The DOI matches its Crossref record; 19 of the 19 references it cites were found in a registry or an index.
Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies
Abstract
Defects in mitochondrial DNA (mtDNA) are associated with several different human diseases, including the mitochondrial encephalomyopathies. The mutations include deletions but also duplications and point mutations. Individuals with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) carry a common A-to-G substitution in a highly conserved portion of the gene for transfer RNA(Leu(UUR)). Although the MELAS mutation may be comparable to the defect in the tRNA(Lys) gene associated with MERRF (myoclonus epilepsy associated with ragged-red fibres), it is also embedded in the middle of a tridecamer sequence necessary for the formation of the 3' ends of 16S ribosomal RNA in vitro. We found that the MELAS mutation results in severe impairment of 16S rRNA transcription termination, which correlates with a reduced affinity of the partially purified termination protein for the MELAS template. This suggests that the molecular defect in MELAS is the inability to produce the correct type and quantity of rRNA relative to other mitochondrial gene products.
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“Correct transcription of 16S mt-rRNA is impaired by the common mt-tRNA Leu(UUR) m.3243A N G mutation, which interferes with a transcription termination site located at the boundary of the 16S mt-rRNA and mt-tRNA Leu(UUR) genes, causing accumulation of an unprocessed RNA intermediate (RNA19) including 16S mt-rRNA, mt-tRNA Leu(UUR) and MTND1 [191][192][193].”
From Mitochondrial DNA mutations and human disease (2010) · cites this paper as [191]
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The mitochondrial genome: structure, transcription, translation and replication
Taanman, J.-W. (1999) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/s0005-2728(98)00161-3 · Cited by 1,635
Mitochondrial Genetics: A Paradigm for Aging and Degenerative Diseases?
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Mitochondrial DNA mutations and human disease
Tuppen, H. A. L., Blakely, E. L., Turnbull, D. M., & Taylor, R. W. (2010) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2009.09.005 · Cited by 676
“…common mt-tRNA Leu(UUR) m.3243A N G mutation, which interferes with a transcription termination site located at the boundary of the 16S mt-rRNA and mt-tRNA Leu(UUR) genes, causing accumulation of an unprocessed RNA intermediate (RNA19) including 16S mt-rRNA, mt-tRNA Leu(UUR) and MTND1 [191 – 193].”
BackgroundHuman Mitochondrial tRNAs: Biogenesis, Function, Structural Aspects, and Diseases
Suzuki, T., Nagao, A., & Suzuki, T. (2011) · Annual Review of Genetics · doi:10.1146/annurev-genet-110410-132531 · Cited by 554
Cyclins and cyclin-dependent kinases: a biochemical view
Pines, J. (1995) · Biochemical Journal · doi:10.1042/bj3080697 · Cited by 548
Metadata
- Authors
- Hess, J. F., Parisi, M. A., Bennett, J. L., & Clayton, D. A.
- Affiliations
- Stanford Medicine (US)
- Venue
- Nature
- Published
- 1991-05
- Volume
- 351
- Issue
- 6323
- Pages
- 236-239
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W1970693337
- Cited by
- 234
- References
- 18
- Citations by year
- 2026: 2 · 2025: 1 · 2023: 3 · 2022: 3 · 2021: 2 · 2020: 5 · 2019: 6 · 2018: 2 · 2017: 4 · 2016: 1 · 2015: 2 · 2014: 6 · 2013: 2 · 2012: 2
- FWCI
- 8.07
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA and protein synthesis mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › ATP Synthase and ATPases Research
- Keywords
- MELAS, mitochondrial encephalomyopathy, mitochondrial DNA point mutations, tRNA-Leu(UUR), 3' end formation, mitochondrial myopathy, lactic acidosis, stroke-like episodes, MERRF
- MeSH terms
- Base Sequence, Brain Diseases, Chromosome Mapping, DNA Mutational Analysis, DNA, Mitochondrial, Humans, Mitochondria, Muscle, Molecular Sequence Data, Mutation, Peptide Termination Factors, RNA, Ribosomal, RNA, Transfer, Transcription, Genetic, Blotting, Western, In Vitro Techniques
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