Telomere

Christa Lese Martin, University of Chicago, Chicago, Illinois, USA
David H Ledbetter, University of Chicago, Chicago, Illinois, USA

Published online: July 2008

DOI: 10.1002/9780470015902.a0005787.pub2

Telomeres, the ‘caps’ at the ends of human chromosomes, consist of specialized DNA and protein complexes that help to protect chromosomes from degradation. Other unique characteristics of telomeric DNA include the sequence homology shared between subtelomeric DNA regions, a high gene density and an increased frequency of chromosomal imbalances.

Keywords: telomere; TTAGGG; subtelomeric domain; chromosome structure; fluorescence in situ hybridization (FISH), subtelomeric sequence homology

Figure 1. Diagram of the telomeric regions of human chromosomes. The telomeric regions of a human chromosome are depicted on the chromosome in the top of the figure. The bottom of the figure highlights a telomere region: the gray-shaded block at the end of the chromosome represents the TTAGGG repeat sequence, the diagonal striped region is the subtelomeric region, and the white area is unique DNA sequence.
close
 References
    Bailey JA, Yavor AM, Massa HF, Trask BJ and Eichler EE (2001) Segmental duplications: organization and impact within the current human genome project assembly. Genome Research 11(6): 1005–1017.
    Flint J, Bates GP, Clark K et al. (1997) Sequence comparison of human and yeast telomeres identifies structurally distinct subtelomeric domains. Human Molecular Genetics 6(8): 1305–1313.
    Knight SJ, Regan R, Nicod A et al. (1999) Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 354(9191): 1676–1681.
    Knight SJL, Lese CM, Precht K et al. (2000) An optimized set of human telomere clones for studying telomere integrity and architecture. American Journal of Human Genetics 67(2): 320–332.
    Ledbetter DH (1992) Cryptic translocations and telomere integrity. American Journal of Human Genetics 51: 451–456.
    Macina RA, Negorev DG, Spais C et al. (1994) Sequence organization of the human chromosome 2q telomere. Human Molecular Genetics 3: 1847–1853.
    National Institutes of Health, Institute of Molecular Medicine Collaboration et al. (1996) A complete set of human telomeric probes and their clinical application. Nature Genetics 14: 86–89.
    Saccone S, De Sario A, Della Valle G and Bernardi G (1992) The highest gene concentrations in the human genome are in telomeric bands of metaphase chromosomes. Proceedings of the National Academy of Sciences of the USA 89: 4913–4917.
    Smogorzewska A, van Steensel B, Bianchi A et al. (2000) Control of human telomere length by TRF1 and TRF2. Molecular and Cell Biology 20(5): 1659–1668.
    Wilkie AO, Higgs DR, Rack KA et al. (1991) Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16. Cell 64(3): 595–606.
 Further Reading
    Bass HW, Marshall WF, Sedat JW, Agard DA and Cande WZ (1997) Telomeres cluster de novo before the initiation of synapsis: a three-dimensional spatial analysis of telomere positions before and during meiotic prophase. Cell Biology 137: 5–18.
    Blackburn EH (1991) Structure and function of telomeres. Nature 350: 569–573.
    Cross SH, Allshire RC, McKay SJ, McGill NI and Cooke HJ (1987) Cloning of human telomeres by complementation in yeast. Nature 338: 771–774.
    Evans SK, Bertuch AA and Lundblad V (1999) Telomeres and telomerase: at the end, it all comes together. Trends in Cell Biology 9(8): 329–331.
    Fajkus J, Sýkorová E and Leitch AR (2005) Telomeres in evolution and evolution of telomeres. Chromosome Research 13: 469–479.
    Haussmann MF and Mauck RA (2008) Telomeres and longevity: testing an evolutionary hypothesis. Molecular Biology and Evolution 25: 220–228.
    Klapper W, Parwaresch R and Krupp G (2001) Telomere biology in human aging and aging syndromes. Mechanisms of Ageing and Development 122: 695–712.
    Meyne J, Ratliff RL and Moyzis RK (1989) Conservation of the human telomere sequence (TTAGGG)n among vertebrates. Proceedings of the National Academy of Sciences of the USA 86(18): 7049–7053.
    Moyzis RK (1991) The human telomere. Scientific American 265(2): 48–55.
    Moyzis RK, Buckingham JM, Cram LS et al. (1988) A highly conserved repetitive DNA sequence, (TTAGGG)n, present at the telomeres of human chromosomes. Proceedings of the National Academy of Sciences of the USA 85: 6622–6626.
    Riethman HC, Moyzis RK, Meyne J, Burke DT and Olson MV (1989) Cloning human telomeric DNA fragments into Saccharomyces cerevesiae using a yeast artificial chromosome vector. Proceedings of the National Academy of Sciences of the USA 86: 6240–6244.
    Scherthan H, Weich S, Schwegler H, Heyting C and Harle M (1996) Centromere and telomere movements during early meiotic prophase of mouse and man are associated with the onset of chromosome pairing. Cell Biology 134: 1109–1125.
    Shay JW, Zou Y, Hiyama E and Wright WE (2001) Telomerase and cancer. Human Molecular Genetics 10(7): 677–685.
    Verdun RE and Karlseder J (2007) Replication and protection of telomeres. Nature 447: 924–931.
    Villasante A, Abad JP and Méndez-Lago M (2007) Centromeres were derived from telomeres during the evolution of the eukaryotic chromosome. Proceedings of the National Academy of Sciences of the USA 104: 10542–10547.

Related Sub-Topics:

Basic Cell Biology, Protein, RNA and DNA | Nucleic Acid Structure | Chromosomes and Chromatin Modifications
Contact Editor close
Submit a note to the editor about this article by filling in the form below.

* Required Field

Article Title: Telomere
 
How to Cite close
Martin, Christa Lese, and Ledbetter, David H(Jul 2008) Telomere. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0005787.pub2]