Endings in the middle: Current knowledge of interstitial telomeric sequences

Mutation Research - Reviews in Mutation Research

Volumn 658, Issue 1-2, 2008, Pages 95-110

  Lin, Kah Wai ^a   Yan, Ju ^b  

^a DANYLO HALYTSKY LVIV NATIONAL MEDICAL UNIVERSITY   (Ukraine)

^b UNIVERSITY OF SHERBROOKE   (Canada)

Author keywords

Chromosome rearrangement; DNA repair; Evolution; Genome instability; Interstitial telomere sequences (ITSs); Recombination; Telomere

Indexed keywords

CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME POLYMORPHISM; CHROMOSOME REARRANGEMENT; DNA REPAIR; DNA REPLICATION; DOUBLE STRANDED DNA BREAK; FLOW CYTOMETRY; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC LINKAGE; GENOMIC INSTABILITY; HUMAN; NONHUMAN; PRIORITY JOURNAL; REVIEW; RISK ASSESSMENT; SEQUENCE ANALYSIS; TELOMERE;

ANIMALS; BASE SEQUENCE; CHROMOSOME BREAKAGE; EVOLUTION, MOLECULAR; GENOMIC INSTABILITY; HUMANS; MOLECULAR SEQUENCE DATA; REPETITIVE SEQUENCES, NUCLEIC ACID; TELOMERE;

MAMMALIA;

EID: 38649118195     PISSN: 13835742     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mrrev.2007.08.006     Document Type: Review

References (163)

1. 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. U.S.A. 85 (1988) 6622-6626
2. Lejnine S., Makarov V.L., and Langmore J.P. Conserved nucleoprotein structure at the ends of vertebrate and invertebrate chromosomes. Proc. Natl. Acad. Sci. U.S.A. 92 (1995) 2393-2397
3. Wai L.K. Telomeres, telomerase, and tumorigenesis-a review. MedGenMed 6 (2004) 19
4. Greider C.W. Telomeres do D-loop-T-loop. Cell 97 (1999) 419-422
5. Griffith J.D., Comeau L., Rosenfield S., Stansel R.M., Bianchi A., Moss H., and de Lange T. Mammalian telomeres end in a large duplex loop. Cell 97 (1999) 503-514
6. Tommerup H., Dousmanis A., and de Lange T. Unusual chromatin in human telomeres. Mol. Cell Biol. 14 (1994) 5777-5785
7. Blasco M.A. Mammalian telomeres and telomerase: why they matter for cancer and aging. Eur. J. Cell Biol. 82 (2003) 441-446
8. Chan S.W., and Blackburn E.H. New ways not to make ends meet: telomerase, DNA damage proteins and heterochromatin. Oncogene 21 (2002) 553-563
9. Hackett J.A., and Greider C.W. Balancing instability: dual roles for telomerase and telomere dysfunction in tumorigenesis. Oncogene 21 (2002) 619-626
10. Greider C.W., and Blackburn E.H. Telomeres, telomerase and cancer. Sci. Am. 274 (1996) 92-97
11. Wong J.M., and Collins K. Telomere maintenance and disease. Lancet 362 (2003) 983-988
12. Belair C.D., Yeager T.R., Lopez P.M., and Reznikoff C.A. Telomerase activity: a biomarker of cell proliferation, not malignant transformation. Proc. Natl. Acad. Sci. U.S.A. 94 (1997) 13677-13682
13. MacKenzie K.L., Franco S., Naiyer A.J., May C., Sadelain M., Rafii S., and Moore M.A. Multiple stages of malignant transformation of human endothelial cells modelled by co-expression of telomerase reverse transcriptase, SV40 T antigen and oncogenic N-ras. Oncogene 21 (2002) 4200-4211
14. Shay J.W., and Wright W.E. Telomerase therapeutics for cancer: challenges and new directions. Nat. Rev. Drug Discov. 5 (2006) 577-584
15. Meyne J., Baker R.J., Hobart H.H., Hsu T.C., Ryder O.A., Ward O.G., Wiley J.E., Wurster-Hill D.H., Yates T.L., and Moyzis R.K. Distribution of non-telomeric sites of the (TTAGGG)n telomeric sequence in vertebrate chromosomes. Chromosoma 99 (1990) 3-10
16. 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. Nucleic Acids Res. 18 (1990) 3353-3361
17. Ruiz-Herrera A., Garcia F., Azzalin C., Giulotto E., Egozcue J., Ponsa M., and Garcia M. Distribution of intrachromosomal telomeric sequences (ITS) on Macaca fascicularis (Primates) chromosomes and their implication for chromosome evolution. Hum. Genet. 110 (2002) 578-586
18. 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. 78 (1997) 112-115
19. Hastie N.D., and Allshire R.C. Human telomeres: fusion and interstitial sites. Trends Genet. 5 (1989) 326-331
20. Wiley J.E., Meyne J., Little M.L., and Stout J.C. Interstitial hybridization sites of the (TTAGGG)n telomeric sequence on the chromosomes of some North American hylid frogs. Cytogenet. Cell Genet. 61 (1992) 55-57
21. Azzalin C.M., Nergadze S.G., and Giulotto E. Human intrachromosomal telomeric-like repeats: sequence organization and mechanisms of origin. Chromosoma 110 (2001) 75-82
22. Nergadze S.G., Rocchi M., Azzalin C.M., Mondello C., and Giulotto E. Insertion of telomeric repeats at intrachromosomal break sites during primate evolution. Genome Res. 14 (2004) 1704-1710
23. Bertoni L., Attolini C., Tessera L., Mucciolo E., and Giulotto E. Telomeric and nontelomeric (TTAGGG)n sequences in gene amplification and chromosome stability. Genomics 24 (1994) 53-62
24. Slijepcevic P., Xiao Y., Dominguez I., and Natarajan A.T. Spontaneous and radiation-induced chromosomal breakage at interstitial telomeric sites. Chromosoma 104 (1996) 596-604
25. 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. 21 (2001) 126-135
26. Glover T.W., and Stein C.K. Chromosome breakage and recombination at fragile sites. Am. J. Hum. Genet. 43 (1988) 265-273
27. Balajee A.S., Oh H.J., and Natarajan A.T. Analysis of restriction enzyme-induced chromosome aberrations in the interstitial telomeric repeat sequences of CHO and CHE cells by FISH. Mutat. Res. 307 (1994) 307-313
28. Tremousaygue D., Manevski A., Bardet C., Lescure N., and Lescure B. Plant interstitial telomere motifs participate in the control of gene expression in root meristems. Plant J. 20 (1999) 553-561
29. Rivero M.T., Mosquera A., Goyanes V., Slijepcevic P., and Fernandez J.L. Differences in repair profiles of interstitial telomeric sites between normal and DNA double-strand break repair deficient Chinese hamster cells. Exp. Cell Res. 295 (2004) 161-172
30. Krutilina R.I., Oei S., Buchlow G., Yau P.M., Zalensky A.O., Zalenskaya I.A., Bradbury E.M., and Tomilin N.V. A negative regulator of telomere-length protein trf1 is associated with interstitial (TTAGGG)n blocks in immortal Chinese hamster ovary cells. Biochem. Biophys. Res. Commun. 280 (2001) 471-475
31. Krutilina R.I., Smirnova A.N., Mudrak O.S., Pleskach N.M., Svetlova M.P., Oei S.L., Yau P.M., Bradbury E.M., Zalensky A.O., and Tomilin N.V. Protection of internal (TTAGGG)n repeats in Chinese hamster cells by telomeric protein TRF1. Oncogene 22 (2003) 6690-6698
32. Yan J., Bouchard E.F., Samassekou O., and Chen B.Z. Identification of a human chromosome-specific interstitial telomere-like sequence (ITS) at 22q11.2 using double-strand PRINS. Cytogenet. Genome Res. 116 (2007) 29-37
33. Kaplan J.C., Aurias A., Julier C., Prieur M., and Szajnert M.F. Human chromosome 22. J. Med. Genet. 24 (1987) 65-78
34. Dunham I., Shimizu N., Roe B.A., Chissoe S., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A., Bagguley C., Bailey J., Barlow K., Bates K.N., Beasley O., Bird C.P., Blakey S., Bridgeman A.M., Buck D., Burgess J., Burrill W.D., O'Brien K.P., et al. The DNA sequence of human chromosome 22. Nature 402 (1999) 489-495
35. Edelmann L., Pandita R.K., Spiteri E., Funke B., Goldberg R., Palanisamy N., Chaganti R.S., Magenis E., Shprintzen R.J., and Morrow B.E. A common molecular basis for rearrangement disorders on chromosome 22q11. Hum. Mol. Genet. 8 (1999) 1157-1167
36. Shaikh T.H., Kurahashi H., Saitta S.C., O'Hare A.M., Hu P., Roe B.A., Driscoll D.A., McDonald-McGinn D.M., Zackai E.H., Budarf M.L., and Emanuel B.S. Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. Hum. Mol. Genet. 9 (2000) 489-501
37. Saldanha S.N., Andrews L.G., and Tollefsbol T.O. Assessment of telomere length and factors that contribute to its stability. Eur. J. Biochem. 270 (2003) 389-403
38. Baird D.M. New developments in telomere length analysis. Exp. Gerontol. 40 (2005) 363-368
39. Fajkus J., Sykorova E., and Leitch A.R. Techniques in plant telomere biology. Biotechniques 38 (2005) 233-243
40. Lin K.W., and Yan J. The telomere length dynamic and methods of its assessment. J. Cell Mol. Med. 9 (2005) 977-989
41. Lansdorp P.M., Verwoerd N.P., van de Rijke F.M., Dragowska V., Little M.T., Dirks R.W., Raap A.K., and Tanke H.J. Heterogeneity in telomere length of human chromosomes. Hum. Mol. Genet. 5 (1996) 685-691
42. Katinka M.D., and Bourgain F.M. Interstitial telomeres are hotspots for illegitimate recombination with DNA molecules injected into the macronucleus of Paramecium primaurelia. EMBO J. 11 (1992) 725-732
43. Ashley T., and Ward D.C. A "hot spot" of recombination coincides with an interstitial telomeric sequence in the Armenian hamster. Cytogenet. Cell Genet. 62 (1993) 169-171
44. Fernandez J.L., Gosalvez J., and Goyanes V. High frequency of mutagen-induced chromatid exchanges at interstitial telomere-like DNA sequence blocks of Chinese hamster cells. Chromosome Res. 3 (1995) 281-284
45. Nanda I., Schrama D., Feichtinger W., Haaf T., Schartl M., and Schmid M. Distribution of telomeric (TTAGGG)(n) sequences in avian chromosomes. Chromosoma 111 (2002) 215-227
46. Bolzan A.D., and Bianchi M.S. Telomeres, interstitial telomeric repeat sequences, and chromosomal aberrations. Mutat. Res. 612 (2006) 189-214
47. Therkelsen A.J., Nielsen A., Koch J., Hindkjaer J., and Kolvraa S. Staining of human telomeres with primed in situ labeling (PRINS). Cytogenet. Cell Genet. 68 (1995) 115-118
48. Musio A., Rainaldi G., and Sbrana I. Spontaneous and aphidicolin-sensitive fragile site 3cen co-localizes with the (TTAGGG)n telomeric sequence in Chinese hamster cells. Cytogenet. Cell Genet. 75 (1996) 159-163
49. Lavoie J., Bronsard M., Lebel M., and Drouin R. Mouse telomere analysis using an optimized primed in situ (PRINS) labeling technique. Chromosoma 111 (2003) 438-444
50. Yan J., Chen B.Z., Bouchard E.F., and Drouin R. The labeling efficiency of human telomeres is increased by double-strand PRINS. Chromosoma 113 (2004) 204-209
51. Alvarez L., Evans J.W., Wilks R., Lucas J.N., Brown J.M., and Giaccia A.J. Chromosomal radiosensitivity at intrachromosomal telomeric sites. Genes Chromosomes Cancer 8 (1993) 8-14
52. 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 (1990) 699-704
53. Weber B., Allen L., Magenis R.E., Goodfellow P.J., Smith L., and Hayden M.R. Intrachromosomal location of the telomeric repeat (TTAGGG)n. Mamm. Genome 1 (1991) 211-216
54. Abuin M., Martinez P., and Sanchez L. Localization of the repetitive telomeric sequence (TTAGGG)n in four salmonid species. Genome 39 (1996) 1035-1038
55. Garrido-Ramos M.A., de la Herran R., Rejon C.R., and Rejon M.R. A satellite DNA of the Sparidae family (pisces, perciformes) associated with telomeric sequences. Cytogenet. Cell Genet. 83 (1998) 3-9
56. Perez J., Moran P., and Garcia-Vazquez E. Cloning and physical mapping of Atlantic salmon (Salmo salar L.) telomeric sequences. Heredity 82 Pt. 4 (1999) 409-414
57. Sola L., and Gornung E. Classical and molecular cytogenetics of the zebrafish, Danio rerio (Cyprinidae, Cypriniformes): an overview. Genetica 111 (2001) 397-412
58. 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. 10 (2002) 399-406
59. Chew J.S., Oliveira C., Wright J.M., and Dobson M.J. Molecular and cytogenetic analysis of the telomeric (TTAGGG)n repetitive sequences in the Nile tilapia, Oreochromis niloticus (Teleostei: Cichlidae). Chromosoma 111 (2002) 45-52
60. Uchida W., Matsunaga S., Sugiyama R., and Kawano S. Interstitial telomere-like repeats in the Arabidopsis thaliana genome. Genes Genet. Syst. 77 (2002) 63-67
61. Faravelli M., Moralli D., Bertoni L., Attolini C., Chernova O., Raimondi E., and Giulotto E. Two extended arrays of a satellite DNA sequence at the centromere and at the short-arm telomere of Chinese hamster chromosome 5. Cytogenet. Cell Genet. 83 (1998) 281-286
62. Ijdo J.W., Baldini A., Ward D.C., Reeders S.T., and Wells R.A. Origin of human chromosome 2: an ancestral telomere-telomere fusion. Proc. Natl. Acad. Sci. U.S.A. 88 (1991) 9051-9055
63. Vermeesch J.R., De Meurichy W., Van Den Berghe H., Marynen P., and Petit P. Differences in the distribution and nature of the interstitial telomeric (TTAGGG)n sequences in the chromosomes of the Giraffidae, okapai (Okapia johnstoni), and giraffe (Giraffa camelopardalis): evidence for ancestral telomeres at the okapi polymorphic rob(5;26) fusion site. Cytogenet. Cell Genet. 72 (1996) 310-315
64. Schlotterer C., and Tautz D. Slippage synthesis of simple sequence DNA. Nucleic Acids Res. 20 (1992) 211-215
65. Messier W., Li S.H., and Stewart C.B. The birth of microsatellites. Nature 381 (1996) 483
66. Mondello C., Pirzio L., Azzalin C.M., and Giulotto E. Instability of interstitial telomeric sequences in the human genome. Genomics 68 (2000) 111-117
67. Valerie K., and Povirk L.F. Regulation and mechanisms of mammalian double-strand break repair. Oncogene 22 (2003) 5792-5812
68. de Lange T. Shelterin: the protein complex that shapes and safeguards human telomeres. Genes Dev. 19 (2005) 2100-2110
69. Faravelli M., Azzalin C.M., Bertoni L., Chernova O., Attolini C., Mondello C., and Giulotto E. Molecular organization of internal telomeric sequences in Chinese hamster chromosomes. Gene 283 (2002) 11-16
70. Flint J., Craddock C.F., Villegas A., Bentley D.P., Williams H.J., Galanello R., Cao A., Wood W.G., Ayyub H., and Higgs D.R. Healing of broken human chromosomes by the addition of telomeric repeats. Am. J. Hum. Genet. 55 (1994) 505-512
71. Sprung C.N., Afshar G., Chavez E.A., Lansdorp P., Sabatier L., and Murnane J.P. Telomere instability in a human cancer cell line. Mutat. Res. 429 (1999) 209-223
72. Jeffreys A.J., Allen M.J., Armour J.A., Collick A., Dubrova Y., Fretwell N., Guram T., Jobling M., May C.A., Neil D.L., et al. Mutation processes at human minisatellites. Electrophoresis 16 (1995) 1577-1585
73. Metcalfe C.J., Eldridge M.D., McQuade L.R., and Johnston P.G. Mapping the distribution of the telomeric sequence (T2AG3)n in rock-wallabies, Petrogale (Marsupialia: Macropodidae), by fluorescence in situ hybridization. I. The penicillata complex. Cytogenet. Cell Genet. 78 (1997) 74-80
74. 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 bicolour. Chromosome Res. 6 (1998) 603-610
75. Yen C.H., Pazik J., and Elliott R.W. A polymorphic interstitial telomere array near the center of mouse chromosome 8. Mamm. Genome 7 (1996) 218-221
76. Yan J. Further confirmation of the polymorphism in a chromosome-specific interstitial telomere-like sequence (ITS) located at 22q11.2. The American Society of Human Genetics 56th annual meeting. New Orleans, LA, USA (2006)
77. Smith G.P. Evolution of repeated DNA sequences by unequal crossover. Science 191 (1976) 528-535
78. Charlesworth B., Sniegowski P., and Stephan W. The evolutionary dynamics of repetitive DNA in eukaryotes. Nature 371 (1994) 215-220
79. Weber J.L. Informativeness of human (dC-dA)n.(dG-dT)n polymorphisms. Genomics 7 (1990) 524-530
80. Heale S.M., and Petes T.D. The stabilization of repetitive tracts of DNA by variant repeats requires a functional DNA mismatch repair system. Cell 83 (1995) 539-545
81. Hearne C.M., Ghosh S., and Todd J.A. Microsatellites for linkage analysis of genetic traits. Trends Genet. 8 (1992) 288-294
82. Day J.P., Limoli C.L., and Morgan W.F. Recombination involving interstitial telomere repeat-like sequences promotes chromosomal instability in Chinese hamster cells. Carcinogenesis 19 (1998) 259-265
83. Galkina S., Lukina N., Zakharova K., and Rodionov A.V. Interstitial (TTAGGG)(n) sequences are not hot spots of recombination in the chicken lampbrush macrochromosomes 1-3. Chromosome Res. 13 (2005) 551-557
84. Simi S., Attolini C., and Giulotto E. Intrachromosomal telomeric repeats and stabilization of truncated chromosomes in V79 Chinese hamster cells. Mutat. Res. 397 (1998) 229-233
85. Simi S., Musio A., Vatteroni L., Piras A., and Rainaldi G. Specific chromosomal aberrations correlated to transformation in Chinese hamster cells. Cancer Genet. Cytogenet. 62 (1992) 81-87
86. Musio A., Marrella V., Sobacchi C., Rucci F., Fariselli L., Giliani S., Lanzi G., Notarangelo L.D., Delia D., Colombo R., Vezzoni P., and Villa A. Damaging-agent sensitivity of Artemis-deficient cell lines. Eur. J. Immunol. 35 (2005) 1250-1256
87. Musio A., Montagna C., Mariani T., Tilenni M., Focarelli M.L., Brait L., Indino E., Benedetti P.A., Chessa L., Albertini A., Ried T., and Vezzoni P. SMC1 involvement in fragile site expression. Hum. Mol. Genet. 14 (2005) 525-533
88. Hecht F., Ramesh K.H., and Lockwood D.H. A guide to fragile sites on human chromosomes. Cancer Genet. Cytogenet. 44 (1990) 37-45
89. Yu S., Mangelsdorf M., Hewett D., Hobson L., Baker E., Eyre H.J., Lapsys N., Le Paslier D., Doggett N.A., Sutherland G.R., and Richards R.I. Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeat. Cell 88 (1997) 367-374
90. Ijdo J., Baldini A., Wells R.A., Ward D.C., and Reeders S.T. FRA2B is distinct from inverted telomere repeat arrays at 2q13. Genomics 12 (1992) 833-835
91. Villa N., Dalpra L., and Larizza L. Expression of three rare fragile sites: chromosomal truncation, amplification of distal segment and telomeric renewal. Chromosoma 106 (1997) 400-404
92. Jordan R., Oroskar A., and Sedita B. Characterization of a potential radiation-sensitive fragile site. 26 Annual Environmental Mutagen Society Meeting. St. Louis, MO, USA (1995) 25
93. 2+-mediated fenton reactions has possible biological implications. J. Biol. Chem. 274 (1999) 962-971
94. Farr C., Fantes J., Goodfellow P., and Cooke H. Functional reintroduction of human telomeres into mammalian cells. Proc. Natl. Acad. Sci. U.S.A. 88 (1991) 7006-7010
95. Hanish J.P., Yanowitz J.L., and de Lange T. Stringent sequence requirements for the formation of human telomeres. Proc. Natl. Acad. Sci. U.S.A. 91 (1994) 8861-8865
96. Xu F., and Petes T.D. Fine-structure mapping of meiosis-specific double-strand DNA breaks at a recombination hotspot associated with an insertion of telomeric sequences upstream of the HIS4 locus in yeast. Genetics 143 (1996) 1115-1125
97. Fan Q.Q., Xu F., White M.A., and Petes T.D. Competition between adjacent meiotic recombination hotspots in the yeast Saccharomyces cerevisiae. Genetics 145 (1997) 661-670
98. Farr A., Nelson A., and Hosier S. Characterization of an antigenic determinant preferentially expressed by type I epithelial cells in the murine thymus. J. Histochem. Cytochem. 40 (1992) 651-664
99. Cooke H. Non-programmed and engineered chromosome breakage. In: Blackburn E., and Greider C. (Eds). Telomeres (1995), Cold Spring Harbor Laboratory Press, New York 219-245
100. Heller R., Brown K.E., Burgtorf C., and Brown W.R. Mini-chromosomes derived from the human Y chromosome by telomere directed chromosome breakage. Proc. Natl. Acad. Sci. U.S.A. 93 (1996) 7125-7130
101. Desmaze C., Pirzio L.M., Blaise R., Mondello C., Giulotto E., Murnane J.P., and Sabatier L. Interstitial telomeric repeats are not preferentially involved in radiation-induced chromosome aberrations in human cells. Cytogenet. Genome Res. 104 (2004) 123-130
102. Wilt S.R., Burgess A.C., Normolle D.P., Trent J.M., and Lawrence T.S. Use of fluorescence in situ hybridization (FISH) to study chromosomal damage induced by radiation and bromodeoxyuridine in human colon cancer cells. Int. J. Radiat. Oncol. Biol. Phys. 30 (1994) 861-866
103. Boei J.J., Vermeulen S., and Natarajan A.T. Differential involvement of chromosomes 1 and 4 in the formation of chromosomal aberrations in human lymphocytes after X-irradiation. Int. J. Radiat. Biol. 72 (1997) 139-145
104. Sundquist W.I., and Klug A. Telomeric DNA dimerizes by formation of guanine tetrads between hairpin loops. Nature 342 (1989) 825-829
105. Flint J., Bates G.P., Clark K., Dorman A., Willingham D., Roe B.A., Micklem G., Higgs D.R., and Louis E.J. Sequence comparison of human and yeast telomeres identifies structurally distinct subtelomeric domains. Hum. Mol. Genet. 6 (1997) 1305-1313
106. Wu T.C., and Lichten M. Meiosis-induced double-strand break sites determined by yeast chromatin structure. Science 263 (1994) 515-518
107. Balajee A.S., Dominguez I., Bohr V.A., and Natarajan A.T. Immunofluorescent analysis of the organization of telomeric DNA sequences and their involvement in chromosomal aberrations in hamster cells. Mutat. Res. 372 (1996) 163-172
108. Walsh C.P., Chaillet J.R., and Bestor T.H. Transcription of IAP endogenous retroviruses is constrained by cytosine methylation. Nat. Genet. 20 (1998) 116-117
109. Gaudet F., Hodgson J.G., Eden A., Jackson-Grusby L., Dausman J., Gray J.W., Leonhardt H., and Jaenisch R. Induction of tumors in mice by genomic hypomethylation. Science 300 (2003) 489-492
110. Esteller M., and Almouzni G. How epigenetics integrates nuclear functions. Workshop on epigenetics and chromatin: transcriptional regulation and beyond. EMBO Rep. 6 (2005) 624-628
111. Okano M., Xie S., and Li E. Cloning and characterization of a family of novel mammalian DNA (cytosine-5) methyltransferases. Nat. Genet. 19 (1998) 219-220
112. Okano M., Bell D.W., Haber D.A., and Li E. DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. Cell 99 (1999) 247-257
113. Peters A.H., O'Carroll D., Scherthan H., Mechtler K., Sauer S., Schofer C., Weipoltshammer K., Pagani M., Lachner M., Kohlmaier A., Opravil S., Doyle M., Sibilia M., and Jenuwein T. Loss of the Suv39h histone methyltransferases impairs mammalian heterochromatin and genome stability. Cell 107 (2001) 323-337
114. Garcia-Cao M., O'Sullivan R., Peters A.H., Jenuwein T., and Blasco M.A. Epigenetic regulation of telomere length in mammalian cells by the Suv39h1 and Suv39h2 histone methyltransferases. Nat. Genet. 36 (2004) 94-99
115. Steinert S., Shay J.W., and Wright W.E. Modification of subtelomeric DNA. Mol. Cell Biol. 24 (2004) 4571-4580
116. Gonzalo S., Garcia-Cao M., Fraga M.F., Schotta G., Peters A.H., Cotter S.E., Eguia R., Dean D.C., Esteller M., Jenuwein T., and Blasco M.A. Role of the RB1 family in stabilizing histone methylation at constitutive heterochromatin. Nat. Cell Biol. 7 (2005) 420-428
117. Gonzalo S., Jaco I., Fraga M.F., Chen T., Li E., Esteller M., and Blasco M.A. DNA methyltransferases control telomere length and telomere recombination in mammalian cells. Nat. Cell Biol. 8 (2006) 416-424
118. Benetti R., Garcia-Cao M., and Blasco M.A. Telomere length regulates the epigenetic status of mammalian telomeres and subtelomeres. Nat. Genet. 39 (2007) 243-250
119. Kourmouli N., Jeppesen P., Mahadevhaiah S., Burgoyne P., Wu R., Gilbert D.M., Bongiorni S., Prantera G., Fanti L., Pimpinelli S., Shi W., Fundele R., and Singh P.B. Heterochromatin and tri-methylated lysine 20 of histone H4 in animals. J. Cell Sci. 117 (2004) 2491-2501
120. Schotta G., Lachner M., Sarma K., Ebert A., Sengupta R., Reuter G., Reinberg D., and Jenuwein T. A silencing pathway to induce H3-K9 and H4-K20 trimethylation at constitutive heterochromatin. Genes Dev. 18 (2004) 1251-1262
121. Cho N.Y., Kim B.H., Choi M., Yoo E.J., Moon K.C., Cho Y.M., Kim D., and Kang G.H. Hypermethylation of CpG island loci and hypomethylation of LINE-1 and Alu repeats in prostate adenocarcinoma and their relationship to clinicopathological features. J. Pathol. 211 (2007) 269-277
122. Tangkijvanich P., Hourpai N., Rattanatanyong P., Wisedopas N., Mahachai V., and Mutirangura A. Serum LINE-1 hypomethylation as a potential prognostic marker for hepatocellular carcinoma. Clin. Chim. Acta 379 (2007) 127-133
123. Stavenhagen J.B., and Zakian V.A. Yeast telomeres exert a position effect on recombination between internal tracts of yeast telomeric DNA. Genes Dev. 12 (1998) 3044-3058
124. Tokutake Y., Matsumoto T., Watanabe T., Maeda S., Tahara H., Sakamoto S., Niida H., Sugimoto M., Ide T., and Furuichi Y. Extra-chromosomal telomere repeat DNA in telomerase-negative immortalized cell lines. Biochem. Biophys. Res. Commun. 247 (1998) 765-772
125. Mignon-Ravix C., Depetris D., Delobel B., Croquette M.F., and Mattei M.G. A human interstitial telomere associates in vivo with specific TRF2 and TIN2 proteins. Eur. J. Hum. Genet. 10 (2002) 107-112
126. Smirnova A., Krutilina R., and Tomilin N. Dynamic binding of the telomeric human protein TRF1 to intrachromosomal blocks (TTAGGG)n in living Chinese hamster cells depends on transcription. Mol. Biol. (Mosk) 39 (2005) 978-983
127. Svetlova M.P., Solovjeva L.V., Smirnova A.N., and Tomilin N.V. Long interstitial (TTAGGG)n arrays do not colocalize with repressive chromatin modifications in Chinese hamster cells. Cell Biol. Int. 31 (2007) 308-315
128. Mattern K.A., Swiggers S.J., Nigg A.L., Lowenberg B., Houtsmuller A.B., and Zijlmans J.M. Dynamics of protein binding to telomeres in living cells: implications for telomere structure and function. Mol. Cell Biol. 24 (2004) 5587-5594
129. Ye J.Z., Donigian J.R., van Overbeek M., Loayza D., Luo Y., Krutchinsky A.N., Chait B.T., and de Lange T. TIN2 binds TRF1 and TRF2 simultaneously and stabilizes the TRF2 complex on telomeres. J. Biol. Chem. 279 (2004) 47264-47271
130. Haber J.E. Partners and pathwaysrepairing a double-strand break. Trends Genet. 16 (2000) 259-264
131. Khanna K.K., and Jackson S.P. DNA double-strand breaks: signaling, repair and the cancer connection. Nat. Genet. 27 (2001) 247-254
132. Smogorzewska A., van Steensel B., Bianchi A., Oelmann S., Schaefer M.R., Schnapp G., and de Lange T. Control of human telomere length by TRF1 and TRF2. Mol. Cell Biol. 20 (2000) 1659-1668
133. Souza R.F., Appel R., Yin J., Wang S., Smolinski K.N., Abraham J.M., Zou T.T., Shi Y.Q., Lei J., Cottrell J., Cymes K., Biden K., Simms L., Leggett B., Lynch P.M., Frazier M., Powell S.M., Harpaz N., Sugimura H., Young J., and Meltzer S.J. Microsatellite instability in the insulin-like growth factor II receptor gene in gastrointestinal tumours. Nat. Genet. 14 (1996) 255-257
134. Duval A., and Hamelin R. Mutations at coding repeat sequences in mismatch repair-deficient human cancers: toward a new concept of target genes for instability. Cancer Res. 62 (2002) 2447-2454
135. Koh K.H., Kang H.J., Li L.S., Kim N.G., You K.T., Yang E., Kim H., Kim H.J., Yun C.O., and Kim K.S. Impaired nonhomologous end-joining in mismatch repair-deficient colon carcinomas. Lab. Invest. 85 (2005) 1130-1138
136. Wong H.P., Mozdarani H., Finnegan C., McIlrath J., Bryant P.E., and Slijepcevic P. Lack of spontaneous and radiation-induced chromosome breakage at interstitial telomeric sites in murine scid cells. Cytogenet. Genome Res. 104 (2004) 131-136
137. Boland C.R., Thibodeau S.N., Hamilton S.R., Sidransky D., Eshleman J.R., Burt R.W., Meltzer S.J., Rodriguez-Bigas M.A., Fodde R., Ranzani G.N., and Srivastava S. A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res. 58 (1998) 5248-5257
138. Slijepcevic P. Telomeres and mechanisms of Robertsonian fusion. Chromosoma 107 (1998) 136-140
139. Park V.M., Gustashaw K.M., and Wathen T.M. The presence of interstitial telomeric sequences in constitutional chromosome abnormalities. Am. J. Hum. Genet. 50 (1992) 914-923
140. Rossi E., Floridia G., Casali M., Danesino C., Chiumello G., Bernardi F., Magnani I., Papi L., Mura M., and Zuffardi O. Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences. J. Med. Genet. 30 (1993) 926-931
141. Pandita T.K., and DeRubeis D. Spontaneous amplification of interstitial telomeric bands in Chinese hamster ovary cells. Cytogenet. Cell Genet. 68 (1995) 95-101
142. Devriendt K., Petit P., Matthijs G., Vermeesch J.R., Holvoet M., De Muelenaere A., Marynen P., Cassiman J.J., and Fryns J.P. Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome. J. Med. Genet. 34 (1997) 395-399
143. Vermeesch J.R., Petit P., Speleman F., Devriendt K., Fryns J.P., and Marynen P. Interstitial telomeric sequences at the junction site of a jumping translocation. Hum. Genet. 99 (1997) 735-737
144. Boutouil M., Fetni R., Qu J., Dallaire L., Richer C.L., and Lemieux N. Fragile site and interstitial telomere repeat sequences at the fusion point of a de novo (Y;13) translocation. Hum. Genet. 98 (1996) 323-327
145. Cuthbert G., McCullough S., Finney R., Breese G., and Bown N. Jumping translocation at 11q23 with MLL gene rearrangement and interstitial telomeric sequences. Genes Chromosomes Cancer 24 (1999) 295-298
146. Kashima K., Nanashima A., Yasutake T., Sawai T., Tsuji T., Hidaka S., Akama F., Miyashita K., Tagawa Y., and Nagayasu T. Decrease of telomeres and increase of interstitial telomeric sites in chromosomes of short-term cultured gastric carcinoma cells detected by fluorescence in situ hybridization. Anticancer Res. 26 (2006) 2849-2855
147. Ma C., Martin S., Trask B., and Hamlin J.L. Sister chromatid fusion initiates amplification of the dihydrofolate reductase gene in Chinese hamster cells. Genes Dev. 7 (1993) 605-620
148. Looney J.E., and Hamlin J.L. Isolation of the amplified dihydrofolate reductase domain from methotrexate-resistant Chinese hamster ovary cells. Mol. Cell Biol. 7 (1987) 569-577
149. Windle B., Draper B.W., Yin Y.X., O'Gorman S., and Wahl G.M. A central role for chromosome breakage in gene amplification, deletion formation, and amplicon integration. Genes Dev. 5 (1991) 160-174
150. Putnam C.D., Pennaneach V., and Kolodner R.D. Chromosome healing through terminal deletions generated by de novo telomere additions in Saccharomyces cerevisiae. Proc. Natl. Acad. Sci. U.S.A. 101 (2004) 13262-13267
151. Pennaneach V., Putnam C.D., and Kolodner R.D. Chromosome healing by de novo telomere addition in Saccharomyces cerevisiae. Mol. Microbiol. 59 (2006) 1357-1368
152. Sprung C.N., Reynolds G.E., Jasin M., and Murnane J.P. Chromosome healing in mouse embryonic stem cells. Proc. Natl. Acad. Sci. U.S.A. 96 (1999) 6781-6786
153. Magnenat L., Tobler H., and Muller F. Developmentally regulated telomerase activity is correlated with chromosomal healing during chromatin diminution in Ascaris suum. Mol. Cell Biol. 19 (1999) 3457-3465
154. Wang H., and Blackburn E.H. De novo telomere addition by Tetrahymena telomerase in vitro. EMBO J. 16 (1997) 866-879
155. Chabchoub E., Rodriguez L., Galan E., Mansilla E., Martinez-Fernandez M.L., Martinez-Frias M.L., Fryns J.P., and Vermeesch J.R. Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation. J. Med. Genet. 44 (2007) 250-256
156. Barnett M.A., Buckle V.J., Evans E.P., Porter A.C., Rout D., Smith A.G., and Brown W.R. Telomere directed fragmentation of mammalian chromosomes. Nucleic Acids Res. 21 (1993) 27-36
157. Yu S., Pritchard M., Kremer E., Lynch M., Nancarrow J., Baker E., Holman K., Mulley J.C., Warren S.T., Schlessinger D., et al. Fragile X genotype characterized by an unstable region of DNA. Science 252 (1991) 1179-1181
158. Kramer K.M., and Haber J.E. New telomeres in yeast are initiated with a highly selected subset of TG1-3 repeats. Genes Dev. 7 (1993) 2345-2356
159. Jewett T., Marnane D., Stewart W., Hayworth-Hodge R., Finklea L., Klinepeter K., Rao P.N., and Pettenati M.J. Jumping translocation with partial duplications and triplications of chromosomes 7 and 15. Clin. Genet. 53 (1998) 415-420
160. Reddy K.S., and Murphy T. Fusion of 9 beta-satellite and telomere (TTAGGG)n sequences results in a jumping translocation. Hum. Genet. 107 (2000) 268-275
161. Schwartz S., Kumar A., Becker L.A., et al. Molecular and cytogenetic analysis of de novo "terminal" deletions: implications for mechanism of formation. Am. J. Hum. Genet. 61 Suppl. (1997) A7
162. Heilstedt H.A., Ballif B.C., Howard L.A., Lewis R.A., Stal S., Kashork C.D., Bacino C.A., Shapira S.K., and Shaffer L.G. Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am. J. Hum. Genet. 72 (2003) 1200-1212
163. Wong A.C., Ning Y., Flint J., Clark K., Dumanski J.P., Ledbetter D.H., and McDermid H.E. Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation. Am. J. Hum. Genet. 60 (1997) 113-120