open access publication

Article, 2024

Ribosomal DNA copy number is associated with body mass in humans and other mammals

Nature Communications, ISSN 2041-1723, Volume 15, 1, Page 5006, 10.1038/s41467-024-49397-5

Contributors

Law, Pui Pik 0000-0001-8924-0462 [1] [2] Mikheeva, Liudmila A. [1] Rodriguez-Algarra, Francisco 0000-0002-4134-2141 [2] Åsenius, Fredrika 0000-0002-0393-0962 [3] Gregori, Maria [3] Seaborne, Robert A E 0000-0003-2491-3747 [1] [2] Yildizoglu, Selin 0000-0002-4572-5959 [2] Miller, James R. C. [1] Tummala, Hemanth 0000-0002-1413-745X [2] Mesnage, Robin 0000-0003-1732-4741 [1] Antoniou, Michael N. [1] Li, Weilong 0000-0001-9448-7953 [4] Tan, Qi-Hua 0000-0003-3194-0030 [5] Hillman, Sara L 0000-0003-2971-6865 [3] Rakyan, Vardhman K [2] Williams, David J 0000-0002-8186-9124 [3] Holland, Michelle L 0000-0003-0775-2902 (Corresponding author) [1]

Affiliations

  1. [1] King's College London
    2. [NORA names: United Kingdom; Europe, Non-EU; OECD];
  2. [2] Queen Mary University of London
    3. [NORA names: United Kingdom; Europe, Non-EU; OECD];
  3. [3] University College London
    4. [NORA names: United Kingdom; Europe, Non-EU; OECD];
  4. [4] University of Helsinki
    5. [NORA names: Finland; Europe, EU; Nordic; OECD];
  5. [5] University of Southern Denmark
    6. [NORA names: SDU University of Southern Denmark; University; Denmark; Europe, EU; Nordic; OECD]

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.

Keywords

CN variation, DNA, DNA copy number, adult body mass, adult humans, adult tissues, adulthood, approach, associated with body mass, association, body, body mass, body mass index, code, complex interplay, components, copy, copy number, development, early adulthood, environment, genes, genetics, genome-wide approaches, growth rate, humans, index, inter-individual variation, interplay, limitations of platforms, mammalian phenotypes, mammals, mass, mass index, number, observations, phenotype, platform, population, population scale studies, rDNA, rRNA, rRNA transcription rate, rate, rats, region, repetitive regions, ribosomal DNA copy number, ribosome, scale studies, study, technical limitations, tissue, transcription rate, variation

Funders

  • Biotechnology and Biological Sciences Research Council
  • National Institute for Health and Care Research
  • Medical Research Council
  • Academy of Medical Sciences
  • Rosetrees Trust

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