Ribosomal RNA expression depends mostly on ribosomal DNA allele frequency

Pérez Cano, Pablo

Ribosomal RNA expression depends mostly on ribosomal DNA allele frequency

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Citation

Pérez Cano, P. Ribosomal RNA expression depends mostly on ribosomal DNA allele frequency. 2024. handle: http://hdl.handle.net/10230/68912

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Abstract

The ribosome is essential for translating mRNA into proteins, involving close cooperation between ribosomal proteins and rRNAs. Despite its importance, rRNA expression variation is poorly understood due to the complexity of rRNA genes. This study explores rRNA expression variation across tissues and individuals using GTEx consortium data. We identified ribosomal DNA variants from whole-genome sequencing and quantified their expression from RNA-sequencing data. Statistical differences between allele frequency and relative expression were assessed using MANTA and MANTARRAYA. We examined tissue-specific expression patterns and conducted differential expression analyses based on sex, age, genetic ancestry, and 57 clinical traits. Results show rDNA expression depends mostly on allele frequency with few exceptions.