Ribosomal DNA copy number alteration in blood sample from gastric cancer patients

Chen, Changchang; Feng, Lingfang; Chen, Junfei; Shen, Jian; Lin, Lijun

doi:10.1007/s11033-023-08630-y

Cited by 2 publications

(1 citation statement)

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“…Moreover, rDNA copy number was associated with age and in cancer [14][15][16] . In cancer, both rDNA copy number gain and loss have been reported in multiple studies [17][18][19][20][21] . This calls for further investigation into whether rDNA copy number changes are coupled with sequence variations and if such changes affect human health.…”

Section: Introductionmentioning

confidence: 99%

Diversity of ribosomes at the level of rRNA variation associated with human health and disease

Rothschild

Susanto

Spence

et al. 2023

Preprint

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The hundreds of copies of ribosomal-DNA genes are the dark-matter of the human genome as it is unknown whether they possess sequence variation that forms different types of ribosomes. Here, we have overcome the technical hurdle of long-read sequencing of full-length ribosomal-RNA (rRNA) and developed an efficient algorithm for rRNA-variant detection. We discovered hundreds of variants that are not silent but are incorporated into translating ribosomes. These include tens of abundant variants within functionally important domains of the ribosome. Strikingly, variants assemble into distinct ribosome subtypes encoded on different chromosomes. With this first atlas of expressed rRNA-variants, we discover the impact of rRNA variation on health and disease. Across human tissues, we observe tissue-specific variant expression in endoderm/ectoderm derived tissues. In cancer, low abundant rRNA-variants become highly expressed. Together, this study provides a curated atlas for exploring rRNA variation and functionally links ribosome variation to tissue-specific biology and cancer.

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