ArticleGenetics in medicine : official journal of the American College of Medical Genetics2020
Biases in arginine codon usage correlate with genetic disease risk.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 17 citations in OpenAlex.
- Review
- Avoiding Catastrophic Mutations Accurately Predicts Amino Acid to Codon Pairing.Journal of molecular evolution · 2026Article
- Precision therapeutic tRNA rescue of nonsense mutation R166X inJournal of precision medicine (Amsterdam, Netherlands) · 2025Article
- Multiple human enhancer RNAs contain long translated open reading frames.Genes & development · 2025Article
- Prioritizing disease-associated missense variants with chemoproteomic-detected amino acids.American journal of human genetics · 2025Article
- Uncovering codon usage patterns during murine embryogenesis and tissue-specific developmental diseases.Frontiers in genetics · 2025Article
- Chemoproteogenomic stratification of the missense variant cysteinome.Nature communications · 2024Article
- Multi-omic stratification of the missense variant cysteinome.bioRxiv : the preprint server for biology · 2023Article
- Mediating and maintaining methylation while minimizing mutation: Recent advances on mammalian DNA methyltransferases.Current opinion in structural biology · 2022Review
- Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe persistence of hypermutable CGN (CGG, CGA, CGC, CGU) arginine codons at high frequency suggests the possibility of negative selective pressure at these sites and that arginine codon usage could be a predictive indicator of human disease genes.
methodsWe analyzed arginine codons (CGN, AGG, AGA) from all canonical Ensembl protein coding gene transcripts before comparing the frequency of CGN codons between genes with and without human disease associations and with gnomAD constraint metrics.
resultsThe frequency of CGN codons among a gene's total arginine codon count was higher in genes linked to syndromic autism spectrum disorder (ASD) compared with genes not associated with ASD. A comparison of genes annotated as dominant or recessive with control genes not matching either classification revealed a progressive increase in CGN codon frequency. Moreover, CGN frequency was positively correlated with a gene's probability of loss-of-function intolerance (pLI) score and negatively correlated with observed-over-expected ratios for both loss-of-function and missense variants.
conclusionOur findings indicate that genes utilizing CGN arginine codons rather than AGG or AGA are more likely to underlie single-gene disorders, particularly for dominant phenotypes, and thus constitute candidate genes for the study of human genetic disease.
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