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

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, Michael N. Antoniou, Weilong Li, Qihua Tan, Sara L. Hillman, Vardhman K. Rakyan, David J. Williams and Michelle L. Holland ()
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Pui Pik Law: King’s College 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
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

Nature Communications, 2024, vol. 15, issue 1, 1-11

Abstract: 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.

Date: 2024
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DOI: 10.1038/s41467-024-49397-5

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