Ribosomal DNA Copy Number is Associated with Body Mass in Humans and Other Mammals

Overview

Journal Nat Commun

Specialty Biology

Date 2024 Jun 12

PMID 38866738

Authors

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

Soon will be listed here.

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.

Citing Articles

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