ArticleGene2014
tRNA gene copy number variation in humans.
Article in Gene, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.
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Who cites it
51 citing papers in PubMed, 69 citations in OpenAlex.
- From water to land: evolution of tRNA gene repertoires in photosynthetic organisms.The EMBO journal · 2026Review
- Multilevel genomic constraints shape nuclear tRNA gene organization in plants.The Plant journal : for cell and molecular biology · 2026Article
- The regulation, function and disease relevance of cytoplasmic tRNAs.Nature reviews. Molecular cell biology · 2026Review
- The diploid reference genome of a human embryonic stem cell line.bioRxiv : the preprint server for biology · 2026Article
- Comparative analysis of tRNAs across mouse strains reveals gene-specific conservation, divergence, and copy number variation.BMC genomics · 2026Article
- Allelic Variation at tRNA Genes in Three Nematode Species Indicates Mutation Load Despite Strong Purifying Selection.Genome biology and evolution · 2026Article
- Targeting tRNA-Arg-TCT-4-1 suppresses cancer cell growth and tumorigenesis.bioRxiv : the preprint server for biology · 2026Article
- Article
- Distribution of copy number alterations and impact of chromosome arm call thresholds for meningioma.Nature communications · 2025Article
- Evolutionary perspective of the CAG/CAA interplay coding for pure polyglutamine stretches in proteins.NAR genomics and bioinformatics · 2025Article
- Review
- Taxonomy of introns and the evolution of minor introns.Nucleic acids research · 2024Article
- Genome engineering on size reduction and complexity simplification: A review.Journal of advanced research · 2024Review
- Genome-wide repeat landscapes in cancer and cell-free DNA.Science translational medicine · 2024Article
- Selective gene expression maintains human tRNA anticodon pools during differentiation.Nature cell biology · 2024Article
- Transfer RNAs as dynamic and critical regulators of cancer progression.Nature reviews. Cancer · 2023Review
- Article
- tRNA dysregulation and disease.Nature reviews. Genetics · 2022Review
- tRNA derived small RNAs-Small players with big roles.Frontiers in genetics · 2022Review
- DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects.Biomedical journal · 2021Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
The human tRNAome consists of more than 500 interspersed tRNA genes comprising 51 anticodon families of largely unequal copy number. We examined tRNA gene copy number variation (tgCNV) in six individuals; two kindreds of two parents and a child, using high coverage whole genome sequence data. Such differences may be important because translation of some mRNAs is sensitive to the relative amounts of tRNAs and because tRNA competition determines translational efficiency vs. fidelity and production of native vs. misfolded proteins. We identified several tRNA gene clusters with CNV, which in some cases were part of larger iterations. In addition there was an isolated tRNALysCUU gene that was absent as a homozygous deletion in one of the parents. When assessed by semiquantitative PCR in 98 DNA samples representing a wide variety of ethnicities, this allele was found deleted in hetero- or homozygosity in all groups at ~50% frequency. This is the first report of copy number variation of human tRNA genes. We conclude that tgCNV exists at significant levels among individual humans and discuss the results in terms of genetic diversity and prior genome wide association studies (GWAS) that suggest the importance of the ratio of tRNALys isoacceptors in Type-2 diabetes.
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Registered trials
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.