Article

Germline sequence variation within the ribosomal DNA is associated with human complex traits

2025-02-07

Abstract excerpt

The ribosome is one of the core macromolecules in the cell. The ribosomal RNAs (rRNA), which are essential components of the ribosome, are coded by the multi-copy ribosomal DNA (rDNA). Despite its highly conserved function, the rDNA displays substantial variation within all species analysed to date. This variation comprises both inter-individual differences in total copy number (CN) as well as inter- and intrageno...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 6e1c773f-310d-57bf-92b5-5a985fdd7149
DOI: 10.1101/2025.02.06.635840

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Germline sequence variation within the ribosomal DNA is associated with human complex traitsDOI 10.1101/2025.02.06.635840Read

Germline sequence variation within the ribosomal DNA is associated with human complex traits.Semantic proximity Read

Intra- and Inter-individual genetic variation in human ribosomal RNAsSemantic proximity Read

Widespread germline genetic heterogeneity of human ribosomal RNA genesSemantic proximity Read

Ribosomal DNA copy number variation shapes human physiology and disease riskSemantic proximity Read

Ribosomal DNA copy number is associated with body mass in humans and other mammalsSemantic proximity Read

Ribosomal DNA copy number variation shapes human physiology and disease riskSemantic proximity Read

Ribosome heterogeneity arising from common and rare rRNA sequence variants affects diverse human phenotypesSemantic proximity Read

Diversity of ribosomes at the level of rRNA variation associated with human health and disease.Semantic proximity Read

Variant ribosomal RNA alleles are conserved and exhibit tissue-specific expression.Semantic proximity Read

rDNAcaller: a fast and robust pipeline to call ribosomal DNA variantsSemantic proximity Read

Diversity of ribosomes at the level of rRNA variation associated with human health and diseaseSemantic proximity Read

The conservation landscape of the human ribosomal RNA gene repeatsSemantic proximity Read