Abstract
Chromosomes not only carry transcribed genes and their regulatory DNA sequences, but also contain regions that are required for the stability and maintenace of the chromosome as a unit. These include centromeres, telomeres and origins of replication. It is clear for replication origins and centromeres that the positions of these chromosomal organelles are determined by sites of the appropriate DNA sequences, but also that functional performance requires one or more contributing proteins. Telomeres are also structurally complex, with one or more DNA components, including simple telomeric repeats and more complex telomere-associated sequences, as well as one or more specific proteins that recognize these sequences. Accumulating evidence suggests that the simple telomeric repeats are required in most, but not all species, although they are not sufficient to determine the chromosomal position of a telomere.
Article PDF
Similar content being viewed by others
Avoid common mistakes on your manuscript.
References
Ashley T, Ward DC (1993) A hot spot of recombination coincides with an interstitial telomeric sequence in the Armenian hamster. Cytogenet Cell Genet 62
Ashley T, Cacheiro N, Russell LB, Ward DC (1993) Molecular characterization of a pericentric inversion in mouse chromosome-8 implicates telomeres as promoters of meiotic recombination. Chromosoma 102: 112–120
Baird SE, Klobutcher LA (1989) Characterization of chromosome fragmentation in two protozoans and identification of a candidate fragmentation sequence in Euplotes crassus. Genes Dev 3: 585–597
Baker BS, Carpenter ATC, Gatti M (1987) On the biological effects of mutants producing aneuploidy in Drosophila. In: Vig BK, Sandberg AA (eds) Aneuploidy, part A: Incidence and etiology. Liss, New York, pp 273–296
Barnett MA, Buckle VJ, Evans EP, Porter ACG, Rout D, Smith AG, Brown WRA (1993) Telomere directed fragmentation of mammalian chromosomes. Nucleic Acids Res 21: 27–36
Blaroin A, Prat A, Caron F (1987) Telomeric site position heterogeneity in macronuclear DNA of Paramecium primaurelia. Nucleic Acids Res 15: 1717–1728
Bennett CB, Lewis AL, Baldwin KK, Resnick MA (1993) Lethality induced by a single site-specific double-strand break in a dispensable yeast plasmid. Proc Natl Acad Sci USA 90: 5613–5617
Biessmann H, Mason JM (1988) Progressive loss of DNA sequences from terminal chromosome deficiencies in Drosophila melanogaster. EMBO J 7: 1081–1086
Biessmann H, Mason JM (1992) Genetics and molecular biology of telomeres. Adv Genet 30: 185–249
Biessmann H, Carter SB, Mason JM (1990a) Chromosome ends in Drosophila without telomeric DNA sequences. Proc Natl Acad Sci USA 87: 1758–1761
Biessmann H, Mason JM, Ferry C, d'Hulst M, Valgeirsdottir K, Traverse KL, Pardue ML (1990b) Addition of telomere-associated HeT DNA sequences “heals” broken chromosome ends in Drosophila. Cell 61: 663–673
Biessmann H, Champion LE, O'Hair M, Ikenaga K, Kasravi B, Mason JM (1992) Frequent transpositions of Drosophila melanogaster HeT-A transposable elements to receding chromosome ends. EMBO J 11: 4459–4469
Blackburn EH (1992) Telomerases. Annu Rev Biochem 61: 113–129
Bouffler S, Silver A, Cox R (1993a) The role of DNA repeats and associated secondary structures in genomic instability and neoplasia. Bioessays 15: 409–412
Bouffler S, Silver A, Papworth D, Coates J, Cox R (1993b) Murine radiation myeloid leukaemogenesis: relationship between interstitial telomere-like sequences and chromosome-2 fragile sites. Gene Chromosome Cancer 6: 98–106
Bourgain FM, Katinka MD (1991) Telomeres inhibit end to end fusion and enhance maintenance of linear DNA molecules injected into the Paramecium primaurelia macronucleus. Nucleic Acids Res 19: 1541–1547
Cangiano G, Lavolpe A (1993) Repetitive DNA sequences located in the terminal portion of the Caenorhabditis elegans chromosomes. Nucleic Acids Res 21: 1133–1139
Cappai R, Schravendijk MR van, Anders RF, Peterson MG, Thomas LM, Cowman AF, Kemp DJ (1989) Expression of the RESA gene in Plasmodium falciparum isolate FCR3 is prevented by a subtelomeric deletion. Mol Cell Bio 9: 3584–3587
Cherry JM, Blackburn EH (1985) The internally located telomeric sequences in the germline chromosomes of Tetrahymena are at the ends of transposon-like elements. Cell 43: 747–758
Danilevskaya ON, Petrov DA, Pavlova MN, Koga A, Kurenova EV, Hartl DL (1992) A repetitive DNA element, associated with telomeric sequences in Drosophila melanogaster, contains open reading frames. Chromosoma 102: 32–40
Fang GW, Cech TR (1993a) The beta-subunit of Oxytricha telomere-binding protein promotes G-quartet formation by telomeric DNA. Cell 74: 875–885
Fang GW, Cech TR (1993b) Characterization of a G-quartet formation reaction promoted by the beta-subunit of the Oxytricha telomere-binding protein. Biochemistry 32: 11646–11657
Farr C, Fantes J, Goodfellow PN, Cooke H (1991) Functional reintroduction of human telomeres into mammalian cells. Proc Natl Acad Sci USA 88: 7006–7010
Farr CJ, Stevanovic M, Thomson EJ, Goodfellow PN, Cooke HJ (1992) Telomere-associated chromosome segmentation: applications in genome manipulations and analysis. Nat Genet 2: 275–282
Fishel R, Lescoe MK, Rao MRS, Copeland NG, Jenkins NA, Garber J, Kane M, Kolodner R (1993) The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 75: 1027–1038
Forney JD, Blackburn EH (1988) Developmentally controlled telomere addition in wild-type and mutant paramecia. Mol Cell Biol 8: 251–258
Gilley D, Preer JJ, Aufderheide KJ, Polisky B (1988) Autonomous replication and addition of telomerelike sequences to DNA microinjected into Paramecium tetraurelia macronuclei. Mol Cell Biol 8: 4765–4772
Hastie ND, Allshire RC (1989) Human telomeres: fusion and interstitial sites. Trends Genet 5: 326–331
Hegemann JH, Fleig UN (1993) The centromere of budding yeast. Bioessays 15: 451–460
Henderson ST, Petes TD (1992) Instability of simple sequence DNA in Saccharomyces cerevisiae. Mol Cell Biol 12: 2749–2757
Herrick G, Cartinhour S, Dawson D, Ang D, Sheets R, Lee A, Williams K (1985) Mobile elements bounded by C4A4 telomeric repeats in Oxytrichia fallax. Cell 43: 759–768
Hunter DJ, Williams K, Cartinhour S, Herrick G (1989) Precise excision of telomere-bearing transposons during Oxytricha fallax macronuclear development. Genes Dev 3: 2101–2112
Ijdo JW, Baldini A, Wells RA, Ward DC, Reeders ST (1992) FRA2B is distinct from inverted telomere repeat arrays at 2q13. Genomics 12: 833–835
Itzhaki JE, Barnett MA, Mac Carthy AB, Buckle VJ, Brown WRA, Porter ACG (1992) Targeted breakage of a human chromosome mediated by cloned human telomeric DNA. Nat Genet 2: 238–287
Katinka MD, Bourgain FM (1992) Interstitial telomeres are hotspots for illegitimate recombination with DNA molecules injected into the macronucleus of Paramecium primaurelia. EMBO J 11: 725–732
Kramer KM, Haber JE (1993) New telomeres in yeast are initiated with a highly selected subset of TG(1–3) repeats. Genes Dev 7: 2345–2356
Krowczynska AM, Rudders RA, Krontiris TG (1990) The human minisatellite consensus at breakpoints of oncogene translocations. Nucl Acids Res 18: 1121–1127
Leach FS, Nicolaides NC, Papadopoulos N, Liu B, Jen J, Parsons R, Peltomaki P, Sistonen P, Aaltonen LA, Nystromlahti M, Guan XY, Zhang J, Meltzer PS, Yu JW, Kao FT, Chen DJ, Cerosaletti KM, Fournier REK, Todd S, Lewis T, Leach RJ, Naylor SL, Weissenbach J, Mecklin JP, Jarvinen H, Petersen GM, Hamilton SR, Green J, Jass J, Watson P, Lynch HT, Trent JM, Delachapelle A, Kinzler KW, Vogelstein B (1993) Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 75: 1215–1225
Lee C, Sasi R, Lin CC (1993) Interstitial localization of telomeric DNA sequences in the Indian muntjac chromosomes: further evidence for tandem chromosome functions in the karyotypic evolution of the Asian muntjacs. Cytogenet Cell Genet 63: 156–159
Levis RW (1989) Viable deletions of a telomere from a Drosophila chromosome. Cell 58: 791–801
Levis R (1993) Drosophila melanogaster does not share the telomeric repeat sequence of another invertebrate, Ascaris lumbricoides. Mol Gen Genet 236: 440–442
Levis RW, Ganesan R, Houtchens K, Tolar LA, Sheen FM (1993) Transposons in place of telomeric repeats at a Drosophila telomere. Cell 75: 1083–1093
Lock RB, Ross WE (1990) Inhibition of p34cdc2 kinase activity by etoposide or irradiation as a mechanism of G2 arrest in Chinese hamster ovary cells. Cancer Res 50: 3761–3766
Louis EJ, Haber JE (1992) The structure and evolution of subtelomeric-Y′ repeats in Saccharomyces cerevisiae. Genetics 131: 559–574
Lundblad V, Blackburn EH (1993) An alternative pathway for yeast telomere maintenance rescues est1-senescence. Cell 73: 347–360
Lundblad V, Szostak JW (1989) A mutant with a defect in telomere elongation leads to senescence in yeast. Cell 57: 633–643
Maizels N, Weiner AM (1993) The genomic tag hypothesis: modern viruses as molecular fossils of ancient strategies for genomic replication. In: Gesteland RF, Atkins JF (eds) The RNA world. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, pp 577–602
Mason JM, Biessmann H (1993) Transposition as a mechanism for maintaining telomere length in Drosophila. In: Vig BK (ed) Chromosome segregation and aneuploidy. Springer-Verlag, Berlin, pp 143–149
Mason JM, Strobel E, Green MM (1984) mu-2: mutator gene in Drosophila that potentiates the induction of terminal deficiencies. Proc Natl Acad Sci USA 81: 6090–6094
Matsumoto T, Fukui K, Niwa O, Sugawara N, Szostak JW, Yanagida M (1987) Identification of healed terminal DNA fragments in linear minichromosomes of Schizosaccharomyces pombe. Mol Cell Cell Biol 7: 4424–4430
McClintock B (1938) The fusion of broken ends of sister half-chromatids following chromatid breakage at meiotic anaphase. Mo Agric Exp Station Res Bull 290: 1–48
McEachern MJ, Hicks JB (1993) Unusually large telomeric repeats in the yeast Candida albicans. Mol Cell Biol 13: 551–560
Meyne J, Ratliff RL, Moyzis RK (1989) Conservation of the human telomere sequence (TTAGGG)n among vertebrates. Proc Natl Acad Sci USA 86: 7049–7053
Meyne J, Baker RJ, Hobart HH, Hsu TC, Ryder OA, Ward OG, Wiley JE, Würster-Hill DH, Yates TL, Moyzis RK (1990) Distribution of non-telomeric sites of the (TTAGGG)n telomeric sequence in vertebrate chromosomes. Chromosoma 99: 3–10
Morin GB (1991) Recognition of a chromosome truncation site associated with alpha-thalassaemia by human telomerase. Nature 353:1454–1456
Müller F, Wicky C, Spicher A, Tobler H (1991) New telomere formation after developmentally regulated chromosomal breakage during the process of chromatin diminution in Ascaris lumbricoides. Cell 67: 815–822
Müller HJ (1938) The remaking of chromosomes. Collect Net 8: 182–195
Murnane JP, Yu LC (1993) Acquisition of telomere repeat sequences by transfected DNA integrated at the site of a chromosome break. Mol Cell Biol 13: 977–983
Murray AW, Claus TE, Szostak JW (1988) Characterization of two telomeric DNA processing reactions in Saccharomyces cerevisiae. Mol Cell Biol 8: 4642–4650
Okazaki S, Tsuchida K, Maekawa H, Ishikawa H, Fujiwara H (1993) Identification of a pentanucleotide telomeric sequence, (TTAGG)n, in the silkworm Bombyx mori and in other insects. Mol Cell Biol 13: 1424–1432
Olovnikov AM (1973) A theory of marginotomy. J Theor Biol 41: 181–190
Park VM, Gustashaw KM, Wathen TM (1992) The presence of interstitial telomeric sequences in constitutional chromosome abnormalities. Am J Hum Genet 50: 914–923
Parsons R, Li GM, Longley MJ, Fang WH, Papadopoulos N, Jen J, Delachapelle A, Kinzler KW, Vogelstein B, Modrich P (1993) Hypermutability and mismatch repair deficiency in RER+ tumor cells. Cell 75: 1227–1236
Petit C, Levilliers J, Weissenbach J (1988) Physical mapping of the human pseudoautosomal region; comparison with genetic linkage map. EMBO J 7: 2369–2376
Pluta AF, Zakian VA (1989) Recombination occurs during telomere formation in yeast. Nature 337: 429–433
Pologe LG, Ravetch JV (1988) Large deletions result from breakage and healing of P. falciparum chromosomes. Cell 55: 869–874
Richards EJ, Ausubel FM (1988) Isolation of a higher eukaryotic telomere from Arabidopsis thaliana. Cell 53: 127–136
Richards EJ, Goodman HM, Ausubel FM (1991) The centromere region of Arabidopsis thaliana chromosome 1 contains telomere-similar sequences. Nucleic Acids Res 19: 3351–3357
Rouyer F, Simmler MC, Vergnaud G, Johnson C, Levilliers J, Petit C, Weissenbach J (1986) The pseudoautosomal region of the human sex chromosomes. Cold Spring Harb Symp Quant Biol 51: 221–228
Sandell LL, Zakian VA (1993) Loss of a yeast telomere: arrest, recovery, and chromosome loss. Cell 75: 729–739
Scherf A, Mattei D (1992) Cloning and characterization of chromosome breakpoints of Plasmodium falciparum: breakage and new telomere formation occurs frequently and randomly in subtelomeric genes. Nucleic Acids Res 20: 1491–1496
Scherthan H (1990) Localization of the repetitive telomeric sequence (TTAGGG)n in two muntjac species and implications for their karyotypic evolution. Cytogenet Cell Genet 53: 115–117
Schlötterer C, Tautz D (1992) Slippage synthesis of simple sequence DNA. Nucleic Acids Res 20: 211–215
Schubert I, Schriever-Schwemmer G, Werner T, Adler ID (1992) Telomeric signals in Robertsonian fusion and fission chromosomes —implications for the origin of pseudoaneuploidy. Cytogenet Cell Genet 59: 6–9
Shippey CA, Layton M, Secker-Walker LM (1990) Leukemia characterized by multiple sub-clones with unbalanced translocations involving different telomeric segments: case report and review of the literature. Genes Chromosom Cancer 2: 14–17
Silver A, Cox R (1993) Telomere-like DNA polymorphisms associated with genetic predisposition to acute myeloid leukemia in irradiated CBA mice. Proc Natl Acad Sci USA 90: 1407–1410
Stoll S, Zirlik T, Maercker C, Lipps HJ (1993) The organization of internal telomeric repeats in the polytene chromosomes of the hypotrichous ciliate Stylonychia lemnae. Nucleic Acids Res 21: 1738–1788
Strand M, Prolla TA, Liskay RM, Petes TD (1993) Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair. Nature 365: 274–276
Wang SS, Zakian VA (1990) Telomere-telomere recombination provides an express pathway for telomere acquisition. Nature 345: 456–458
Watson JD (1972) Origin of concatameric T7 DNA. Nature N Biol 239: 197–201
Weber B, Collins C, Robbins C, Magenis RE, Delaney AD, Gray JW, Hayden MR (1990) Characterization and organization of DNA sequences adjacent to the human telomere associated repeat (TTAGGG)n. Nucleic Acids Res 18: 3353–3361
Weiner AM (1988) Eukaryotic nuclear telomeres: molecular fossils of the RNP world. Cell 52: 155–158
Weinert TA, Hartwell LH (1988) The RAD9 gene controls the cell cycle response to DNA damage in Saccharomyces cerevisiae. Science 241: 317–322
Wells RA, Germino GG, Krishna S, Buckle VJ, Reeders ST (1990) Telomere-related sequences at interstitial sites in the human genome. Genomics 8: 699–704
White MJD (1973) Animal cytology and evolution. Cambridge University Press, London
Wiley JE, Meyne J, Little ML, Stout JC (1992) Interstitial hybridization sites of the (TTAGGG)n telomeric sequence on the chromosomes of some North American hylid frogs. Cytogenet Cell Genet 61: 55–57
Wilkie AO, Lamb J, Harris PC, Finney RD, Higgs DR (1990) A truncated human chromosome 16 associated with alpha thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n. Nature 346: 868–871
Williamson JR (1993) G-Quartets in biology: reprise. Proc Natl Acad Sci USA 90: 3124
Yokoyama R, Yao MC (1986) Sequence characterization of Tetrahymena macronuclear DNA ends. Nucleic Acids Res 14: 2109–2122
Yu GL, Blackburn EH (1991) Developmentally programmed healing of chromosomes by telomerase in Tetrahymena. Cell 67: 823–832
Yu GL, Bradley JD, Attardi LD, Blackburn EH (1990) In vivo alteration of telomere sequences and senescence caused by mutated Tetrahymena telomerase RNAs. Nature 344: 126–132
Zakian VA (1989) Structure and function of telomeres. Annu Rev Genet 23: 579–604
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Biessmann, H., Mason, J.M. Telomeric repeat sequences. Chromosoma 103, 154–161 (1994). https://doi.org/10.1007/BF00368007
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00368007