Mitochondrial tRNAGlu A14693G variant may modulate the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in a Han Chinese family

Journal of Genetics and Genomics

Volumn 36, Issue 4, 2009, Pages 241-250

  Ding, Yu ^a   Li, Yongyan ^a   You, Junyan ^a   Yang, Li ^b   Chen, Bobei ^a   Lu, Jianxin ^a   Guan, Min Xin ^a,b,c  

^a WENZHOU MEDICAL UNIVERSITY   (China)

^b CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^c UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

Author keywords

12S rRNA; Chinese family; hearing loss; mitochondrial DNA; modifier; mutation; tRNA

Indexed keywords

MITOCHONDRIAL PROTEIN; NUCLEOTIDE; TRANSFER RNA;

ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE MUTATION; GENETIC VARIABILITY; GENOME; HEARING IMPAIRMENT; HUMAN; MALE; PHENOTYPE; PROTEIN STRUCTURE; PROTEIN SYNTHESIS;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CONNEXINS; DEAFNESS; FEMALE; GENETIC VARIATION; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; NUCLEIC ACID CONFORMATION; PEDIGREE; PHENOTYPE; POINT MUTATION; RNA, RIBOSOMAL; RNA, TRANSFER, GLY; TRNA METHYLTRANSFERASES;

EID: 64349100835     PISSN: 16738527     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1673-8527(08)60111-3     Document Type: Article

References (41)

1. Abe S., Kelley P.M., Kimberling W.J., and Usami S.I. Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A>G mitochondrial mutation. Am. J. Med. Genet. 103 (2001) 334-338
2. Andrews R.M., Kubacka I., Chinnery P.F., Lightowlers R.N., Turnbull D.M., and Howell N. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat. Genet. 23 (1999) 147
3. Bibb M.J., Van Etten R.A., Wright C.T., Walberg M.W., and Clayton D.A. Sequence and gene organization of mouse mitochondrial DNA. Cell 26 (1981) 167-180
4. Björk G.R. Biosynthesis and function of modified nucleosides. In: Söll D., and Raj Bhandary U.L. (Eds). tRNA: Structure, Biosynthesis and Function (1995), ASM Press, Washington, DC
5. Brandon M.C., Lott M.T., Nguyen K.C., Spolim S., Navathe S.B., Baldi P., and Wallace D.C. MITOMAP: A human mitochondrial genome database-2004 update. Nucleic Acids Res. 33 (2005) D611-D613
6. Chen B., Sun D., Yang L., Zhang C., Yang A., Zhu Y., Zhao J., Chen Y., Guan M., Wang X., Li R., Tang X., Wang J., Tao Z., Lu J., and Guan M.X. Mitochondrial ND5 T12338C, tRNACys T5802C, and tRNAThr G15927A variants may have a modifying role in the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese pedigrees. Am. J. Med. Genet. A 146A (2008) 1248-1258
7. del Castillo F.J., Rodriguez-Ballesteros M., Martin Y., Arellano B., Gallo-Teran J., Morales-Angulo C., Ramirez-Camacho R., Cruz Tapia M., Solanellas J., Martinez-Conde A., Villamar M., Moreno-Pelayo M.A., Moreno F., and del Castillo I. Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss. J. Med. Genet. 40 (2003) 632-636
8. Dai P., Liu X., Han D., Qian Y., Huang D., Yuan H., Li W., Yu F., Zhang R., Lin H., He Y., Yu Y., Sun Q., Qin H., Li R., Zhang X., Kang D., Cao J., Young W.Y., and Guan M.X. Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: Implication for early detection and prevention of deafness. Biochem. Biophys. Res. Commun. 340 (2006) 194-199
9. Enríquez J.A., and Attardi G. Analysis of aminoacylation of human mitochondrial tRNAs. Methods Enzymol. 264 (1996) 183-196
10. Estivill X., Govea N., Barcelo E., Badenas C., Romero E., Moral L., Scozzari R., D'Urbano L., Zeviani M., and Torroni A. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides. Am. J. Hum. Genet. 62 (1998) 27-35
11. Fischel-Ghodsian N. Genetic factors in aminoglycoside toxicity. Pharmacogenomics 6 (2005) 27-36
12. Florentz C., Sohm B., Tryoen-Toth P., Putz J., and Sissler M. Human mitochondrial tRNAs in health and disease. Cell Mol. Life Sci. 60 (2003) 1356-1375
13. Gadaleta G., Pepe G., De Candia G., Quagliariello C., Sbisa E., and Saccone C. The complete nucleotide sequence of the Rattus norvegicus mitochondrial genome: Cryptic signals revealed by comparative analysis between vertebrates. J. Mol. Evol. 28 (1989) 497-516
14. Guan M.X. Prevalence of mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity. Volta Rev. 105 (2005) 211-237
15. Guan M.X., Fischel-Ghodsian N., and Attardi G. Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation. Hum. Mol. Genet. 5 (1996) 963-997
16. Ser(UCN) precursor processing, has long-range effects on NADH dehydrogenase ND6 subunit gene expression. Mol. Cell Biol. 18 (1998) 5868-5879
17. Guan M.X., Fischel-Ghodsian N., and Attardi G. A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity. Hum. Mol. Genet. 9 (2000) 1787-1793
18. Guan M.X., Fischel-Ghodsian N., and Attardi G. Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation. Hum. Mol. Genet. 10 (2001) 573-580
19. Guan M.X., Yan Q., Li X., Bykhovskaya Y., Gallo-Teran J., Hajek P., Umeda N., Zhao H., Garrido G., Mengesha E., Suzuki T., del Castillo I., Peters J.L., Li R., Qian Y., Wang X., Ballana E., Shohat M., Lu J., Estivill X., Watanabe K., and Fischel-Ghodsian N. Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deaf ness-associated mitochondrial 12S ribosomal RNA mutations. Am. J. Hum. Genet. 79 (2006) 291-302
20. Ser(UCN) genes in paediatric subjects with nonsyndromic hearing loss. J. Med. Genet. 41 (2004) 615-620
21. Li R., Xing G., Yan M., Cao X., Liu X.Z., Bu X., and Guan M.X. Cosegregation of C-insertion at position 961 with A1555G mutation of mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss. Am. J. Med. Genet. 124A (2004) 113-117
22. Ser(UCN) T7511C mutation associated with nonsyndromic deafness. Nucleic Acids Res. 32 (2004) 867-877
23. Ser(UCN) 7511C mutation in a Japanese family. Biochem. Biophys. Res. Commun. 328 (2005) 32-37
24. Li Z., Li R., Chen J., Liao Z., Zhu Y., Qian Y., Xiong S., Heman-Ackah S., Wu J., Choo D.I., and Guan M.X. Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside induced and non-syndromic hearing loss. Hum. Genet. 117 (2005) 9-15
25. Matthijs G., Claes S., Longo-Bbenza B., and Cassiman J.J. Non-syndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large Zairean pedigree. Eur. J. Hum. Genet. 4 (1996) 46-51
26. Prezant T.R., Agapian J.V., Bohlman M.C., Bu X., Oztas S., Qiu W.Q., Arnos K.S., Cortopassi G.A., Jaber L., Rotter J.I., Shohat M., and Fischel-Ghodsian N. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat. Genet. 4 (1993) 289-294
27. Rieder M.J., Taylor S.L., Tobe V.O., and Nickerson D.A. Automating the identification of DNA variations using quality-based fluorescence re-sequ: Analysis of the human mitochondrial genome. Nucleic Acids Res. 26 (1998) 967-973
28. Roe A., Ma D.P., Wilson R.K., and Wong J.F. The complete nucleotide sequence of the Xenopus laevis mitochondrial genome. J. Biol. Chem. 260 (1985) 9759-9774
29. Sprinzl M., Horn C., Brown M., Ioudovitch A., and Steinberg S. Compilation of tRNA sequences and sequences of tRNA genes. Nucleic Acids Res. 26 (1998) 148-153
30. Sternberg D., Chatzoglou E., Laforet P., Fayet G., Jardel C., Blondy P., Fardeau M., Amselem S., Eymard B., and Lombes A. Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders. Brain 124 (2001) 984-994
31. Tanaka M., Cabrera V.M., González A.M., Larruga J.M., Takeyasu T., Fuku N., Guo L.J., Hirose R., Fujita Y., Kurata M., Shinoda K., Umetsu K., Yamada Y., Oshida Y., Sato Y., Hattori N., Mizuno Y., Arai Y., Hirose N., Ohta S., Ogawa O., Tanaka Y., Kawamori R., Shamoto-Nagai M., Maruyama W., Shimokata H., Suzuki R., and Shimodaira H. Mitochondrial genome variation in eastern Asia and the peopling of Japan. Genome Res. 14 (2004) 1832-1850
32. Tang X., Yang L., Zhu Y., Liao Z., Wang J., Qian Y., Tao Z., Hu L., Wu G., Lan J., Wang X., Ji J., Wu J., Ji Y., Feng J., Chen J., Li Z., Zhang X., Lu J., and Guan M.X. Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation. Gene 293 (2007) 11-19
33. Glu A14693G mutation may influence the phenotypic manifestation of ND1 G3460A mutation in a Chinese family with Leber's hereditary optic neuropathy. Biochem. Biophys. Res. Commun. 357 (2007) 524-530
34. Torroni A., Petrozzi M., D'Urbano L., Sellitto D., Zeviani M., Carrara F., Carducci C., Leuzzi V., Carelli V., Barboni P., De Negri A., and Scozzari R. Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am. J. Hum. Genet. 60 (1997) 1107-1121
35. Glu A14693G. Muscle Nerve 28 (2003) 575-581
36. Usami S.I., Abe S., Kasai M., Shinkawa H., Moeller B., Kenyon J.B., and Kimberling W.J. Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation. Laryngoscope 107 (1997) 483-490
37. Wang X., Lu J., Zhu Y., Yang A., Yang L., Li R., Chen B., Qian Y., Tang X., Wang J., Zhang X., and Guan M.X. Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families. Pharmacogenet. Genomics 18 (2008) 1059-1070
38. Young W.Y., Zhao L., Qian Y., Wang Q., Li N., Greinwald Jr. J.H., and Guan M.X. Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation. Biochem. Biophys. Res. Commun. 328 (2005) 1244-1251
39. Thr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Chinese families with hearing loss. Am. J. Med. Genet. 140 (2006) 2188-2197
40. Ser(UCN) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and non-syndromic hearing loss. Am. J. Med. Genet. 138A (2005) 133-140
41. Zhao L., Wang Q., Qian Y., Li R., Cao J., Hart L.C., Zhai S., Han D., Young W.Y., and Guan M.X. Clinical evaluation and mitochondrial genome sequence analysis of two Chinese families with aminoglycoside-induced and nonsyndromic hearing loss. Biochem. Biophys. Res. Commun. 336 (2005) 967-973