Skip to main content
Log in

Intrachromosomal location of the telomeric repeat (TTAGGG)n

  • Original Contributions
  • Published:
Mammalian Genome Aims and scope Submit manuscript

Abstract

Eukaryotic telomeres are specialized DNA-protein structures that are thought to ensure chromosomal stability and complete replication of the chromosome ends. All telomeres which have been studied consist of a tandem array of G-rich repeats which seem to be sufficient for telomere function. Originally, the human telomeric repeat (TTAGGG)n was assumed to be exclusively located at the very end of all human chromosomes. More recent evidence, however, suggests an extension into proterminal regions. Very little is known about the interstitial distribution of telomeric repeats. Here we present evidence for the presence of (TTAGGG)n repeats in internal loci on the long and short arms of different human chromosomes. In addition, we studied the genomic organization of these repeats in more detail and discuss possible functions of interstitial telomeric repeats in the human genome.

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

Access this article

Subscribe and save

Springer+ Basic
$34.99 /Month
  • Get 10 units per month
  • Download Article/Chapter or eBook
  • 1 Unit = 1 Article or 1 Chapter
  • Cancel anytime
Subscribe now

Buy Now

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

  • Agard, D.A. and Sedat, J.W.: Three-dimensional architecture of a polytene nucleus. Nature 302: 676–681, 1983.

    Google Scholar 

  • Allshire, R.C., Gosen, J.R., Cross, S.H., Cranston, G., Rout, D., Sugawara, N., Szostak, J.W., Fantes, P.A., and Hastie, N.D.: Telomeric repeat from T. thermophila cross hybridizes with human telomeres. Nature 332: 656–659, 1988.

    Google Scholar 

  • Astrin, K.H., Warner, C.A., Yoo, H.-W., Goodfellow, P.J., Tsai, S.-F., and Desnick, R.J.: Regional assignment of the human uroporphinogen III synthase (UROS) gene to chromosome 10q25.2–q26.3. Hum Genet, in press, 1991.

  • Blackburn, E.H.: Telomeres and their synthesis. Science 249: 489–490, 1990.

    Google Scholar 

  • Blackburn, E.H. and Szostak, J.W.: The molecular structure of centromeres and telomeres. Ann Rev Biochem 53: 163–194, 1984.

    Google Scholar 

  • Brooks-Wilson, A.R., Goodfellow, P.N., Povey, S., Nevanlinna, H.A., de Jong, P.J., and Goodfellow, P.J.: Rapid cloning and characterization of new chromosome 10 DNA markers by Alu element-mediated PCR. Genomics 7: 614–620, 1990.

    Google Scholar 

  • Brown, W.R.A., MacKinnon, P.J., Villasante, A., Spurr, N., Buckle, V.J., and Dobson, M.J.: Structure and polymorphism of human telomere-associated DNA. Cell 63: 119–132, 1990.

    Google Scholar 

  • Chandley, A.C.: Asymmetry in chromosome pairing: A major factor in de novo mutation and the production of genetic disease in man. J Med Genet 26: 546–552, 1989.

    Google Scholar 

  • Cheng, J.F., Smith, C.L., and Cantor, C.R.: Isolation and characterization of a human telomere. Nucl Acids Res 17: 6109–6127, 1989.

    Google Scholar 

  • Church, G.M. and Gilbert, W.: Genomic sequencing. Proc Natl Acad Sci USA 81: 1991–1995, 1984.

    Google Scholar 

  • Cooke, H.J. and Smith, B.A.: Variability at the telomeres of the human X/Y pseudoautosomal region. Cold Spring Harbor Symp Quant Biol 51: 213–219, 1986.

    Google Scholar 

  • Cross, S., Lindsey, J., Fantes, J., McKay, S., McGill, N., and Cook, H.: The structure of a subterminal repeated sequence present on many human chromosomes. Nucl Acids Res 18: 6649–6657, 1990.

    Google Scholar 

  • DeLange, T., Shine, L., Myers, R., Cox, D.R., Naylor, S.L., Killery, A.M., and Varmus, H.E.: Structure and variability of human chromosome ends. Mol Cell Biol 10: 518–527, 1990.

    Google Scholar 

  • Dutrillaux, B.: Chromosomal evolution in primates: Tentative phylogeny from Microcebus murinus (Prosimian) to man. Hum Genet 48: 251–314, 1979.

    Google Scholar 

  • Greider, C.W. and Blackburn, E.H.: Identification of a specific telomere terminal transferase activity in Tetrahymena extracts. Cell 43: 405–413, 1985.

    Google Scholar 

  • Harper, M.E. and Saunders, G.F.: Localization of single copy DNA sequences on G-banded human chromosomes by in situ hybridization. Chromosoma 83: 431–439, 1981.

    Google Scholar 

  • Hastie, D.A. and Allshire, R.C.: Human telomeres: Fusion and interstitial sites. TIG 5: 326–331, 1989.

    Google Scholar 

  • Lejeune, J., Dutrillaux, B., Rethore, M.D., and Prieur, M.: Comparison de la structure fine des chromatides d'Homo sapiens et de Pan troglodytes. Chromosoma 43: 423–444, 1973.

    Google Scholar 

  • Morin, G.B.: The human telomere transferase enzyme is a ribonucleoprotein that synthesizes TTAGGG repeats. Cell 59: 521–529, 1989.

    Google Scholar 

  • Moyzis, R.K., Buckingham, J.M., Cram, L.S., Dani, M., Deaven, L.L., Jones, M.D., Meyne, J., Ratliff, R.L., and Wu, J.-R.: A highly conserved repetitive DNA sequence, (TTAGGG)n, present at the telomeres of human chromosomes. Proc Natl Acad Sci USA 85: 6622–6626, 1988.

    Google Scholar 

  • Rasmussen, S.W. and Holm, P.B.: Human meiosis. II. Chromosome pairing and recombination nodules in human spermatocytes. Carlsberg Res Commun 43: 275–327, 1978.

    Google Scholar 

  • Rouyer, F., de la Chapelle, A., Andersson, M., and Weissenbach, J.: An interspersed repeated sequence specific for human subtelomeric regions. EMBO J 9: 505–514, 1990.

    Google Scholar 

  • Saiki, R.K., Gelfand, D.H., Stoffel, S., Scharf, S.J., Higuchi, R.G., Horn, T.T., Mullis, K.B., and Erlich, H.A.: Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239: 487–491, 1988.

    Google Scholar 

  • Sambrook, J., Fritsch, E.F., and Maniatis, T.: Molecular Cloning: A Laboratory Manual, Second Edition, Cold Spring Harbor Laboratory Press, New York, 1989.

    Google Scholar 

  • Schweizer, D.: Simultaneous fluorescent staining of R bands and specific heterochromatic regions (DA-DAPI bands) in human chromosomes. Cytogenet Cell Genet 27: 190–193, 1980.

    Google Scholar 

  • Sutherland, G.R. and Hecht, F.: Fragile sites on human chromosomes. In Oxford Monographs on Medical Genetics, vol. 13, Oxford University Press, New York, 1985.

    Google Scholar 

  • Vogt, P.: Potential genetic functions of tandem repeated DNA sequence blocks in the human genome are based on a highly conserved “chromatim folding code.” Hum Genet 84: 301–336, 1990.

    Google Scholar 

  • Weber, B., Allen, L., Magenis, R.E., and Hayden, M.R.: A low copy repeat located in the subtelomeric regions of 14 different human chromosomal termini, Cytogenet Cell Genet in press, 1991.

  • Weber, B., Collins, C., Robbins, C., Magenis, R.E., Delaney, A.D., Gray, J.W., and Hayden, M.R.: Characterization and organization of DNA sequences adjacent to the human telomere associated repeat (TTAGGG)n. Nucl Acids Res 18: 3353–3361, 1990.

    Google Scholar 

  • Wells, R.A., Germino, G.G., Krishna, S., Buckle, V.J., and Reeders, S.T.: Telomere-related sequences at interstitial sites in the human genome. Genomics 8: 699–704, 1990.

    Google Scholar 

  • Wilkie, A.O.M., Lamb, J., Harris, P.C., Finney, R.D., and Higgs, D.R.: A truncated human chromosome 16 associated with α-thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n. Nature 346: 868–871, 1990.

    Google Scholar 

  • Zahler, A.M. and Prescott, D.M.: Telomere terminal transferase activity in the hypotrichous ciliate oxytricha nova and a model for replication of the ends of linear DNA molecules. Nucl Acids Res 16: 6953–6972, 1988.

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Weber, B., Allen, L., Magenis, R.E. et al. Intrachromosomal location of the telomeric repeat (TTAGGG)n . Mammalian Genome 1, 211–216 (1991). https://doi.org/10.1007/BF00352327

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00352327

Keywords

Navigation