de Crécy-Lagard, Valérie; Boccaletto, Pietro; Mangleburg, Carl G; Sharma, Puneet; Lowe, Todd M; Leidel, Sebastian A; Bujnicki, Janusz M (2019). Matching tRNA modifications in humans to their known and predicted enzymes. Nucleic acids research, 47(5), pp. 2143-2159. Oxford University Press 10.1093/nar/gkz011
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de Crécy-Lagard et al. - 2019 - Matching tRNA modifications in humans to their kno.pdf - Published Version Available under License Creative Commons: Attribution (CC-BY). Download (5MB) | Preview |
tRNA are post-transcriptionally modified by chemical modifications that affect all aspects of tRNA biology. An increasing number of mutations underlying human genetic diseases map to genes encoding for tRNA modification enzymes. However, our knowledge on human tRNA-modification genes remains fragmentary and the most comprehensive RNA modification database currently contains information on approximately 20% of human cytosolic tRNAs, primarily based on biochemical studies. Recent high-throughput methods such as DM-tRNA-seq now allow annotation of a majority of tRNAs for six specific base modifications. Furthermore, we identified large gaps in knowledge when we predicted all cytosolic and mitochondrial human tRNA modification genes. Only 48% of the candidate cytosolic tRNA modification enzymes have been experimentally validated in mammals (either directly or in a heterologous system). Approximately 23% of the modification genes (cytosolic and mitochondrial combined) remain unknown. We discuss these 'unidentified enzymes' cases in detail and propose candidates whenever possible. Finally, tissue-specific expression analysis shows that modification genes are highly expressed in proliferative tissues like testis and transformed cells, but scarcely in differentiated tissues, with the exception of the cerebellum. Our work provides a comprehensive up to date compilation of human tRNA modifications and their enzymes that can be used as a resource for further studies.
Item Type: |
Journal Article (Original Article) |
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Division/Institute: |
08 Faculty of Science > Department of Chemistry, Biochemistry and Pharmaceutical Sciences (DCBP) |
UniBE Contributor: |
Sharma, Puneet, Leidel, Sebastian Andreas |
Subjects: |
500 Science > 570 Life sciences; biology 500 Science > 540 Chemistry |
ISSN: |
0305-1048 |
Publisher: |
Oxford University Press |
Language: |
English |
Submitter: |
Christina Schüpbach |
Date Deposited: |
13 Jan 2020 08:56 |
Last Modified: |
05 Dec 2022 15:34 |
Publisher DOI: |
10.1093/nar/gkz011 |
PubMed ID: |
30698754 |
BORIS DOI: |
10.7892/boris.137060 |
URI: |
https://boris.unibe.ch/id/eprint/137060 |
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