Skip to main content
Log in

Relationship between the number and function of human ribosomal genes

  • Original Investigations
  • Published:
Human Genetics Aims and scope Submit manuscript

Summary

The relative number of ribosomal RNA genes of the acrocentric chromosomes in one individual was measured by counting grains after in situ hybridization of 3H-labeled human 18S rDNA to fixed metaphase chromosomes. The relative amount of ribosomal RNA gene activity of each of the same chromosomes was estimated by determining the frequency with which the chromosome's nucleolus organizer region (NOR) was silver stained, the size of the silver-stained region, and how often the chromosome was found in satellite association. Results were similar in phytohemagglutinin-stimulated T-lymphocytes, Epstein-Barr virus transformed lymphoblasts, and fibroblasts. One chromosome 21 had few gene copies and low activity. One chromosome 22 had many gene copies but low activity. Both chromosomes 14 had few gene copies but high activity. The level of expression that can be achieved by rRNA gene clusters can, therefore, be determined by factors other than the number of gene copies.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  • Bernstein R, Dawson B, Griffiths J (1981) Human inherited marker chromosome 22 short-arm enlargement: investigation of rRNA gene multiplicity, Ag-band size, and acrocentric association. Hum Genet 58:135–139

    Google Scholar 

  • Croce CM, Talavera A, Basilico C, Miller OJ (1977) Suppression of the production of mouse 28S ribosomal RNA in mouse-human hybrids segregating mouse chromosomes. Proc Natl Acad Sci USA 74:694–697

    Google Scholar 

  • de Capoa A, Marlekaj P, Baldini A, Archidiancono N, Rocchi M (1985a) The transcriptional activity of individual ribosomal DNA gene clusters is modulated by serum concentration. J Cell Sci 74: 21–35

    Google Scholar 

  • de Capoa A, Marlekaj P, Baldini A, Rocchi M, Archidiacono N (1985b) Cytologic demonstration of differential activity of rRNA gene clusters in different human tissues. Hum Genet 69:212–217

    Google Scholar 

  • Evans HJ, Buckland RA, Pardue ML (1974) Location of the genes coding for 18S and 28S ribosomal RNA in the human genome. Chromosoma 48:405–426

    Google Scholar 

  • Ferguson-Smith MA, Handmaker SD (1961) Observations on the satellited human chromosomes. Lancet I:638–640

    Google Scholar 

  • Goodpasture C, Bloom SE (1975) Visualization of nucleolus organizer regions in mammalian chromosomes using silver stain. Chromosoma 53:37–50

    Google Scholar 

  • Harper ME, Saunders GF (1981) Localisation of single copy DNA sequences on G-banded human chromosomes by in situ hybridization. Chromosoma 83:431–439

    Google Scholar 

  • Henderson AS, Atwood KC (1976) Satellite-association frequency and rDNA content of a double-satellited chromosome. Hum Genet 31:113–115

    Google Scholar 

  • Henderson AS, Warburton D, Atwood KC (1972) Location of ribosomal DNA in the human chromosome complement. Proc Natl Acad Sci USA 69:3215–3219

    Google Scholar 

  • Howell WM, Black DA (1980) Controlled silver staining of nucleolus organizer regions with a protective colloidal developer: a one-step method. Experientia 36:1014–1016

    Google Scholar 

  • Lau YF, Wertelecki W, Pfeiffer RA, Arrighi FE (1979) Cytological analysis of a 14p+variant by means of N-banding and combinations of silver staining and chromosome bandings. Hum Genet 46: 75–82

    Google Scholar 

  • Miller DA, Dev VG, Tantravahi R, Miller OJ (1976) Supperssion of human nucleolus organizer activity in mouse-human somatic hybrid cells. Exp Cell Res 101:235–243

    Google Scholar 

  • Miller DA, Tantravahi R, Dev VG, Miller OJ (1977) Frequency of satellite association of human chromosomes is correlated with amount of Ag-staining of the nucleolus organizer region. Am J Hum Genet 29:490–502

    Google Scholar 

  • Miller DA, Breg WR, Warburton D, Dev VG, Miller OJ (1978) Regulation of rRNA gene expression in a human familial 14p+marker chromosome. Hum Genet 43:289–297

    Google Scholar 

  • Rigby P, Dieckmann M, Rhoses C, Berg P (1977) Labeling of DNA to high specific activity by in vitro nick translation with DNA polymerase I. J Mol Biol 113:237–251

    Google Scholar 

  • Sahar E, Latt SA (1978) Enhancement of banding patterns in human metaphase chromosomes by energy transfer. Proc Natl Acad Sci USA 75:5650–5654

    Google Scholar 

  • Tantravahi U, Breg WR, Wertelecki V, Erlanger BR, Miller OJ (1981a) Evidence for methylation of inactive human rRNA genes in amplified regions. Hum Genet 56:315–320

    Google Scholar 

  • Tantravahi U, Guntaka RV, Erlanger BF, Miller OJ (1981b) Amplified ribosomal RNA genes in a rat hepatoma cell line are enriched in 5-methylcytosine. Proc Natl Acad Sci USA 78:489–493

    Google Scholar 

  • Warburton D, Henderson AS (1979) Sequential silver staining and hybridization in situ on nucleolus organizing regions in human cells. Cytogenet Cell Genet 24:168–175

    Google Scholar 

  • Warburton D, Atwood K, Henderson AS (1976) Variation in the number of genes for rRNA among human acrocentric chromosomes: correlation with frequency of satellite association. Cytogenet Cell Genet 17:221–230

    Google Scholar 

  • Wilson GN, Hollar BA, Waterson JR, Schmickel R (1978) Molecular analysis of cloned human 18S ribosomal RNA segments. Proc Natl Acad Sci USA 75:5367–5371

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

de Capoa, A., Felli, M.P., Baldini, A. et al. Relationship between the number and function of human ribosomal genes. Hum Genet 79, 301–304 (1988). https://doi.org/10.1007/BF00282165

Download citation

  • Received:

  • Revised:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00282165

Keywords

Navigation