mtDNA mutation C1494T, haplogroup A, and hearing loss in Chinese

Biochemical and Biophysical Research Communications

Volumn 348, Issue 2, 2006, Pages 712-715

  Wang, Cheng Ye ^a,b,c   Kong, Qing Peng ^a,b   Yao, Yong Gang ^a   Zhang, Ya Ping ^a,b  

^a KUNMING INSTITUTE OF ZOOLOGY   (China)

^b YUNNAN UNIVERSITY   (China)

^c UNIVERSITY OF CHINESE ACADEMY OF SCIENCES   (China)

Author keywords

Aminoglycoside induced and nonsyndromic hearing loss; C1494T; Chinese; Haplogroup A; mtDNA; Phylogeny

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; CHINA; CHINESE; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HEARING LOSS; HUMAN; MAJOR CLINICAL STUDY; PENETRANCE; PHYLOGENY; PRIORITY JOURNAL;

AMINOGLYCOSIDES; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; DNA, MITOCHONDRIAL; HEARING LOSS; HUMANS; PHYLOGENY; POINT MUTATION; RNA, RIBOSOMAL;

EID: 33746899305     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2006.07.119     Document Type: Article

References (25)

1. 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., et al. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat. Genet. 4 (1993) 289-294
2. Fischel-Ghodsian N., Kopke R.D., and Ge X. Mitochondrial dysfunction in hearing loss. Mitochondrion 4 (2004) 675-694
3. Fischel-Ghodsian N. Genetic factors in aminoglycoside toxicity. Pharmacogenomics 6 (2005) 27-36
4. Zhao H., Young W.-Y., Yan Q., Li R., Cao J., Wang Q., Li X., Peters J.L., Han D., and Guan M.-X. Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss. Nucleic Acids Res. 33 (2005) 1132-1139
5. Zhao H., Li R., Wang Q., Yan Q., Deng J.H., Han D., Bai Y., Young W.-Y., and Guan M.-X. 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 (2004) 139-152
6. Wang Q., Li Q.Z., Han D., Zhao Y., Zhao L., Qian Y., Yuan H., Li R., Zhai S., Young W.-Y., and Guan M.-X. Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation. Biochem. Biophys. Res. Commun. 340 (2006) 583-588
7. Kong Q.-P., Yao Y.-G., Sun C., Bandelt H.-J., Zhu C.-L., and Zhang Y.-P. Phylogeny of east Asian mitochondrial DNA lineages inferred from complete sequences. Am. J. Hum. Genet. 73 (2003) 671-676
8. Bandelt H.-J., Achilli A., Kong Q.-P., Salas A., Lutz-Bonengel S., Sun C., Zhang Y.-P., Torroni A., and Yao Y.-G. Low "penetrance" of phylogenetic knowledge in mitochondrial disease studies. Biochem. Biophys. Res. Commun. 333 (2005) 122-130
9. Yao Y.-G., Salas A., Bravi C.M., and Bandelt H.-J. A reappraisal of complete mtDNA variation in East Asian families with hearing impairment. Hum. Genet. 119 (2006) 505-515
10. Kong Q.-P., Bandelt H.-J., Sun C., Yao Y.-G., Salas A., Achilli A., Wang C.-Y., Zhong L., Zhu C.-L., Wu S.-F., Torroni A., and Zhang Y.-P. Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations. Hum. Mol. Genet. 15 (2006) 2076-2086
11. Yao Y.-G., Macauley V., Kivisild T., Zhang Y.-P., and Bandelt H.-J. To trust or not to trust an idiosyncratic mitochondrial data set. Am. J. Hum. Genet. 72 (2003) 1341-1346
12. Salas A., Yao Y.-G., Macaulay V., Vega A., Carracedo A., and Bandelt H.-J. A critical reassessment of the role of mitochondria in tumorigenesis. PLoS Med. 2 (2005) e296
13. Yao Y.-G., Kong Q.-P., Wang C.-Y., Zhu C.-L., and Zhang Y.-P. Different matrilineal contributions to genetic structure of ethnic groups in the Silk Road region in China. Mol. Biol. Evol. 21 (2004) 2265-2280
14. Yao Y.-G., Nie L., Harpending H., Fu Y.-X., Yuan Z.-G., and Zhang Y.-P. Genetic relationship of Chinese ethnic populations revealed by mtDNA sequence diversity. Am. J. Phys. Anthropol. 118 (2002) 63-76
15. Yao Y.-G., Kong Q.-P., Bandelt H.-J., Kivisild T., and Zhang Y.-P. Phylogeographic differentiation of mitochondrial DNA in Han Chinese. Am. J. Hum. Genet. 70 (2002) 635-651
16. Yao Y.-G., and Zhang Y.-P. Phylogeographic analysis of mtDNA variation in four ethnic populations from Yunnan Province: new data and a reappraisal. J. Hum. Genet. 47 (2002) 311-318
17. Kong Q.-P., Yao Y.-G., Liu M., Shen S.-P., Chen C., Zhu C.-L., Palanichamy M.G., and Zhang Y.-P. Mitochondrial DNA sequence polymorphisms of five ethnic populations from northern China. Hum. Genet. 113 (2003) 391-405
18. 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
19. Brown M.D., Sun F., and Wallace D.C. Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage. Am. J. Hum. Genet. 60 (1997) 381-387
20. Carelli V., Achilli A., Valentino M.L., Rengo C., Semino O., Pala M., Olivieri A., Mattiazzi M., Pallotti F., Carrara F., Zeviani M., Leuzzi V., Carducci C., Valle G., Simionati B., Mendieta L., Salomao S., Belfort Jr. R., Sadun A.A., and Torroni A. Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees. Am. J. Hum. Genet. 78 (2006) 564-574
21. Houshmand M., Sharifpanah F., Tabasi A., Sanati M.H., Vakilian M., Lavasani S.H., and Joughehdoust S. Leber's hereditary optic neuropathy: the spectrum of mitochondrial DNA mutations in Iranian patients. Ann. N.Y. Acad. Sci. 1011 (2004) 345-349
22. Yao Y.-G., Kong Q.-P., and Zhang Y.-P. Mitochondrial DNA 5178A polymorphism and longevity. Hum. Genet. 111 (2002) 462-463
23. Kong Q.-P., Yao Y.-G., Sun C., Zhu C.-L., Zhong L., Wang C.-Y., Cai W.-W., Xu X.-M., Xu A.-L., and Zhang Y.-P. Phylogeographic analysis of mitochondrial DNA haplogroup F2 in China reveals T12338C in the initiation codon of the ND5 gene not to be pathogenic. J. Hum. Genet. 49 (2004) 414-423
24. Bandelt H.-J., Yao Y.-G., and Kivisild T. Mitochondrial genes and schizophrenia. Schizophr. Res. 72 (2005) 267-269
25. 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