Cited by 234Mitochondrial Function and PathologyRNA and protein synthesis mechanismsATP Synthase and ATPases Research

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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Crossref · 10.1038/351236a0

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  1. Yoneda, M. et al. Biochem. Int. 21, 789–796 (1990).

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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
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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