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Article

Evidence for strong purifying selection of human 47S ribosomal RNA genes.

Proceedings of the National Academy of Sciences of the United States of America - 21 Apr 2026

Ma Xufan, Chow Fiona, Galbraith Buz, Sultanov Daniel, Behar Eli K, Hochwagen Andreas

Abstract excerpt

The multicopy 47S ribosomal RNA (rRNA) genes are among the most highly expressed genes in the human genome, yet to-date essentially no disease-causing sequence variants have been identified. This lack of disease association is surprising, as defects in 47S rRNA transcription and changes in ribosomal protein dosage, as well as nucleotide changes in the mitochondrial rRNA, all result in disease. The failure to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41980101
DOI: 10.1073/pnas.2529741123
PMCID: PMC13082458

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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