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Chromosome Research

, Volume 27, Issue 1–2, pp 5–17 | Cite as

Dosage effects of human ribosomal genes (rDNA) in health and disease

  • L. N. PorokhovnikEmail author
  • N. A. Lyapunova
Review

Abstract

Human ribosomal RNA genes encoding a pre-transcript of the three major ribosomal RNA (18S, 5.8S, and 28S rRNA) are tandemly repeated in human genome. Their total copy number varies from 250 to 670 per diploid genome with a mean of approximately 420 copies, but only a fraction of them is transcriptionally active. The functional consequences of human ribosomal RNA gene dosage are not widely known and often assumed to be negligible. Here, we review the facts of rRNA gene dosage effects on normal growth and aging, stress resistance of healthy individuals, and survivability of patients with chromosomal abnormalities, as well as on the risk and severity of some multifactorial diseases with proven genetic predisposition. An original hypothesis that rRNA gene dosage can be a modulating factor involved in the pathogenesis of schizophrenia and rheumatoid arthritis is put forward.

Keywords

rDNA Copy number Dosage effect Ribosomal gene Ribosomal repeat Schizophrenia Autism Growth Proteostasis 

Abbreviations

AD

Alzheimer’s disease

AgNOR

silver-stained metaphase nucleolus organizer region

ASD

autism spectrum disorders

CNV

copy number variation

CV

coefficient of variation

DS

Down’s syndrome

FMRP

family mental retardation protein

HLA

human leukocyte antigen

MFD

multifactorial diseases

NOR

nucleolus organizer region

NQH

nonradioactive quantitative dot-hybridization

qPCR

quantitative real-time polymerase chain reaction

RA

rheumatoid arthritis

rDNA

ribosomal DNA

rRNA

ribosomal RNA

SD

standard deviation

SZ

schizophrenia

totRNA

total cellular RNA

Notes

Authors’ contribution

LNP and NAL equally contributed in writing this review, including source material selection, their arrangement in logical sequence, putting forward hypotheses and future prospects, etc. LNP translated the manuscript to English. Both authors participated in critical revision and approved the final manuscript before submission.

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© Springer Nature B.V. 2018

Authors and Affiliations

  1. 1.Research Centre for Medical GeneticsMoscowRussia

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