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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
19
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pubmed:dateCreated |
2000-9-29
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pubmed:databankReference |
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pubmed:abstractText |
Point mutations in mitochondrial tRNA genes are responsible for individual subgroups of mitochondrial encephalomyopathies. We have recently reported that point mutations in the tRNA(Leu)(UUR) and tRNA(Lys) genes cause a defect in the normal modification at the first nucleotide of the anticodon. As part of a systematic analysis of pathogenic mutant mitochondrial tRNAs, we purified tRNA(Ile) with a point mutation at nucleotide 4269 to determine its nucleotide sequence, including modified nucleotides. We found that, instead of causing a defect in the post-transcriptional modification, a pathogenic point mutation in the mitochondrial tRNA(Ile) reduced the stability of the mutant tRNA molecule, resulting in a low steady-state level of aminoacyl-tRNA. The reduced stability was confirmed by examining the life-span of the mutant tRNA(Ile) both in vitro and in vivo, as well as by monitoring its melting profile. Our finding indicates that the mutant tRNA(Ile) itself is intrinsically unstable.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/11000270-10514449,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11000270-10660592,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11000270-10675533,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11000270-1632786,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11000270-1720544,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11000270-1761566,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11000270-2310389,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11000270-3277187,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11000270-3431467,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11000270-6160466,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11000270-6987208,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11000270-7219534,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11000270-7510390,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11000270-7518448,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11000270-7647790,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11000270-8114089,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11000270-8280119,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11000270-8965699,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11000270-9239539,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11000270-9341162,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11000270-9399820,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11000270-9466989,
http://linkedlifedata.com/resource/pubmed/commentcorrection/11000270-9770297
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
1362-4962
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:day |
1
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pubmed:volume |
28
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
3779-84
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:11000270-Acylation,
pubmed-meshheading:11000270-Anticodon,
pubmed-meshheading:11000270-Base Sequence,
pubmed-meshheading:11000270-Cell Extracts,
pubmed-meshheading:11000270-Ethidium,
pubmed-meshheading:11000270-Half-Life,
pubmed-meshheading:11000270-HeLa Cells,
pubmed-meshheading:11000270-Humans,
pubmed-meshheading:11000270-Mitochondria,
pubmed-meshheading:11000270-Mitochondrial Encephalomyopathies,
pubmed-meshheading:11000270-Molecular Sequence Data,
pubmed-meshheading:11000270-Nucleic Acid Denaturation,
pubmed-meshheading:11000270-Point Mutation,
pubmed-meshheading:11000270-RNA, Transfer, Ile,
pubmed-meshheading:11000270-RNA Processing, Post-Transcriptional,
pubmed-meshheading:11000270-RNA Stability,
pubmed-meshheading:11000270-Sequence Analysis, RNA,
pubmed-meshheading:11000270-Temperature,
pubmed-meshheading:11000270-Transcription, Genetic
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pubmed:year |
2000
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pubmed:articleTitle |
A pathogenic point mutation reduces stability of mitochondrial mutant tRNA(Ile).
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pubmed:affiliation |
Department of Chemistry and Biotechnology, Graduate School of Engineering, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8656, Japan.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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