ArticleNature communications2024
Ribosomal DNA copy number is associated with body mass in humans and other mammals.
Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed.
- Article
- Pathogenic germline variants in BRCA1/2 are associated with a decreased number of hypomethylated rDNA copies.Breast cancer research : BCR · 2026Article
- Dynamic evolution and hierarchical regulation of rDNA in polyploid oat.The Plant journal : for cell and molecular biology · 2026Article
- Culture medium modulates nucleolar architecture and disrupts ribosomal RNA levels in preimplantation mouse embryos.The Journal of reproduction and development · 2026Article
- Germline sequence variation within the ribosomal DNA is associated with human complex traits.Cell genomics · 2026Article
- Associations of rDNA copy numbers and global DNA methylation with myocardial infarction.Frontiers in cardiovascular medicine · 2026Article
- Mitochondrial dysfunction mediates the association between mercury exposure and lipid metabolism in children and adolescents.Lipids in health and disease · 2025Article
- How Early-Life Programming During Embryogenesis Imprints Cellular Memory.International journal of molecular sciences · 2025Review
- Ribosome heterogeneity arising from common and rare rRNA sequence variants affects diverse human phenotypes.medRxiv : the preprint server for health sciences · 2025Article
- Sperm rDNA Copy Number and Methylation Are Associated with Male-Factor Infertility.International journal of molecular sciences · 2025Article
- Anticancer drug development against ribosome synthesis and the nucleolus.Biochemical Society transactions · 2025Article
- Phenotypic tolerance for rDNA copy number variation within the natural range of C. elegans.PLoS genetics · 2025Article
- Article
- A history of omics discoveries reveals the correlates and mechanisms of loading-induced hypertrophy in adult skeletal muscle. 2024 CaMPS young investigator award invited review.American journal of physiology. Cell physiology · 2025Review
- Assessing Human Ribosomal DNA Variation and Its Association With Phenotypic Outcomes.BioEssays : news and reviews in molecular, cellular and developmental biology · 2025Review
- Article
- Simultaneous quantification of rDNA methylation and copy number: Constraints to natural variation in humans and cell lines.PloS one · 2025Article
- Relative rDNA copy number is not associated with resistance training-induced skeletal muscle hypertrophy and does not affect myotube anabolism in vitro.American journal of physiology. Regulatory, integrative and comparative physiology · 2024Article
- Directional selection, not the direction of selection, affects telomere length and copy number at ribosomal RNA loci.Scientific reports · 2024Article
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Authors and funding
17 authors.
Funding
Abstract
Body mass results from a complex interplay between genetics and environment. Previous studies of the genetic contribution to body mass have excluded repetitive regions due to the technical limitations of platforms used for population scale studies. Here we apply genome-wide approaches, identifying an association between adult body mass and the copy number (CN) of 47S-ribosomal DNA (rDNA). rDNA codes for the 18 S, 5.8 S and 28 S ribosomal RNA (rRNA) components of the ribosome. In mammals, there are hundreds of copies of these genes. Inter-individual variation in the rDNA CN has not previously been associated with a mammalian phenotype. Here, we show that rDNA CN variation associates with post-pubertal growth rate in rats and body mass index in adult humans. rDNA CN is not associated with rRNA transcription rates in adult tissues, suggesting the mechanistic link occurs earlier in development. This aligns with the observation that the association emerges by early adulthood.
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