ArticleRNA (New York, N.Y.)2004
Aminoacylation properties of pathology-related human mitochondrial tRNA(Lys) variants.
Article in RNA (New York, N.Y.), 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 58 citations in OpenAlex.
- Taurine hypomodification underlies mitochondrial tRNATrp-related genetic diseases.Nucleic acids research · 2024Article
- Multifaceted roles of t6A biogenesis in efficiency and fidelity of mitochondrial gene expression.Nucleic acids research · 2024Article
- Molecular basis for human mitochondrial tRNA m3C modification by alternatively spliced METTL8.Nucleic acids research · 2022Article
- Disease-associated mutations in mitochondrial precursor tRNAs affect binding, m1R9 methylation, and tRNA processing by mtRNase P.RNA (New York, N.Y.) · 2021Article
- Molecular basis for t6A modification in human mitochondria.Nucleic acids research · 2020Article
- Interplay between substrate recognition, 5' end tRNA processing and methylation activity of human mitochondrial RNase P.RNA (New York, N.Y.) · 2019Article
- tRNA Metabolism and Neurodevelopmental Disorders.Annual review of genomics and human genetics · 2019Review
- When a common biological role does not imply common disease outcomes: Disparate pathology linked to human mitochondrial aminoacyl-tRNA synthetases.The Journal of biological chemistry · 2019Review
- Chemical and Conformational Diversity of Modified Nucleosides Affects tRNA Structure and Function.Biomolecules · 2017Review
- Mitochondrial transcript maturation and its disorders.Journal of inherited metabolic disease · 2015Review
- Private mitochondrial DNA variants in danish patients with hypertrophic cardiomyopathy.PloS one · 2015Article
- Evidence for the presence of somatic mitochondrial DNA mutations in right atrial appendage tissues of coronary artery disease patients.Molecular genetics and genomics : MGG · 2014Article
- Article
- The concept of RNA-assisted protein folding: the role of tRNA.Theoretical biology & medical modelling · 2012Article
- Tertiary network in mammalian mitochondrial tRNAAsp revealed by solution probing and phylogeny.Nucleic acids research · 2009Article
- Decreased aminoacylation in pathology-related mutants of mitochondrial tRNATyr is associated with structural perturbations in tRNA architecture.RNA (New York, N.Y.) · 2008Article
- Pathogenic mechanism of a human mitochondrial tRNAPhe mutation associated with myoclonic epilepsy with ragged red fibers syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2007Article
- Post-transcriptional nucleotide modification and alternative folding of RNA.Nucleic acids research · 2006Review
- A T-stem slip in human mitochondrial tRNALeu(CUN) governs its charging capacity.Nucleic acids research · 2005Article
- Mitochondrial tRNA 3' end metabolism and human disease.Nucleic acids research · 2004Review
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In vitro transcription has proven to be a successful tool for preparation of functional RNAs, especially in the tRNA field, in which, despite the absence of post-transcriptional modifications, transcripts are correctly folded and functionally active. Human mitochondrial (mt) tRNA(Lys) deviates from this principle and folds into various inactive conformations, due to the absence of the post-transcriptional modification m(1)A9 which hinders base-pairing with U64 in the native tRNA. Unavailability of a functional transcript is a serious drawback for structure/function investigations as well as in deciphering the molecular mechanisms by which point mutations in the mt tRNA(Lys) gene cause severe human disorders. Here, we show that an engineered in vitro transcribed "pseudo-WT" tRNA(Lys) variant is efficiently recognized by lysyl-tRNA synthetase and can substitute for the WT tRNA as a valuable reference molecule. This has been exploited in a systematic analysis of the effects on aminoacylation of nine pathology-related mutations described so far. The sole mutation located in a loop of the tRNA secondary structure, A8344G, does not affect aminoacylation efficiency. Out of eight mutations located in helical domains converting canonical Watson-Crick pairs into G-U pairs or C.A mismatches, six have no effect on aminoacylation (A8296G, U8316C, G8342A, U8356C, U8362G, G8363A), and two lead to drastic decreases (5000- to 7000-fold) in lysylation efficiencies (G8313A and G8328A). This screening, allowing for analysis of the primary impact level of all mutations affecting one tRNA under comparable conditions, indicates distinct molecular origins for different disorders.
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