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

Author

Listed:
  • Pui Pik Law

    (King’s College London
    Queen Mary University of London)

  • Liudmila A. Mikheeva

    (King’s College London)

  • Francisco Rodriguez-Algarra

    (Queen Mary University of London)

  • Fredrika Asenius

    (University College London)

  • Maria Gregori

    (University College London)

  • Robert A. E. Seaborne

    (Queen Mary University of London
    King’s College London)

  • Selin Yildizoglu

    (Queen Mary University of London)

  • James R. C. Miller

    (King’s College London)

  • Hemanth Tummala

    (Queen Mary University of London)

  • Robin Mesnage

    (King’s College London)

  • Michael N. Antoniou

    (King’s College London)

  • Weilong Li

    (University of Helsinki)

  • Qihua Tan

    (University of Southern Denmark)

  • Sara L. Hillman

    (University College London)

  • Vardhman K. Rakyan

    (Queen Mary University of London)

  • David J. Williams

    (University College London)

  • Michelle L. Holland

    (King’s College London)

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.

Suggested Citation

  • Pui Pik Law & Liudmila A. Mikheeva & Francisco Rodriguez-Algarra & Fredrika Asenius & Maria Gregori & Robert A. E. Seaborne & Selin Yildizoglu & James R. C. Miller & Hemanth Tummala & Robin Mesnage & , 2024. "Ribosomal DNA copy number is associated with body mass in humans and other mammals," Nature Communications, Nature, vol. 15(1), pages 1-11, December.
    • Handle: RePEc:nat:natcom:v:15:y:2024:i:1:d:10.1038_s41467-024-49397-5
    DOI: 10.1038/s41467-024-49397-5
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