ArticleCell genomics2026
Germline sequence variation within the ribosomal DNA is associated with human complex traits.
Article in Cell genomics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Pathogenic germline variants in BRCA1/2 are associated with a decreased number of hypomethylated rDNA copies.Breast cancer research : BCR · 2026Article
- Evidence for strong purifying selection of humanProceedings of the National Academy of Sciences of the United States of America · 2026Article
- Complete genomes of a multi-generational pedigree to expand studies of genetic and epigenetic inheritance.bioRxiv : the preprint server for biology · 2025Article
- rDNAcaller: a fast and robust pipeline to call ribosomal DNA variants.NAR genomics and bioinformatics · 2025Article
- Ribosome heterogeneity arising from common and rare rRNA sequence variants affects diverse human phenotypes.medRxiv : the preprint server for health sciences · 2025Article
- Structures of Naked Mole-Rat, Tuco-Tuco, and Guinea Pig Ribosomes-Is rRNA Fragmentation Linked to Translational Fidelity?bioRxiv : the preprint server for biology · 2025Article
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Abstract
Ribosomal RNAs (rRNAs), essential components of the ribosome, are coded by the multi-copy ribosomal DNA (rDNA). Interestingly, rDNA displays substantial variation in all species, both as inter-individual differences in copy number (CN) and inter- and intragenomic sequence variation across copies (single-nucleotide variants [SNVs] and insertions/deletions [indels]). Whether germline rDNA sequence variation associates with human traits remains largely unknown. We here derive a stringently validated list of rDNA-associated SNVs and indels from UK Biobank whole-genome sequencing data, and we show that specific rDNA variants associate with human phenotypes independently of rDNA CN. Notably, variants within the 28S expansion segment 15L associate with body size traits. Variant combinations in the region present in actively translating ribosomes are predicted to alter the rRNA secondary structure. This represents the first large-scale association analysis of human traits with germline rDNA sequence variation, a largely ignored source of trait-relevant genetic variation to date.
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