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; Michelle L. Holland

doi:10.1038/s41467-024-49397-5

Nature Communications (Jun 2024)

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,
Michelle L. Holland

Affiliations

Pui Pik Law: Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King’s College London
Liudmila A. Mikheeva: Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King’s College London
Francisco Rodriguez-Algarra: The Blizard Institute, School of Medicine and Dentistry, Queen Mary University of London
Fredrika Asenius: UCL EGA Institute for Women’s Health, University College London
Maria Gregori: UCL EGA Institute for Women’s Health, University College London
Robert A. E. Seaborne: The Blizard Institute, School of Medicine and Dentistry, Queen Mary University of London
Selin Yildizoglu: The Blizard Institute, School of Medicine and Dentistry, Queen Mary University of London
James R. C. Miller: Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King’s College London
Hemanth Tummala: The Blizard Institute, School of Medicine and Dentistry, Queen Mary University of London
Robin Mesnage: Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King’s College London
Michael N. Antoniou: Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King’s College London
Weilong Li: Population Research Unit, University of Helsinki
Qihua Tan: Epidemiology, Biostatistics and Biodemography, Department of Public Health, University of Southern Denmark
Sara L. Hillman: UCL EGA Institute for Women’s Health, University College London
Vardhman K. Rakyan: The Blizard Institute, School of Medicine and Dentistry, Queen Mary University of London
David J. Williams: UCL EGA Institute for Women’s Health, University College London
Michelle L. Holland: Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King’s College London

DOI: https://doi.org/10.1038/s41467-024-49397-5
Journal volume & issue: Vol. 15, no. 1
pp. 1 – 11

Abstract

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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.

Published in Nature Communications

ISSN: 2041-1723 (Online)
Publisher: Nature Portfolio
Country of publisher: United Kingdom
LCC subjects: Science
Website: https://www.nature.com/ncomms/

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