Skip to main content
SpringerLink
Log in

Terminal regions of mammal chromosomes: Plasticity and role in evolution

  • Theoretical Papers and Reviews
  • Published:
Russian Journal of Genetics Aims and scope Submit manuscript

Abstract

The review considers data on the composition, organization, and functional significance of terminal regions in mammalian chromosomes, including telomeres and subtelomeric regions. Because of specific structure, features of DNA replication, and characteristic localization in somatic and meiotic cells, these regions are hot spots for many events associated with genome functioning in mammals. Instability of these regions is of special interest. Evidence suggesting that instability of chromosomal regions containing telomeric DNA is a factor of chromosome evolution is discussed. The association of size and structure of telomeric regions with replicative aging and cell immortalization is considered. The review deals in detail with classical and alternative mechanisms of telomere size control, the significance of changes in telomeric region length in ontogeny, oncotransformation, and evolution. The issues related to telomere destabilization and the role of this process in chromosome rearrangement formation and chromosome evolution are discussed. The origin of telomere repeats in interstitial chromosome sites, including regions of evolutionary fusions-fissions is given special consideration. The possible role of ribosomal repeats and mechanisms similar to ALT (alternative lengthening of telomeres) in telomere reorganization in some taxa are discussed.

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

Access this article

Log in via an institution

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

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Murphy, W.J., Larkin, D.M., Everets-van der Wind, A., et al., Dynamics of Mammalian Chromosome Evolution Inferred from Multispecies Comparative Maps, Science, 2005, vol. 309, pp. 613–617.

    Article  PubMed  CAS  Google Scholar 

  2. Rubtsov, N.B., Rubtsova, N.V., Anoprienko, O.V., et al., Reorganization of the X Chromosome in Voles of the Genus Microtus, Cytogenet. Genome Res., 2002, vol. 99, pp. 323–329.

    Article  PubMed  CAS  Google Scholar 

  3. Lois, D.J. and Vershinin, A.V., Chromosome Ends: Different Sequences May Provide Conserved Functions, BioEssays, 2005, vol. 27, pp. 685–697.

    Article  CAS  Google Scholar 

  4. Muller, H.J., The Remaking of Chromosomes, Collecting Net, 1938, vol. 8, pp. 182–195.

    Google Scholar 

  5. McClintock, B., The Fusion of Broken Ends of Sister Half-Chromatids Following Chromatid Break-Age at Meiotic Anaphases, Uni. Mo. Exp. Sta. Res. Bull., 1938, vol. 290, pp. 1–48.

    Google Scholar 

  6. Bailey, S.M. and Murnane, J.P., Telomeres, Chromosome Instability and Cancer, Nucleic Acids Res., 2006, vol. 34, pp. 2408–2417.

    Article  PubMed  CAS  Google Scholar 

  7. Crabbe, L. and Karlseder, J., In the End, It’s All Structure, Curr. Mol. Med., 2005, vol. 5, pp. 29–38.

    Article  Google Scholar 

  8. Bailey, S.M., Meyne, J., Chen, D.J., et al., DNA Double-Strand Break Repair Proteins Are Required to Cap the Ends of Mammalian Chromosomes, Proc. Natl. Acad. Sci. USA, 1999, vol. 96, pp. 14899–14904.

    Article  PubMed  CAS  Google Scholar 

  9. Hahn, W.C. and Meyerson, M., Telomerase Activation, Cellular Immortalization and Cancer, Ann. Med., 2001, vol. 33, pp. 123–129.

    PubMed  CAS  Google Scholar 

  10. Van Steensel, B. and de Lange, T., Control of Telomere Length by the Human Telomeric Protein TRF1, Nature, 1997, vol. 385, pp. 740–743.

    Article  PubMed  Google Scholar 

  11. Smogorzewska, A., van Steensel, B., Bianchi, A., et al., Control of Telomere Length by TRF1 and TRF2, Mol. Cell Biol., 2000, vol. 20, pp. 1659–1668.

    Article  PubMed  CAS  Google Scholar 

  12. Saldanha, S.N., Andrews, L.G., and Tollefsbol, T.O., Assessment of Telomere Length and Factors that Contribute to Its Stability, Eur. J. Biochem., 2003, vol. 270, pp. 389–403.

    Article  PubMed  CAS  Google Scholar 

  13. Lansdorp, P.M., Major Catbacks at Chromosome Ends, Trends Biochem. Sci., 2005, vol. 30, pp. 338–395.

    Article  CAS  Google Scholar 

  14. Olovnikov, A.M., Principle of Marginotomy in Template Synthesis of Polynucleotides, Dokl. Akad. Nauk SSSR, 1971, vol. 201, pp. 1496–1499.

    PubMed  CAS  Google Scholar 

  15. Olovnikov, A., A Theory of Marginotomy: The Incomplete Copying of Template Margin in Enzymic Synthesis of Polynucleotides and Biological Significance of the Phenomenon, J. Theor. Biol., 1973, vol. 14, pp. 181–190.

    Article  Google Scholar 

  16. Harley, C.B., Telomeres and Aging, Cold Spring Harbor: Cold Spring Harbor Lab., 1995, pp. 247–263.

    Google Scholar 

  17. Counter, C.M., Avilion, A.A., LeFeuvre, C.E., et al., Telomere Shortening Associated with Chromosome Instability Is Arrested in Immortal Cells Which Express Telomerase Activity, EMBO J., 1992, vol. 11, pp. 1921–1929.

    PubMed  CAS  Google Scholar 

  18. Griffith, J.D., Comeau, L., Rosenfield, S., et al., Mammalian Telomeres and in a Large Duplex Loop, Cell, 1999, vol. 97, pp. 503–514.

    Article  PubMed  CAS  Google Scholar 

  19. Obe, G., Pfeiffer, P., Savage, J.R.K., et al., Chromosomal Aberrations: Formation, Identification and Distribution, Mutat. Res., 2002, vol. 504, pp. 17–36.

    PubMed  CAS  Google Scholar 

  20. Bhattacharyya, M.K. and Lustig, A.J., Telomere Dynamics in Genome Stability, Trends Biochem. Sci., 2006, vol. 31, pp. 114–122.

    Article  PubMed  CAS  Google Scholar 

  21. Zijlmans, J.M. Martens, U.M., Poon, S.S., et al., Telomeres in the Mouse Have Large Inter-Chromosomal Variations in the Number of T2AG3 Repeats, Proc. Natl. Acad. Sci. USA, 1997, vol. 94, pp. 7423–7438.

    Article  PubMed  CAS  Google Scholar 

  22. Zhu, L., Hathcock, K.S., Hande, P., et al., Telomere Length Regulation in Mice Is Linked to a Novel Chromosome Locus, Proc. Natl. Acad. Sci. USA, 1998, vol. 95, pp. 8648–8653.

    Article  PubMed  CAS  Google Scholar 

  23. Manning, E.L., Crosland, J., Dewey, M.J., and Van Zant, G., Influence of Inbreeding and Genetics on Telomere Length in Mice, Mamm. Genome, 2002, vol. 13, pp. 234–238.

    Article  PubMed  CAS  Google Scholar 

  24. Zhdanova, N.S., Karamisheva, T.V., Minina, J., et al., Unusual Distribution Pattern of Telomeric Repeats in the Shrews Sorex araneus and Sorex granarius, Chromosome Res., 2005, vol. 13, pp. 617–625.

    Article  PubMed  CAS  Google Scholar 

  25. Karlseder, J., Smogorzevska, A., and de Lange, T., Senescence Induced by Altered Telomere State, not Telomere Loss, Science, 2002, vol. 295, pp. 2446–2449.

    Article  PubMed  CAS  Google Scholar 

  26. Forsyth, N.R., Elder, F.B., Shay, J.W., and Wright, W.E., Lagomorphs (Rabbits, Pikas and Hares) Do not Use Telomere-Directed Replicative Aging in Vitro, Mech. Ageing Dev., 2005, vol. 126, pp. 685–691.

    Article  PubMed  CAS  Google Scholar 

  27. Lansdorp, P.M., Verwoerd, N.P., van de Rijke, F.M., et al., Heterogeneity in Telomere Length of Human Chromosomes, Hum. Mol. Genet., 1996, vol. 5, pp. 685–691.

    Article  PubMed  CAS  Google Scholar 

  28. Prowse, K.R. and Greider, C.W., Developmental and Tissue-Specific Regulation of Mouse Telomerase and Telomere Length, Proc. Natl. Acad. Sci. USA, 1995, vol. 92, pp. 4818–4822.

    Article  PubMed  CAS  Google Scholar 

  29. Modino, S. and Slijepcevic, P., Telomere Shortening in Mouse Strains with Constitutional Chromosomal Aberrations, Int. J. Radiat. Biol., 2002, vol. 78, pp. 757–764.

    Article  PubMed  CAS  Google Scholar 

  30. Poon, S.S., Martens, U.M., Ward, R.K., and Lansdorp, P.M., Telomere Length Measurements Using Digital Fluorescence Microscopy, Cytometry, 1999, vol. 36, pp. 267–278.

    Article  PubMed  CAS  Google Scholar 

  31. Stindl, R., Is Telomere Erosion a Mechanism of Species Extinction?, J. Exptl. Zool. B. Mol. Evol., 2004, vol. 302, pp. 111–120.

    Article  CAS  Google Scholar 

  32. Greider, C.M. and Blackburn, E.H., Identification of a Specific Telomere Terminal Transferase Activity in Tetrahymena Extracts, Cell, 1985, vol. 43, pp. 405–413.

    Article  PubMed  CAS  Google Scholar 

  33. Greider, C.M. and Blackburn, E.H., A Telomeric Sequence in the RNA of Tetrahymena Telomerase Required for Telomere Repeat Synthesis, Nature, 1989, vol. 336, pp. 331–337.

    Article  Google Scholar 

  34. Bodnar, A.G., Ouellette, M., and Frolkis, M., Extension of Life-Span by Introduction of Telomerase into Normal Human Cells, Science, 1998, vol. 279, pp. 349–352.

    Article  PubMed  CAS  Google Scholar 

  35. Morales, C.P., Holt, S.E., Ouellette, M., et al., Absence of Cancer-Associated Changes in Human Fibroblasts Immortalized with Telomerase, Nat. Genet., 1999, vol. 21, pp. 115–118.

    Article  PubMed  CAS  Google Scholar 

  36. Steinert, S., White, D.M., Zou, Y., et al., Telomere Biology and Cellular Aging in Nonhuman Primate Cells, Exp. Cell Res., 2002, vol. 272, pp. 146–152.

    Article  PubMed  CAS  Google Scholar 

  37. Cui, W., Aslam, S., Fletcher, J., et al., Stabilization of Telomere Length and Karyotypic Stability Are Directly Correlated with the Level of hTERT Gene Expression in Primary Fibroblasts, J. Biol. Chem., 2002, vol. 277, pp. 38 531–38 539.

    CAS  Google Scholar 

  38. Forsyth, N.R., Wright, W.E., and Shay, J.W., Telomerase and Differentiation in Multicellular Organisms: Turn It off, Turn It on, and Turn It off Again, Differentiation, 2002, vol. 69, pp. 188–197.

    Article  PubMed  CAS  Google Scholar 

  39. Wright, W.E. and Shay, J.W., Telomere Dynamics in Cancer Progression and Prevention: Fundamental Differences in Human and Mouse Telomere Biology, Nat. Med., 2000, vol. 6, pp. 849–451.

    Article  PubMed  CAS  Google Scholar 

  40. Bryan, T.M. and Reddel, R.R., Telomere Dynamics and Telomerase Activity in Vitro Immortalised Human Cells, Eur. J. Cancer, 1997, vol. 33, pp. 767–773.

    Article  PubMed  CAS  Google Scholar 

  41. Reddel, R.R., Bryan, T.M., and Murnane, J.P., Immortalized Cells with no Detectable Telomerase Activity, Biochemistry, 1997, vol. 62, pp. 1254–1262.

    PubMed  CAS  Google Scholar 

  42. Perrem, K., Colgin, L.M., Neumann, A.A., et al., Coexistence of Alternative Lengthening of Telomeres and Telomerase in hTERT-Transfected GM847 Cells, Mol. Cell. Biol., 2001, vol. 21, pp. 3862–3875.

    Article  PubMed  CAS  Google Scholar 

  43. Wang, R.C., Smogorzewska, A., and de Lange, T., Homologous Recombination Generates T-Loop Sized Deletions at Human Telomeres, Cell, 2004, vol. 119, pp. 355–368.

    Article  PubMed  CAS  Google Scholar 

  44. Sabatier, L., Ricoul, M., Pottier, G., and Murnane, J.P., The Loss of a Single Telomere Can Result in Instability of Multiple Chromosomes in a Human Tumor Cell Line, Mol. Cancer Res., 2005, vol. 3, pp. 139–150.

    Article  PubMed  CAS  Google Scholar 

  45. Reddel, R.R., Alternative Lengthening of Telomeres Telomerase, and Cancer, Cancer Lett., 2003, vol. 194, pp. 155–162.

    Article  PubMed  CAS  Google Scholar 

  46. Londono-Vallejo, J.A., Der-Sarkissian H., Cazes, L., et al., Alternative Lengthening of Telomeres is Characterized by High Rates of Telomeric Exchanges, Cancer Res., 2004, vol. 64, pp. 2324–2327.

    Article  PubMed  CAS  Google Scholar 

  47. Laud, P.R., Multani, A.S., Bailey, S.M., et al., Elevated Telomere-Telomere Recombination in WRN-Deficient, Telomere Dysfunctional Cells Promotes Escape from Senescence and Engagement of the ALT Pathway, Genes Dev., 2005, vol. 19, pp. 2560–2570.

    Article  PubMed  CAS  Google Scholar 

  48. Stewart, S.A., Telomere Maintenance and Tumorigenesis: An Alternative Road, Curr. Mol. Med., 2005, vol. 5, pp. 253–257.

    Article  PubMed  CAS  Google Scholar 

  49. Dunham, M.A., Neumann, A.A., Fasching, C.L., and Reddel, R.R., Telomere Maintenance by Recombination in Human Cells, Nat. Genet., 2000, vol. 26, pp. 388–389.

    Article  CAS  Google Scholar 

  50. Fasching, C.L., Bower, K., and Reddel, R.R., Telomerase-Independent Telomere Length Maintenance in the Absence of Alternative Lengthening on Telomeres-Associated Promyelocytic Leukaemia Bodies, Cancer Res., 2005, vol. 65, pp. 2722–2729.

    Article  PubMed  CAS  Google Scholar 

  51. Marciniak, R.A., Cavazos, D., Montellano, R., et al., A Novel Telomere Structure in a Human Alternative Lengthening of Telomeres Cell Line, Cancer Res., 2005, vol. 65, pp. 2730–2737.

    Article  PubMed  CAS  Google Scholar 

  52. Lundblad, V. and Blackburn, E.H., An Alternative Pathway for Yeast Telomere Maintenance Rescues est1-Senescence, Cell, 1993, vol. 73, pp. 347–360.

    Article  PubMed  CAS  Google Scholar 

  53. Chen, Q., Ijpma, A., and Greider, C.W., Two Survivor Pathways that Allow Growth in the Absence of Telomerase Are Generated by Distinct Telomere Recombination Events, Mol. Cell. Biol., 2001, vol. 21, pp. 1819–1827.

    Article  PubMed  CAS  Google Scholar 

  54. Natarajan, S. and McEachern, M.J., Recombinational Telomere Elongation Promoted by DNA Circles, Mol. Cell. Biol., 2002, vol. 22, pp. 4512–4521.

    Article  PubMed  CAS  Google Scholar 

  55. Nakamura, T.M., Cooper, J.P., and Cech, T.R., Two Modes of Survival of Fission Yeast without Telomerase, Science, 1998, vol. 282, pp. 493–496.

    Article  PubMed  CAS  Google Scholar 

  56. Le, S., Moore, J.K., Haber, J.E., and Greider, C.W., RAD50 and RAD51 Define Two Pathways that Collaborate to Maintain Telomeres in the Absence of Telomerase, Genetics, 1999, vol. 152, pp. 143–152.

    PubMed  CAS  Google Scholar 

  57. Maringele, L. and Lydall, D., Telomerase-and Recombination-Independent Immortalization of Budding Yeast, Genes Dev., 2004, vol. 18, pp. 2663–2675.

    Article  PubMed  CAS  Google Scholar 

  58. Takata, H., Tanaka, Y., and Matsuura, A., Late S Phase-Specific Recruitment of Mre11 Complex Triggers Hierarchical Assembly of Telomere Replication Proteins in Saccharomyces cerevisiae, Mol. Cell, 2005, vol. 17, pp. 573–583.

    Article  PubMed  CAS  Google Scholar 

  59. Zhu, X.D., Kuster, B., Mann, M., et al., Cell-Cycle-Regulated Association of RAD50/MRE11/NBS1 with TRF2 and Human Telomeres, Nat. Genet., 2000, vol. 25, pp. 347–352.

    Article  PubMed  CAS  Google Scholar 

  60. Cerone, M.A., Autexier, C., Londono-Vallejo, J.A., and Bacchetti, S.A., A Human Cell Line that Maintains Telomeres in the Absence of Telomerase and of Key Markers of ALT, Oncogene, 2005, vol. 24, pp. 7893–7901.

    Article  PubMed  CAS  Google Scholar 

  61. Cerone, M.A., Londono-Vallejo, J.A., and Bacchetti, S., Telomere Maintenance by Telomerase and by Recombination Can Coexist in Human Cells, Hum. Mol. Genet., 2001, vol. 10, pp. 1945–1952.

    Article  PubMed  CAS  Google Scholar 

  62. Hande, M.P., Samper, E., Lansdorp, P., and Blasco, M.A., Telomere Length Dynamics and Chromosomal Instability in Cells Derived from Telomerase Null Mice, J. Cell Biol., 1999, vol. 144, pp. 589–601.

    Article  PubMed  CAS  Google Scholar 

  63. Niida, H., Shinkai, Y., Hande, M.P., et al., Telomere Maintenance in Telomerase-Deficient Mouse Embryonic Stem Cells: Characterization of an Amplified Telomeric DNA, Mol. Cell. Biol., 2000, vol. 20, pp. 4115–4127.

    Article  PubMed  CAS  Google Scholar 

  64. Zhdanova, N.S., Minina, Y., Karamisheva, T.V., et al., Chromosome Termini in Two Sibling Species, Sorex araneus and Sorex granarius (Soricidae, Eulipotyphya), Abstr. 17th European Colloquium on Animal Cytogenetics and Gene Mapping, Lisbon (Portugal), 2006, p. 42.

  65. Pich, U., Fuchs, J., and Schubert, I., How Do Alliaceae Stabilize Their Chromosome Ends in the Absence of TTTAGGG Sequences?, Chromosome Res., 1996, vol. 4, pp. 207–213.

    Article  PubMed  CAS  Google Scholar 

  66. Fajkus, J., Sykorova, E., and Leitch, A.R., Telomeres in Evolution and Evolution of Telomeres, Chromosome Res., 2005, vol. 13, pp. 467–479.

    Article  CAS  Google Scholar 

  67. Gisselson, D., Jonson, T., Petersen, A., et al., Telomere Dysfunction Triggers Extensive DNA Fragmentation and Evolution of Complex Chromosome Abnormalities in Human Malignant Tumors, Proc. Natl. Acad. Sci. USA, 2001, vol. 98, pp. 12 683–12 688.

    Article  Google Scholar 

  68. Lengauer, C., How to Tumors Make Ends Meet?, Proc. Natl. Acad. Sci. USA, 2001, vol. 98, pp. 12 331–12 333.

    Article  CAS  Google Scholar 

  69. De Lange, T., Protection of Human Telomeres, Oncogene, 2002, vol. 21, pp. 532–540.

    Article  PubMed  Google Scholar 

  70. Lo, A.W., Sprung, C.N., Fouladi, B., et al., Chromosome Instability as a Result of Double-Strand Breaks Near Telomeres in Mouse Embryonic Stem Cells, Mol. Cell. Biol., 2002, vol. 22, pp. 4836–4850.

    Article  PubMed  CAS  Google Scholar 

  71. Zou, Y., Yi, X., Wright, W.E., and Shay, J.W., Human Telomerase Can Immortalize Indian Muntjac Cells, Exp. Cell Res., 2002, vol. 281, pp. 63–76.

    Article  PubMed  CAS  Google Scholar 

  72. Van Steensel, B., Smogorzewska, A., and de Lange, T., TRF2 Protects Human Telomeres from End-to-End Fusions, Cell, 1998, vol. 92, pp. 401–413.

    Article  PubMed  Google Scholar 

  73. Pfeiffer, P., Goedecke, W., and Obe, G., Mechanisms of DNA Double-Strand Break Repair and Their Potential to Induce Chromosomal Aberrations, Mutagenesis, 2000, vol. 15, pp. 289–302.

    Article  PubMed  CAS  Google Scholar 

  74. Espejel, S., Franco, S., Sgura, A., et al., Functional Interaction between DNA-PKcs and Telomerase in Telomere Length Maintenance, EMBO J., 2002, vol. 21, pp. 6275–6287.

    Article  PubMed  CAS  Google Scholar 

  75. Shore, D., Telomeric Chromatin: Replicating and Wrapping up Chromosome Ends, Curr. Opin. Genet. Dev., 2001, vol. 11, pp. 189–198.

    Article  PubMed  CAS  Google Scholar 

  76. Samper, E., Goytisolo, F.A., Slijepcevic, P., et al., Mammalian Ku86 Protein Prevents Telomeric Fusions Independently of the Length of TTAGGG Repeats and the G-Strand Overhang, EMBO Rep., 2000, vol. 1, pp. 244–252.

    Article  PubMed  CAS  Google Scholar 

  77. Goytisolo, F.A., Samper, E., Edmonson, S., et al., The Absence of the DNA-Dependent Protein Kinase Catalytic Subunit in Mice Results in Anaphase Bridges and in Increased Telomeric Fusions with Normal Telomere Length and G-Strand Overhang, Mol. Cell. Biol., 2001, vol. 21, pp. 3642–3651.

    Article  PubMed  CAS  Google Scholar 

  78. Meyne, J., Baker, R.J., Hobart, H.H., et al., Distribution of Non-Telomeric Sites of the (TTAGGG)n Telomeric Sequences in Vertebrate Chromosomes, Chromosoma, 1990, vol. 99, pp. 3–10.

    Article  PubMed  CAS  Google Scholar 

  79. Weber, B., Allen, L., Magenis, R.E., et al., Intrachromosomal Location of the Telomeric Repeat (TTAGGG)n, Mamm. Genome, 1991, vol. 1, pp. 211–216.

    Article  PubMed  CAS  Google Scholar 

  80. Azzalin, C.M., Mucciolo, E., Bertoni, L., and Giulotto, E., Fluorescence in situ Hybridization with a Synthetic (T2AG3)n Polynucleotide Detects Several Intrachromosomal Telomere-Like Repeats on Human Chromosomes, Cytogenet. Cell Genet., 1997, vol. 78, pp. 112–115.

    PubMed  CAS  Google Scholar 

  81. Azzalin, C.M., Nergadze, S.G., and Giulotto, E., Human Intrachromosomal Telomeric-Like Repeats: Sequence Organization and Mechanisms of Origin, Chromosoma, 2001, vol. 110, pp. 75–82.

    PubMed  CAS  Google Scholar 

  82. Ruiz-Herrera, A., Garcia, F., Azzalin, C., et al., Distribution of Intrachromosomal Telomeric Sequences (ITS) on Macaca fascicularis (Primates) Chromosomes and Their Implication for Chromosome Evolution, Hum. Genet., 2002, vol. 110, pp. 578–586.

    Article  PubMed  CAS  Google Scholar 

  83. Chi, J.X., Huang, L., Nie, W., et al., Defining the Orientation of the Tandem Fusions Occurred during the Evolution of Indian Muntjak Chromosomes by BAC Mapping, Chromosoma, 2005, vol. 114, pp. 167–172.

    Article  PubMed  CAS  Google Scholar 

  84. Hartmann, N. and Scherthan, H., Characterization of Ancestral Chromosome Fusion Points in the Indian Muntjac Deer, Chromosoma, 2004, vol. 112, pp. 213–220.

    Article  PubMed  CAS  Google Scholar 

  85. Flint, J., Craddock, C.F., Villegas, A., et al., Healing of Broken Human Chromosomes by the Addition of Telomeric Repeats, Am. J. Hum. Genet., 1994, vol. 55, no. 55, pp. 505–512.

    PubMed  CAS  Google Scholar 

  86. Fan, Y., Linardopoulou, E., Friedman, C., et al., Genomic Structure and Evolution of the Ancestral Chromosomal Fusion Site in 2q13-2q14.1 and Paralogous Regions on Other Human Chromosomes, Genome Res., 2002, vol. 12, pp. 1651–1662.

    Article  PubMed  CAS  Google Scholar 

  87. Nergadze, C.G., Rocchi, M., Azzalin, C.M., et al., Insertion of Telomeric Repeats at Telomeric Repeats at Intrachromosomal Sites During Primate Evolution, Genome Res., 2004, vol. 14, pp. 1704–1710.

    Article  PubMed  CAS  Google Scholar 

  88. Ashley, T. and Ward, T.A., “Hot Spot” of Recombination Coincides with an Interstitial Telomeric Sequence in the Armenian Hamster, Cytogenet. Cell Genet., 1993, vol. 62, pp. 169–171.

    PubMed  CAS  Google Scholar 

  89. Faravelli, M., Azzalin, C.M., Bertoni, L., et al., Molecular Organization of Interstitial Telomeric Sequences in Chinese Hamster Chromosomes, Gene, 2002, vol. 283, pp. 11–16.

    Article  PubMed  CAS  Google Scholar 

  90. Mondello, C., Pirzio, L., Azzalin, C.M., and Giulotto, E., Instability of Interstitial Telomeric Sequences in the Human Genome, Genomics, 2000, vol. 68, pp. 111–117.

    Article  PubMed  CAS  Google Scholar 

  91. Kilburn, A.E., Shea, M.J., Sargent, R.G., and Wilson, J.H., Insertion of a Telomere Repeat Sequence into a Mammalian Gene Causes Chromosome Instability, Mol. Cell. Biol., 2001, vol. 21, pp. 126–135.

    Article  PubMed  CAS  Google Scholar 

  92. Rivero, M.T., Mosquera, A., Goyanes, V., et al., Differences in Repair Profiles of Interstitial Telomeric Sites between Normal and DNA Double-Strand Break Repair Deficient Chinese Hamster Cells, Exp. Cell Res., 2004, vol. 295, pp. 161–172.

    Article  PubMed  CAS  Google Scholar 

  93. Perry, J., Slater, H.L., and Choo, K.H., Centric Fission—Simple and Complex Mechanism, Chromosome Res., 2004, vol. 12, pp. 627–640.

    Article  PubMed  CAS  Google Scholar 

  94. Warburton, P.E., Chromosomal Dynamics of Human Neocentromere Formation, Chromosome Res., 2004, vol. 12, pp. 617–626.

    Article  PubMed  CAS  Google Scholar 

  95. Scherthan, H., Localization of the Repetitive Telomeric Sequence (TTAGGG)n in Two Muntjac Species and Implications for Their Karyotypic Evolution, Cytogenet. Cell Genet., 1990, vol. 53, pp. 115–117.

    Article  PubMed  CAS  Google Scholar 

  96. Garagna, S., Broccoli, D., Redi, C.A., et al., Robertsonian Metacentrics of the House Mouse Lose Telomeric Sequences but Retain Some Minor Satellite DNA in the Pericentromeric Area, Chromosoma, 1995, vol. 103, pp. 685–692.

    PubMed  CAS  Google Scholar 

  97. Nanda, I., Schneider-Rasp, S., Winking, H., and Schmid, M., Loss of Telomeric Sites in the Chromosomes of Mus musculus domesticus (Rodentia: Muridae) during Robertsonian Rearrangements, Chromosome Res., 1995, vol. 3, pp. 399–409.

    Article  PubMed  CAS  Google Scholar 

  98. Rogatcheva, M.B., Ono, T., Sonta, S., et al., Robertsonian Metacentrics of the House Musk Shrew (Suncus murinus, Insectivora, Soricidae) Lose the Telomeric Sequences in the Centromeric Area, Genes Genet. Syst., 2000, vol. 75, pp. 155–158.

    Article  PubMed  CAS  Google Scholar 

  99. Garagna, S., Marziliano, N., Zuccotti, M., et al., Pericentromeric Organization at the Fusion Point of Mouse Robertsonian Translocation Chromosomes, Proc. Natl. Acad. Sci. U.S.A., 2001, vol. 98, pp. 171–175.

    Article  PubMed  CAS  Google Scholar 

  100. Castiglia, R., Gornung, E., and Corti, M., Cytogenetic Analyses of Chromosomal Rearrangements in Mus minutoides/musculoides from North-West Zambia Through Mapping of the Telomeric Sequence (TTAGGG)n and Banding Techniques, Chromosome Res., 2002, vol. 10, pp. 399–406.

    Article  PubMed  CAS  Google Scholar 

  101. Metcalfe, C.J., Eldridge, M.D., Toder, R., and Johnston, P.G., Mapping the Distribution of the Telomeric Sequence (T2AG3)n in the Macropodoidea (Marsupialia), by Fluorescence in Situ Hybridization. I. The Swamp Wallaby, Wallabia Bicolor, Chromosome Res., 1998, vol. 6, pp. 603–610.

    Article  PubMed  CAS  Google Scholar 

  102. Finato, A.O., Varella-Garcia, M., Tajara, E.H., et al., Intrachromosomal Distribution of Telomeric Repeats in Eumops glaucinus and Euntops perotis (Molossidae, Chiroptera), Chromosome Res., 2000, vol. 8, pp. 563–569.

    Article  PubMed  CAS  Google Scholar 

  103. Slijepcevic, P., Telomere Length Measurement by Q-FISH, Methods Cell Sci., 2001, vol. 23, pp. 17–21.

    Article  PubMed  CAS  Google Scholar 

  104. Saccone, S., De Sario, A., Valle, G.D., and Bernardi, G., The Highest Gene Concentrations in the Human Genome Are in Telomeric Bands of Metaphase Chromosomes, Proc. Natl. Acad. Sci. U.S.A., 1992, vol. 89, pp. 4913–4917.

    Article  PubMed  CAS  Google Scholar 

  105. Gilson, E., Laroche, T., and Gasser, S.M., Telomeres and the Functional Architecture of the Nucleus, Trends Cell Biol., 1993, vol. 3, pp. 128–134.

    Article  PubMed  CAS  Google Scholar 

  106. Van Deutekom, J.C., Bakker, E., Lemmers, R.J., et al., Evidence for Subtelomeric Exchanges of 3.3-Kb Tandemly Repeated Units between Chromosomes 4q35 and 10q26: Implications for Genetic Counselling and Etiology of FSHD1, Hum. Mol. Genet., 1996, vol. 5, pp. 1997–2003.

    Article  PubMed  Google Scholar 

  107. Baur, JA., Zou, Y., Shay, J.W., and Wright, W.E., Telomere Position Effect in Human Cells, Science, 2001, vol. 15, pp. 2075–2077.

    Article  Google Scholar 

  108. Liti, G., Peruffo, A., James, S.A., et al., Inferences of Evolutionary Relationships from a Population Survey of LTR-Retrotransposons and Telomeric-Associated Sequences in the Saccharomyces Sensu Stricto Complex, Yeast, 2005, vol. 22, pp. 177–192.

    Article  PubMed  CAS  Google Scholar 

  109. Mefford, H. and Trask, B.J., The Complex Structure and Dynamic Evolution of Human Subtelomeres, Nat. Rev. Genet., 2002, vol. 3, pp. 91–102.

    Article  PubMed  CAS  Google Scholar 

  110. Baird, D.M., Coleman, J., Rosser, Z.H., and Royle, N.J., High Levels of Sequence Polymorphism and Linkage Disequilibrium at the Telomere of 12q: Implications for Telomere Biology and Human Evolution, Am. J. Hum. Genet., 2000, vol. 66, pp. 235–250.

    Article  PubMed  CAS  Google Scholar 

  111. Der-Sarkissian, H., Vergnaud, G., Borde, Y.M., et al., Segmental Polymorphisms in the Proterminal Regions of a Subset of Human Chromosomes, Genome Res., 2002, vol. 12, pp. 1673–1678.

    Article  PubMed  CAS  Google Scholar 

  112. Armengol, L., Pujana, M.A., Cheung, J., et al., Enrichment of Segmental Duplication in Regions of Breaks of Synteny Between the Human and Mouse Genome Suggest Their Involment in Evolutionary Rearrangements, Hum. Mol. Genet., 2003, vol. 12, pp. 2201–2208.

    Article  PubMed  CAS  Google Scholar 

  113. Linardopoulou, E.V., Williams, E.M., Fan, Y., et al., Human Subtelomeres Are Hot Spot Interchromosomal Recombination and Segmental Duplication, Nature, 2005, vol. 437, pp. 94–100.

    Article  PubMed  CAS  Google Scholar 

  114. Flint, J., Bates, G.P., Clark, K., et al., Sequence Comparison of Human and Yeast Telomeres Identifies Structurally Distinct Subtelomeric Domains, Hum. Mol. Genet., 1997, vol. 6, pp. 1305–1314.

    Article  PubMed  CAS  Google Scholar 

  115. Riethman, H., Ambrosini, A., Castaneda, C., et al., Mapping and Initial Analysis of Human Subtelomeric Sequence Assemblies, Genome Res., 2004, vol. 14, pp. 18–28.

    Article  PubMed  CAS  Google Scholar 

  116. Martin, C.L., Wong, A., Gross, A., et al., The Evolutionary Origin of Human Subtelomeric Homologies—Or Where the Ends Begin, Am. J. Hum. Genet., 2002, vol. 70, pp. 972–984.

    Article  PubMed  CAS  Google Scholar 

  117. Mefford, H.C., Linardopoulou, E., Coil, D., et al., Comparative Sequencing of a Multicopy Subtelomeric Region Containing Olfactory Receptor Genes Revealed Multiple Interactions Between Non-Homologous Chromosomes, Hum. Mol. Genet., 2001, vol. 10, pp. 2362–2372.

    Article  Google Scholar 

  118. Van Overveld, P.G., Lemmers, R.J., Deidda, G., et al., Interchromosomal Repeat Array Interactions Between Chromosomes 4 and 10: a Model for Subtelomeric Plasticity, Hum. Mol. Genet., 2000, vol. 9, pp. 2879–2884.

    Article  PubMed  Google Scholar 

  119. Harper, L., Golubovskaya, I., and Zacheus Cande, W., A Bouquet of Chromosomes, J. Cell Sci., 2004, vol. 117, pp. 4025–4032.

    Article  PubMed  CAS  Google Scholar 

  120. Garagna, S., Zuccotti, M., Capanna, E., and Redi, C.A., High-Resolution Organization of Mouse Telomeric and Pericentromeric DNA, Cytogenet. Genome Res., 2002, vol. 96, pp. 125–129.

    Article  PubMed  CAS  Google Scholar 

  121. Tuzun, E., Bailey, J.A., and Eichler, E.E., Recent Segmental Duplications in the Working Draft Assembly of the Brown Norway Rat, Genome Res., 2004, vol. 14, pp. 493–506.

    Article  PubMed  CAS  Google Scholar 

  122. Li, Y.C., Lee, C., Sanoudou, D., et al., Interstitial Colocalization of Two Cervid Satellite DNAs Involved in the Genesis of the Indian Muntjac Karyotype, Chromosome Res., 2000, vol. 8, pp. 363–378.

    Article  PubMed  CAS  Google Scholar 

  123. Li, Y.C., Lee, C., Chang, W.S., et al., Isolation and Identification of a Novel Satellite DNA Family Highly Conserved in Several Cervidae Species, Chromosoma, 2002, vol. 111, pp. 176–183.

    PubMed  CAS  Google Scholar 

  124. Lui, W.C. and Fredga, K., Telomeric (TTAGGG)N Sequences Are Associated with Nucleolar Organizer Regions (NORs) in the Wood Lemming, Chromosome Res., 1999, vol. 7, pp. 235–240.

    Article  Google Scholar 

  125. Rakotoarisoa, G., Hirai, Y., Go, Y., et al., Chromosomal Localization of 18S RDNA and Telomere Sequence in the Aye-Aye, Daubentonia madagascariensis, Genes Genet. System., 2004, vol. 75, pp. 299–303.

    Article  Google Scholar 

  126. Taberlet, P., Fumagalli, L., and Hausser, J., Chromosomal Versus Mitochondrial DNA Evolution: Tracking the Evolutionary History of the Southwestern European Populations of the Sorex araneus Group (Mammalia, Insectivora), Evolution, 1994, vol. 48, pp. 623–636.

    Article  CAS  Google Scholar 

  127. Hall, K.J. and Parker, J.S., Stable Chromosome Fission Associated with rDNA Mobility, Chromosome Res., 1995, vol. 3, pp. 417–422.

    Article  PubMed  CAS  Google Scholar 

  128. Rousselet, J., Monti, L., Auger-Rosemberg, M.A., et al., Chromosome Fission Associated with Growth of Ribosomal DNA in Neodiprion abietis (Hymenoptera: Diprionidae), Proc. Biol. Sci., 2000, vol. 267, pp. 1819–1823.

    Article  PubMed  CAS  Google Scholar 

  129. Dobigny, G., Ozouf-Costaz, C., Bonillo, C., and Volobouev, V., Evolution of rRNA Gene Clusters and Telomeric Repeats During Explosive Genome Repatterning in Taterillus X (Rodentia, Gerbillinae), Cytogenet. Genome Res., 2003, vol. 103, pp. 94–103.

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Institute of Cytology and Genetics, Russian Academy of Sciences, Novosibirsk, 630090, Russia

    N. S. Zhdanova, N. B. Rubtsov & Yu. M. Minina

  2. Department of Genetics, Novosibirsk State University, Novosibirsk, 630090, Russia

    N. B. Rubtsov

Authors
  1. N. S. Zhdanova
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. N. B. Rubtsov
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Yu. M. Minina
    View author publications

    You can also search for this author in PubMed Google Scholar

Additional information

Original Russian Text © N.S. Zhdanova, N.B. Rubtsov, Yu.M. Minina, 2007, published in Genetika, 2007, Vol. 43, No. 7, pp. 873–886.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Zhdanova, N.S., Rubtsov, N.B. & Minina, Y.M. Terminal regions of mammal chromosomes: Plasticity and role in evolution. Russ J Genet 43, 721–732 (2007). https://doi.org/10.1134/S1022795407070022

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1134/S1022795407070022

Keywords

Search

Navigation