Evidence map›Paper›PMID 37072429›Full record

ArticleNature communications2023

Copy number variation in tRNA isodecoder genes impairs mammalian development and balanced translation.

Laetitia A Hughes, Danielle L Rudler, Stefan J Siira, Tim McCubbin, Samuel A Raven, Jasmin M Browne, Judith A Ermer, Jeanette Rientjes, Jennifer Rodger, Esteban Marcellin and 2 more

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.

0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed
5.1field-weighted citation impact, top 4% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

24 citing papers in PubMed, 33 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
  4. Article
  5. Copy number evolution of conserved noncoding RNA gene families across mammals.Mammalian genome : official journal of the International Mammalian Genome Society · 2026
    Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Review
  11. Sex-biased duplicates are rapidly generated duringbioRxiv : the preprint server for biology · 2025
    Article
  12. Article
  13. Article
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  15. Article
  16. Review
  17. Article
  18. Article
  19. Article
  20. Molecular basis of neurodegeneration in a mouse model ofbioRxiv : the preprint server for biology · 2024
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 5 institutions in 1 country.

Laetitia A Hughes *Harry Perkins Institute of Medical Research, Perth, WA, Australia.
Danielle L Rudler *Harry Perkins Institute of Medical Research, Perth, WA, Australia.
Stefan J SiiraHarry Perkins Institute of Medical Research, Perth, WA, Australia.
Tim McCubbinAustralian Institute for Bioengineering and Nanotechnology, The University of Queensland, Brisbane, 4072, QLD, Australia.ORCID 0000-0002-9707-6532
Samuel A RavenHarry Perkins Institute of Medical Research, Perth, WA, Australia.
Jasmin M BrowneHarry Perkins Institute of Medical Research, Perth, WA, Australia.ORCID 0000-0002-1413-2026
Judith A ErmerHarry Perkins Institute of Medical Research, Perth, WA, Australia.ORCID 0000-0003-0234-9620
Jeanette RientjesMonash Genome Modification Platform, Monash University, 35 Rainforest Walk, Clayton, VIC, 3800, Australia.
Jennifer RodgerSchool of Biological Sciences (Physiology), The University of Western Australia, Crawley, WA, 6009, Australia.ORCID 0000-0003-3413-4229
Esteban MarcellinARC Centre of Excellence in Synthetic Biology, QEII Medical Centre, Nedlands, WA, 6009, Australia.ORCID 0000-0003-3173-7956
Oliver RackhamHarry Perkins Institute of Medical Research, Perth, WA, Australia. oliver.rackham@curtin.edu.au.ORCID 0000-0002-5301-9624
Aleksandra FilipovskaHarry Perkins Institute of Medical Research, Perth, WA, Australia. aleksandra.filipovska@uwa.edu.au.ORCID 0000-0002-6998-8403
Harry Perkins Institute of Medical Research · AUThe Kids Research Institute Australia · AUThe University of Queensland · AUMonash University · AUThe University of Western Australia · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The number of tRNA isodecoders has increased dramatically in mammals, but the specific molecular and physiological reasons for this expansion remain elusive. To address this fundamental question we used CRISPR editing to knockout the seven-membered phenylalanine tRNA gene family in mice, both individually and combinatorially. Using ATAC-Seq, RNA-seq, ribo-profiling and proteomics we observed distinct molecular consequences of single tRNA deletions. We show that tRNA-Phe-1-1 is required for neuronal function and its loss is partially compensated by increased expression of other tRNAs but results in mistranslation. In contrast, the other tRNA-Phe isodecoder genes buffer the loss of each of the remaining six tRNA-Phe genes. In the tRNA-Phe gene family, the expression of at least six tRNA-Phe alleles is required for embryonic viability and tRNA-Phe-1-1 is most important for development and survival. Our results reveal that the multi-copy configuration of tRNA genes is required to buffer translation and viability in mammals.

Indexed as

DNA Copy Number VariationsRNA, TransferAnimalsMammalsMiceRNA, Transfer

Identifiers

PMID37072429
PMCPMC10113395
OpenAlexW4366271416

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.