Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (36)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Reid, F. M.
Right arrow Articles by Jacobs, H. T.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Reid, F. M.
Right arrow Articles by Jacobs, H. T.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Molecular Genetics, Vol 6, 443-449, Copyright © 1997 by Oxford University Press

ARTICLES

Molecular phenotype of a human lymphoblastoid cell-line homoplasmic for the np 7445 deafness-associated mitochondrial mutation

FM Reid, A Rovio, IJ Holt and HT Jacobs
Division of Molecular Genetics, University of Glasgow, UK.

We have studied mitochondrial gene expression and metabolic function in a human lymphoblastoid cell-line homoplasmic for the np 7445, deafness- associated mitochondrial DNA mutation. The mutation maps to the 3' termini of the oppositely oriented genes encoding cytochrome oxidase subunit I (COI) and tRNA-ser(UCN). In comparison with control lymphoblastoid cells, we detected a marked depletion (> 60%) of tRNA- ser(UCN). There was, however, no significant impairment of respiratory function, no alteration to the structure or abundance of COI mRNA or its precursors, and no detectable abnormality of mitochondrial protein synthesis. We also found considerable tissue-variation in the abundance of tRNA-ser(UCN). We propose that the tissue-specific phenotype associated with this mutation results from an inherent deficiency in the processing of the mutant pre-tRNA, that becomes limiting for protein synthesis only in a restricted set of cells of the auditory system in which the tRNA is, for other reasons, already at a critically low level.
Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 J. Biol. Chem.Home page
H. Yan, N. Zareen, and L. Levinger
Naturally Occurring Mutations in Human Mitochondrial Pre-tRNASer(UCN) Can Affect the Transfer Ribonuclease Z Cleavage Site, Processing Kinetics, and Substrate Secondary Structure
J. Biol. Chem., February 17, 2006; 281(7): 3926 - 3935.
[Abstract] [Full Text] [PDF]

Home page
 Nucleic Acids ResHome page
L. Levinger, M. Morl, and C. Florentz
Mitochondrial tRNA 3' end metabolism and human disease
Nucleic Acids Res., October 11, 2004; 32(18): 5430 - 5441.
[Abstract] [Full Text] [PDF]

Home page
 Nucleic Acids ResHome page
X. Li, N. Fischel-Ghodsian, F. Schwartz, Q. Yan, R. A. Friedman, and M.-X. Guan
Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness
Nucleic Acids Res., February 11, 2004; 32(3): 867 - 877.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
H. T. Jacobs
Disorders of mitochondrial protein synthesis
Hum. Mol. Genet., October 15, 2003; 12(90002): R293 - 301.
[Abstract] [Full Text] [PDF]

Home page
 Nucleic Acids ResHome page
L. Levinger, R. Giege, and C. Florentz
Pathology-related substitutions in human mitochondrial tRNAIle reduce precursor 3' end processing efficiency in vitro
Nucleic Acids Res., April 1, 2003; 31(7): 1904 - 1912.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
M. Toompuu, T. Yasukawa, T. Suzuki, T. Hakkinen, J. N. Spelbrink, K. Watanabe, and H. T. Jacobs
The 7472insC Mitochondrial DNA Mutation Impairs the Synthesis and Extent of Aminoacylation of tRNASer(UCN) but Not Its Structure or Rate of Turnover
J. Biol. Chem., June 14, 2002; 277(25): 22240 - 22250.
[Abstract] [Full Text] [PDF]

Home page
 Nucleic Acids ResHome page
L. Levinger, O. Jacobs, and M. James
In vitro 3'-end endonucleolytic processing defect in a human mitochondrial tRNASer(UCN) precursor with the U7445C substitution, which causes non-syndromic deafness
Nucleic Acids Res., November 1, 2001; 29(21): 4334 - 4340.
[Abstract] [Full Text] [PDF]

Home page
 GeneticsHome page
S. K. Lehtinen, N. Hance, A. El Meziane, M. K. Juhola, K. M. I. Juhola, R. Karhu, J. N. Spelbrink, I. J. Holt, and H. T. Jacobs
Genotypic Stability, Segregation and Selection in Heteroplasmic Human Cell Lines Containing np 3243 Mutant mtDNA
Genetics, January 1, 2000; 154(1): 363 - 380.
[Abstract] [Full Text]

Home page
 NeurologyHome page
T. Yamasoba, K. Tsukuda, Y. Oka, T. Kobayashi, and K. Kaga
Cochlear histopathology associated with mitochondrial transfer RNALeu(UUR) gene mutation
Neurology, May 1, 1999; 52(8): 1705 - 1705.
[Abstract] [Full Text]

Home page
 Mol. Cell. Biol.Home page
M.-X. Guan, J. A. Enriquez, N. Fischel-Ghodsian, R. S. Puranam, C. P. Lin, M. A. Maw, and G. Attardi
The Deafness-Associated Mitochondrial DNA Mutation at Position 7445, Which Affects tRNASer(UCN) Precursor Processing, Has Long-Range Effects on NADH Dehydrogenase Subunit ND6 Gene Expression
Mol. Cell. Biol., October 1, 1998; 18(10): 5868 - 5879.
[Abstract] [Full Text]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.