Article

Ribosome heterogeneity arising from common and rare rRNA sequence variants affects diverse human phenotypes

2025-09-04

Abstract excerpt

rRNA genes exhibit intra-individual hyper-variability and an outstanding question is their role in human health and disease. These include variants positioned at enigmatic regions of rRNA named Expansion-Segments (ESs) that protrude from the core of the ribosome, with poorly understood functions. In this study, we analyze rRNA variants in the UK Biobank population, revealing that common rRNA variations that give r...

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Literature Corpus work: ed5aa350-f127-5def-b500-9043f9601715
DOI: 10.1101/2025.09.02.25334953

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