Automatic assignment of GO terms using logical inference, based on on inter-ontology links
Automatic Gene Ontology annotation of non-coding RNA sequences through association of Rfam records with GO terms
Codon-specific translational defect caused by a wobble modification deficiency in mutant tRNA from a human mitochondrial disease.
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Wild-type mt tRNA-Leu(UUR) decodes both UUA and UUG codons in an in vitro mitochondrial translation system and binds both codons at the ribosomal A site.
"the WT mt tRNA Leu(UUR) was efficient in decoding both the UUA and UUG codons and showed no activity with the UUC noncognate codon."
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Removing the wobble taurine modification alone gives a UUG-specific decoding defect.
"This "operated" mt tRNA(Leu(UUR)) without the taurine modification showed severely reduced UUG translation but no decrease in UUA translation."
Modification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
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MELAS 3243 and 3271 mutant tRNAs are less stable and lack the wobble uridine modification, but are still accurately charged with leucine.
"accurate aminoacylation with leucine without any misacylation"
The pathogenic A3243G mutation in human mitochondrial tRNALeu(UUR) decreases the efficiency of aminoacylation.
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tRNA-Leu(UUR) is charged by human mitochondrial leucyl-tRNA synthetase; the native A3243G tRNA is aminoacylated about 25-fold less efficiently.
"Native A3243G mutant tRNA(Leu(UUR)) was 25-fold less efficiently aminoacylated in vitro, compared to native wild-type tRNA(Leu(UUR))."
Wobble modification deficiency in mutant tRNAs in patients with mitochondrial diseases.
Human mitochondrial diseases associated with tRNA wobble modification deficiency.
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Review summarising the codon-biased translation defect of unmodified MELAS tRNA-Leu(UUR).
"the translational activity of MELAS mt tRNA(Leu(UUR)) lacking wobble modification is more depressed in decoding of UUG codon than UUA codon"
A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.
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Identification of m.3243A>G in tRNA-Leu(UUR) as the MELAS mutation.
"Here we report an A-to-G transition mutation at nucleotide pair 3,243 in the dihydrouridine loop of mitochondrial tRNA(Leu)(UUR) that is specific to patients with MELAS."