In vitro 3'-end endonucleolytic processing defect in a human mitochondrial tRNASer(UCN) precursor with the U7445C substitution, which causes non-syndromic deafness
Open accessAbstract
Eukaryotic tRNAs are transcribed as precursors. A 5'-end leader and 3'-end trailer are endonucleolytically removed by RNase P and 3'-tRNase before 3'-end CCA addition, aminoacylation, nuclear export and translation. 3'-End -CC can be a 3'-tRNase anti-determinant with the ability to prevent mature tRNA from recycling through 3'-tRNase. Twenty-two tRNAs punctuate the two rRNAs and 13 mRNAs in long, bidirectional mitochondrial transcripts. Accurate mitochondrial gene expression thus depends on endonucleolytic excision of tRNAs. Various mitochondrial diseases and syndromes could arise from defective tRNA end processing. The U7445C substitution in the human mitochondrial L-strand transcript (U74C directly following the discriminator base of tRNA(Ser(UCN))) causes non-syndromic deafness. The sequence of the precursor (G/UCU) becomes G/CCU, resembling a 3'-tRNase anti-determinant. We demonstrate that a tRNA(Ser(UCN)) precursor with the U7445C substitution cannot be processed in vitro by 3'-tRNase from human mitochondria. A 3'-end processing defect in this tRNA precursor could thus be responsible for mitochondrial disease.
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m.7445T N C reduces the efficiency of 3′-cleavage.
“whilst the mt-tRNA Ser(UCN) m.7445T N C transition reduces the efficiency of 3′-cleavage [195].”
From Mitochondrial DNA mutations and human disease (2010) · cites this paper as [195]
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Mitochondrial DNA mutations and human disease
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- Authors
- Levinger, L.
- Affiliations
- York College, City University of New York (US)
- Corresponding author
- Levinger, L.
- ORCID
- Levinger, L.
- Venue
- Nucleic Acids Research
- Publisher
- Oxford University Press (OUP)
- Published
- 2001-11-01
- Volume
- 29
- Issue
- 21
- Pages
- 4334-4340
- ISSN
- 0305-1048 (ISSN-L)
- 1362-4962
- PMC
- PMC60182
- OpenAlex
- W2115054680
- Cited by
- 60
- References
- 37
- Citations by year
- 2024: 1 · 2020: 1 · 2018: 1 · 2017: 4 · 2016: 1 · 2015: 3 · 2014: 1 · 2013: 4 · 2012: 5
- FWCI
- 1.63
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Nucleic Acids Research (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Science Foundation (9904589)
- International Business Machines Corporation
- Boston College
- University of Pennsylvania
- State University of New York
- Pennsylvania State University
- National Institutes of Health (1r15gm057617-01)
- Medical Research Council
- National Institute of General Medical Sciences (S06GM008153, T34GM08498, R15GM57617, SO6GM08153, T34GM008498)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA and protein synthesis mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA modifications and cancer
- Keywords
- non-syndromic hearing loss, mitochondrial disease
- MeSH terms
- RNA, Mitochondrial, Base Sequence, Cell Extracts, Deafness, Endoribonucleases, HeLa Cells, Humans, Mitochondria, Models, Genetic, Nucleic Acid Conformation, RNA, RNA Precursors, RNA, Transfer, Ser, Substrate Specificity, Templates, Genetic, RNA, Catalytic, Point Mutation, RNA 3' End Processing, Mitochondrial Diseases, Ribonuclease P
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