlamydomonas: evidence for a novel site of streptomycin resistance in the small subunit rRNA. Molec. Genet.214, 192–197 (1988). ArticleCAS Google Scholar
Melancon, P., Lemieux, C. & Brakier-Gingras, L. A mutation in the 530 loop of Escherichia coli 16S ribosomal RNA causes resistance to streptomycin. Nucl. Acids Res.16, 9631–9639 (1988). ArticleCAS Google Scholar
Bu, X., Shohat, M., Jaber, L. & Rotter, J.I. A form of sensorineural deafness is determined by a mitochondrial and an autosomal locus: evidence from pedigree segregation analysis. Genet. Epidem. (in the press).
Bu, X., Yang, H.-Y., Shohat, M. & Rotter, J.I. Two-locus mitochondrial and nuclear gene models for mitochondrial disorders. Genet. Epidem.9, 27–44 (1993). Article Google Scholar
Prezant, T.R., Shohat, M., Jaber, L., Pressman, S. & Fischel-Ghodsian, N. Biochemical characterization of a pedigree with mitochondrially inherited deafness. Am. J. med. Genet.44, 465–472 (1992). ArticleCAS Google Scholar
Anderson, S. et al. Sequence and organization of the mitochondrial genome. Nature290, 457–465 (1981). ArticleCAS Google Scholar
Marzuki, S. et al. Normal variants of human mitochondrial DNA and translation products: the building of a reference data base. Hum. Genet.88, 139–145 (1991). ArticleCAS Google Scholar
Conner, B.J. et al. Detection of sickle cell βs-globin allele by hybridization with synthetic oligonucleotides. Proc. natn. Acad. Sci. U.S.A.80, 278–282 (1983). ArticleCAS Google Scholar
Saiki, R.K., Bugawan, T.L., Horn, G.T., Mullis, K.B. & Erlich, H.A. Analysis of enzymatically amplified β-globin and HLA-DQαDNA with allelic-specific oligonucleotide probes. Nature324, 163–166 (1986). ArticleCAS Google Scholar
DiLella, A.G. & Woo, S.L.C. Hybridization of genomic DNA to oligonucleotide probes in the presence of tetramethylammonium chloride. Meth. Enzymol.152, 447–451 (1987). ArticleCAS Google Scholar
Orita, M., Suzuki, Y., Sekiya, T. & Hayashi, K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics5, 874–879 (1989). ArticleCAS Google Scholar
White, J., Carvalho, M., Derse, D., O'Brien, S. & Dean, M. Detecting single base substitutions as heteroduplex polymorphisms. Genomics12, 301–306 (1992). ArticleCAS Google Scholar
Saiki, R.K. et al. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science239, 487–491 (1988). ArticleCAS Google Scholar
Prezant, T.R. & Fischel-Ghodsian, N. Trapped-oligonucleotide nucleotide incorporation (TONI) assay, a simple method for screening point mutations. Hum. Mut.1, 159–164 (1992). ArticleCAS Google Scholar
Neefs, J.-M., Van de Peer, Y., De Rijk, P., Goris, A. & De Wachter, R. Compilation of small ribosomal subunit RNA sequences. Nucl. Acids Res.19 (suppl.), 1987–2018 (1991). ArticleCAS Google Scholar
Gutell, R.R. & Fox, G.E. A compilation of large subunit RNA sequences presented in a structural format. Nucl. Acids Res.16 (suppl.), r175–r269 (1988). ArticleCAS Google Scholar
Bibb, M.J., Van Etten, R.A., Wright, C.T., Walberg, M.W. & Clayton, D.A. Sequence and gene organization of mouse mitochondrial DNA. Cell26, 167–180 (1981). ArticleCAS Google Scholar
Roe, B.A., Ma, D.-P., Wilson, R.K. & Wong, J.F.-H The complete nucleotide sequence of the Xenopus laevis mitochondrial genome. J. biol. Chem.260, 9759–9774 (1985). CASPubMed Google Scholar
Gadaleta, G. et al. The complete nucleotide sequence of the Rattus norvegicus mitochondrial genome: cryptic signals revealed by comparative analysis between vertebrates. J. molec. Evol.28, 497–516 (1989). ArticleCAS Google Scholar
Anderson, S. et al. Complete sequence of bovine mitochondrial DNA: conserved features of the mammalian mitochondrial genome. J. molec. Biol.156, 683–717 (1982). ArticleCAS Google Scholar
Howell, N., McCullough, D.A., Kubacka, I., Halvorson, S. & Mackey, D. The sequence of human mtDNA: the question of errors versus polymorphisms. Am. J. hum. Genet.50, 1333–1337 (1992). CASPubMedPubMed Central Google Scholar
Brown, W.M. Polymorphism in mitochondrial DNA of humans as revealed by restriction endonuclease analysis. Proc. natn. Acad. Sci. U.S.A.77, 3605–3609 (1980). ArticleCAS Google Scholar
Noller, H.F. Structure of ribosomal RNA. Ann. Rev. Biochem.53, 119–162 (1984). ArticleCAS Google Scholar
Brimacombe, R. The emerging three-dimensional structure and function of 16S ribosomal RNA. Biochemistry27, 4207–4213 (1988). ArticleCAS Google Scholar
Montandon, P.E., Wagner, R. & Stutz, E. E. coli ribosomes with a C912 to U base change in the 16S rRNA are streptomycin resistant. EMBO J.5, 3705–3708 (1986). ArticleCAS Google Scholar
Etzold, T., Fritz, C.C., Schell, J. & Schreier, P.H. A point mutation in the chloroplast 16S rRNA gene of a streptomycin-resistant Nicotiana tabacum. FEBS Lett.219, 343–346 (1987). ArticleCAS Google Scholar
Vilkki, J., Ott, J., Savontaus, M.-L., Aula, P. & Nikoskelainen, E.K. Optic atrophy in Leber's hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DX27. Am. J. hum. Genet.48, 486–491 (1991). CASPubMedPubMed Central Google Scholar
Bu, X. & Rotter, J.I. X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation. Proc. natn. Acad. Sci. U.S.A.88, 8198–8202 (1991). ArticleCAS Google Scholar
Wallace, D.C. et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science242, 1427–1430 (1988). ArticleCAS Google Scholar
Howell, N. et al. Leber hereditary optic neuropathy: identification of the same mitochondrial ND 1 mutation in six pedigrees. Am. J. hum. Genet.49, 939–950 (1991). CASPubMedPubMed Central Google Scholar
Howell, N., Kubacka, I., Xu, M. & McCullough, D.A. Leber hereditary optic neuropathy: involvement of the mitochondrial ND 1 gene and evidence for an intragenic suppressor mutation. Am. J. hum. Genet.48, 935–942 (1991). CASPubMedPubMed Central Google Scholar
Huoponen, K., Vilkki, J., Aula, P., Nikoskelainen, E.K. & Savontaus, M.-L. A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. Am. J. hum. Genet.48, 1147–1153 (1991). CASPubMedPubMed Central Google Scholar
Brown, M.D. et al. Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. Genetics130, 163–173 (1992). CASPubMedPubMed Central Google Scholar
Johns, D.R. & Berman, J. Alternative, simultaneous Complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. Biochem. biophys. Res. Commun.174, 1324–1330 (1991). ArticleCAS Google Scholar
Brown, M.D. et al. A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I. Am. J. hum. Genet.51, 378–385 (1992). CASPubMedPubMed Central Google Scholar