The intrinsically unstable life of DNA triplet repeats associated with human hereditary disorders

Progress in Nucleic Acid Research and Molecular Biology

Volumn 66, Issue , 2000, Pages 159-202

  Bowater, Richard P ^a   Wells, Robert D ^b  

^a UNIVERSITY OF EAST ANGLIA   (United Kingdom)

^b EAST TEXAS MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MICROSATELLITE DNA;

DNA REPAIR; GENE CONVERSION; GENETIC DISORDER; GENETIC RECOMBINATION; GENETIC TRANSCRIPTION; GENETICS; HUMAN; REVIEW; TRINUCLEOTIDE REPEAT;

DNA REPAIR; GENE CONVERSION; GENETIC DISEASES, INBORN; HUMANS; MICROSATELLITE REPEATS; RECOMBINATION, GENETIC; TRANSCRIPTION, GENETIC; TRINUCLEOTIDE REPEAT EXPANSION; TRINUCLEOTIDE REPEATS;

EID: 0035201633     PISSN: 00796603     EISSN: None     Source Type: Book Series    
DOI: 10.1016/s0079-6603(00)66029-4     Document Type: Review

References (205)

1. J.M Hancock M.F Santibánez-Koref Trinucleotide expansion diseases in the context of micro- and minisatellite evolution EMBO J. 17 1998 5521
2. P Djian Evolution of simple repeats in DNA and their relation to human disease Cell 94 1998 155
3. A.R La Spada Repeat meeting's repeat performance Trends Genet. 15 1999 350
4. R.D Wells S.T Warren Genetic Instabilities and Hereditary Neurological Diseases 1998 Academic Press San Diego
5. B.A Oostra Trinucleotide Diseases and Instability 1998 Springer-Verlag
6. D Rubinsztein M Hayden Analysis of Triplet Repeat Disorders 1998 Human Molecular Genetics BIOS Scientific Publishers Ltd., Oxford
7. B Charlesworth P Sniegowski W Stephan The evolutionary dynamics of repetitive DNA in eucaryotes Nature 371 1994 215
8. E.R Moxon C Wills DNA microsatellites: agents of evolution? Scientific American January 1999 72
9. G.R Sutherland R.I Richards Simple tandem DNA repeats and human genetic disease 6th ed. Proc. Nail. Acad. Sci. USA 92 1995 3636
10. T.G Krontiris Minisatellites and human disease Science 269 1995 1682
11. R.I Richards G.R Sutherland Dynamic mutations: a new class of mutations causing human disease Cell 70 1992 709
12. D Tautz Schlötterer Simple sequences Curr. Opin. Genet. Dev. 4 1994 832
13. J.A Armour A.J Jeffreys Biology and applications of human minisatellite loci Curr. Opin. Genet. Dev. 2 1992 850
14. M.D Koob M.L Moseley L.J Schut K.A Benzow T.D Bird J.W Day L.P.W Ranum An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) Nature Genet. 21 1999 379
15. C.T McMurray DNA secondary structure: a common and causative factor for expansion in human disease 6th ed. Proc. Nail. Acad. Sci. USA 96 1999 1823
16. Y Kashi D King M Soller Simple sequence repeats as a source of quantitative genetic variation Trends Genet. 13 1997 74
17. R Koide S Kobayashi T Shimohata T Ikeuchi M Maruyama M Saito M Yamada H Takahashi S Tsuji A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? Hum. Mol. Genet. 8 1999 2047
18. R.R Sinden Biological implications of the DNA structures associated with disease-causing triplet repeats Am. J. Hum. Genet. 64 1999 346
19. C.E Pearson R.R Sinden Trinucleotide repeat DNA structures: dynamic mutations from dynamic DNA Curr. Opin. Struct. Biel 8 1998 321
20. H.L Paulson K.H Fischbeck Trinucleotide repeats in neurogenetic disorders Annu. Rev. Neurosci. 19 1996 79
21. C Jones L Penny T Mattina S Yu E Baker L Voullaire W.Y Langdon G.R Sutherland R.I Richards A Tunnacliffe Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2 Nature 376 1995 145
22. M Duyao C Ambrose R Myers A Novelletto F Persichetti M Frontali S Folstein C Ross M Franz M Abbott J Gray P Conneally A Young J Penney Z Hollingsworth I Shoulson A Lazzarini A Falek W Koroshetz D Sax E Bird J Vonsattel E Bonilla J Alvir J Bickham-Conde J.-H Cha L Dure F Gomez M Ramos J Sanchez-Ramos S Snodgrass M de Young N Wexler C Moscowitz G Penchaszadeh H MacFarlane M Anderson B Jenkins J Srinidhi G Barnes J Gusella M MacDonald Trinucleotide repeat length instability and age of onset in Huntington's disease Nature Genet. 4 1993 387
23. H Telenius B Kremer Y.P Goldberg J Theilmann S.E Andrew J Zeisler S Adam C Greenberg E.J Ives L.A Clarke M.R Hayden Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm Nature Genet. 6 1994 409
24. D.G Monckton L.J Wong T Ashizawa C.T Caskey Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses Hum. Mol. Genet. 4 1995 1
25. M.D Lalioti H.S Scott C Buresi C Bossier A Bottani M.A Morris A Malafosse S.E Antonarakis Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy Nature 386 1997 847
26. R.G Lafreniere D.L Rochefort N Chretien J.M Rommens J.I Cochius R Kalviainen U Nousiainen G Patry K Farrell B Soderfeldt A Federico B.R Hale O.H Cossio T Sorensen M.A Pouliot T Kmiec P Uldall J Janszky M.R Pranzatelli F Andermann E Andermann G.A Rouleau Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1 Nature Genet. 15 1997 298
27. M.D Lalioti H.S Scott S.E Antonarakis Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1 Hum. Mol. Genet. 8 1999 1791
28. G.P Larson S Ding R.G Lafreniere G.A Rouleau T.G Krontiris Instability of the EPM1 minisatellite Hum. Mol. Genet. 8 1999 1985
29. M.D Lalioti M Mirotsou C Buresi M.C Peitsch C Rossier R Ouazzani M Baldy-Moulinier A Bottani A Malafosse S.E Antonarakis Identification of mutations in Cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy EPM1 Am. J. Hum. Genet. 60 1997 342
30. M.G McInnis Anticipation: an old idea in new genes Am. J. Hum. Genet. 59 1996 973
31. A.D Paterson D.M.J Naimark J.B Vincent J.L Kennedy A Petronis R.D Wells S.T Warren Genetic Instabilities and Hereditary Neurological Diseases 1998 Academic Press New York 413
32. M Schalling T.J Hudson K.H Buetow D.E Housman Direct detection of novel expanded trinucleotide repeats in the human genome Nature Genet. 4 1993 135
33. K Sanpei H Takano S Igarashi T Sato M Oyake H Sasaki A Wakisaka K Tashiro Y Ishida T Ikeuchi R Koide M Saito A Sato T Tanaka S Hanyu Y Takiyama M Nishizawa N Shimizu Y Nomura M Segawa K Iwabuchi I Eguchi H Tanaka H Takahashi S Tsuji Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT Nature Genet. 14 1996 277
34. Y Trottier Y Lutz G Stevanin G Imbert D Devys G Cancel F Saudou C Weber G David L Tora Y Agid A Brice J.-L Mandel Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias Nature 378 1995 403
35. B Brais J.P Bouchard Y.G Xie D.L Rochefort N Chretien F.M Tome R.G Lafreniere J.M Rommens E Uyama O Nohira S Blumen A.D Korczyn P Heutink J Mathieu A Duranceau F Codere M Fardeau G.A Rouleau A.D Korcyn Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy Nature Genet. 18 1998 164
36. E Delot L.M King M.D Briggs W.R Wilcox D.H Cohn Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene Hum. Mol. Genet. 8 1999 123
37. S Yu M Mangelsdorf D Hewett L Hobson E Baker H.J Eyre N Lapsys D Le Paslier N.A Doggett G.R Sutherland R.I Richards Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeat Cell 88 1997 367
38. M Nakamoto H Takebayashi Y Kawaguchi S Narumiya M Taniwaki Y Nakamura Y Ishikawa I Akiguchi J Kimura A Kakizuka A CAG/CTG expansion in the normal population Nature Genet 17 1997 385
39. T Ikeuchi K Sanpei H Takano H Sasaki K Tashiro G Cancel A Brice T.D Bird G.D Schellenberg M.A Pericak-Vance K.A Welsh-Bohmer L.N Clark K Wilhelmsen S Tsuji A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q Genomics 49 1998 321
40. T.S Breschel M.G McInnis R.L Margolis G Sirugo B Corneliussen S.G Simpson F.J McMahon D.F MacKinnon J.F Xu N Pleasant Y Huo R.G Ashworth C Grundstrom T Grundstrom K.K Kidd J.R DePaulo C.A Ross A novel, heritable, expanding CTG repeat in an intron of the SEF2-1 gene on chromosome 18q21.1 Hum. Mol. Genet. 6 1997 1855
41. J Hardy K Gwinn-Hardy Genetic classification of primary neurodegenerative disease Science 282 1998 1075
42. D.L Price S.S Sisodia D.R Borchelt Genetic neurodegenerative diseases: the human illness and transgenic models Science 282 1998 1079
43. L.T Timchenko C.T Caskey Trinucleotide repeat disorders in humans: discussions of mechanisms and medical issues FASEB J. 10 1996 1589
44. S Harris C Moncrieff K Johnson Myotonic dystrophy: will the real gene please step forward! Hum. Mol. Genet. 5 1996 1417
45. P.S Reddy D.E Housman The complex pathology of trinucleotide repeats Curr. Opin. Cell Biol. 9 1997 364
46. J.B Martin Molecular basis of the neurodegenerative disorders N. Engl. J. Med. 340 1999 1970
47. S.S Sisodia Nuclear inclusions in glutamine repeat disorders: are they pernicious, coincidental, or beneficial? Cell 95 1999 1
48. H.Y Zoghbi The expanding world of ataxins Nature Genet. 14 1996 237
49. A Kazizuka Protein precipitation: a common etiology in neuro-degenerative disorders? Trends Genet. 14 1998 396
50. E.N Burright H.B Clark A Servadio T Matilla R.M Feddersen W.S Yunis L.A Duvick H.Y Zoghbi H.T Orr SCAT transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat Cell 82 1995 937
51. H Ikeda M Yamaguchi S Sugai Y Aze S Narumiya A Kakizuka Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo Nature Genet. 13 1996 196
52. P.M Bingham M.O Scott S Wang M.J McPhaul E.M Wilson J.Y Garbern D.E Merry K.H Fischbeck Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice Nature Genet. 9 1995 191
53. Dutch-Belgian Fragile X Consortium, Fmrl knockout mice: a model to study Fragile X mental retardation Cell 78 1994 23
54. M.P Duyao A.B Auerbach A Ryan F Persichetti G.T Barnes S.M McNeil P Ge J.-P Vonsattel J.F Gusella A.L Joyner M.E MacDonald Inactivation of the mouse Huntington's disease gene homologue Hdh Science 269 1995 407
55. J Nasir S.B Floresco J.R O'Kusky V.M Diewert J.M Richman J Zeisler A Borowski J.D Marth A.G Phillips M.R Hayden Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes Cell 81 1995 811
56. S Zeitlin J.P Liu D.L Chapman V.E Papaioannou A Efstratiadis Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue Nature Genet. 11 1995 155
57. V.O Ona M Li J.-P.G Vonsattel L.J Andrews S.Q Khan W.M Chung A.S Frey A.S Menon X.-J Li P.E Stieg J Yuan J.B Penney A.B Young J.-H.J Cha R.M Friedlander Inhibition of caspase-1 slows disease progression in a mouse model of Huntington's disease Nature 399 1999 263
58. H.Y Zoghbi H.T Orr Polyglutamine diseases: protein cleavage and aggregation Curr. Opin. Neurobiol. 9 1999 566
59. L Mangiarini K Sathasivam M Seller B Cozens A Harper C Hetheringthon M Lawton Y Trottier H Lehrach S.W Davies G.P Bates Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice Cell 87 1996 493
60. A Lunkes J.-L Mandel A cellular model that recapitulates major pathogenic steps of Huntington's disease Hum. Mol. Genet. 7 1998 1355
61. F Saudou S Finkbeiner D Devys M.E Greenberg Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions Cell 95 1998 55
62. M.F Perutz Glutamine repeats and neurodegenerative diseases: molecular aspects Trends Biochena. Sci. 24 1999 58
63. C.J Cummings M.A Mancini B Antalffy D.B DeFranco H.T Orr H.Y Zoghbi Chaperone suppression of aggregation and altered subcellular proteasome localisation imply protein misfolding in SCAT Nature Genet. 19 1998 148
64. A Kazantsev E Preisinger A Dranovsky D Goldgaber D Housman Insoluble detergent-resistant aggregates form between pathological and nonpathological lengths of polyglutamine in mammalian cells 6th ed. Proc. Natl. Acad. Sci. USA 96 1999 11404
65. I.A Klement P.J Skinner M.D Kaytor H Yi S.M Hersch H.B Clark H.Y Zoghbi H.T Orr Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice Cell 95 1998 41
66. C.A Ross J.D Wood G Schilling M.F Peters F.C Nucifora Jr. J.K Cooper A.H Sharp R.L Margolis D.R Borchelt Polyglutamine pathogenesis Phil. Trans. Roy. Soc. Lond. Series B Biol. Sci. 354 1999 1005
67. M.F Perutz Glutamine repeats and inherited neurodegenerative diseases: molecular aspects Curr. Opin. Struct. Biol. 6 1996 848
68. X.-J Li S.-H Li A.H Sharp F.C Nucifora Jr. G Schilling A Lanahan P Worley S.H Snyder C.A Ross A huntingtin-associated protein enriched in brain with implications for pathology Nature 378 1995 389
69. n in the human FMRI gene J. Biol. Chem. 271 1996 4327
70. E.E Wanker C Rovira E Scherzinger R Hasenbank S Walter D Tait J Colicelli H Lehrach HIP-I: a huntingtin interacting protein isolated by the yeast two-hybrid system Hum. Mol. Gen. 6 1997 487
71. M.A Kalchman H.B Koide K McCutcheon R.K Graham K Nichol K Nishiyama P Kazemi-Esfarjani F.C Lynn C Wellington M Metzler Y.P Goldberg I Kanazawa R.D Gietz M.R Hayden HIP1 , a human homologue of S. cerevisiae Sla2p , interacts with membrane-associated huntingtin in the brain Nature Genet. 16 1997 44
72. J.R Burke J.J Enghild M.E Martin Y.S Jou R.M Myers A.D Roses J.M Vance W.J Strittmatter Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH Nature Med. 2 1996 347
73. A Matilla B.T Koshy C.J Cummings H.T Orr H.Y Zoghbi The cerebellar leucinerich acidic nuclear protein interacts with ataxin-1 Nature 389 1997 974
74. Y.P Goldberg D.W Nicholson D.M Rasper M.A Kalchman H.B Koide R.K Graham M Bromm P Kazemi-Esfarjani N.A Thornberry J.P Vaillancourt M.R Hayden Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract Nature Genet. 13 1996 442
75. C.L Wellington L.M Ellerby A.S Hackam R.L Margolis M.A Trifiro R Singaraja K McCutcheon G.S Salvesen S.S Propp M Bromm K.J Rowland T Zhang D Rasper S Roy N Thornberry L Pinsky A Kakizuka C.A Ross D.W Nicholson D.E Bredesen M.R Hayden Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tract J. Biol. Chem. 273 1998 9158
76. L Lorand Neurodegenerative diseases and transglutaminase 6th ed. Proc. Natl. Acad. Sci. USA 93 1996 14310
77. P Kahlem H Green P Djian Transglutaminase action imitates Huntington's disease: selective polymerisation of Huntingtin containing expanded polyglutamine Mol. Cell 1 1998 595
78. M.V Karpuj H Garren H Slunt D.L Price J Gusella M.W Becher L Steinman Transglutaminase aggregates huntingtin into nonamyloidogenic polymers, and its enzymatic activity increases in Huntington's disease brain nuclei 6th ed. Proc. Natl. Acad. Set. USA 96 1999 7388
79. S.T Warren C.T Ashley Triplet repeat expansion mutations: the example of fragile X syndrome Annu. Rev. Neurosci. 18 1995 77
80. S.J Knight A.V Flannery M.C Hirst L Campbell Z Christodoulou S.R Phelps J Pointon H.R Middleton-Price A Barnicoat M.E Pembrey Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation Cell 74 1993 127
81. S.J Tapscott T.R Klesert R.J Widrow R Steger C.D Laird Fragile-X syndrome and myotonic dystrophy: parallels and paradoxes Curr. Opin. Genet. Der. 8 1998 245
82. P Groenen B Wieringa Expanding complexity in myotonic dystrophy Bioessays 20 1998 901
83. L.T Timchenko Myotonic dystrophy: the role of RNA CUG triplet repeats Am. J. Hum. Genet. 64 1999 360
84. V Campuzano L Montermini Y Lutz L Cova C Hindelang S Jiralerspong Y Trottier S.J Kish B Faucheux P Trouillas F.J Authier A Durr J.L Mandel A Vescovi M Pandolfo M Koenig Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes 6th ed. Hum. Mol. Genet. 6 1997 1771
85. L Montermini E Andermann M Labuda A Richter M Pandolfo F Cavalcanti L Pianese L Iodice G Farina A Monticelli M Turano A Filla G De Michele S Cocozza The Friedreich ataxia GAA triplet repeat: premutation and normal alleles Hum. Mol. Genet. 6 1997 1261
86. M Koenigand J.L Mandel Deciphering the cause of Friedreich ataxia Curr. Opin. Neurobiol. 7 1997 689
87. M Pandolfo M Koenig R.D Wells S.T Warren Genetic Instabilities and Hereditary Neurological Diseases 1998 Academic Press New York 373
88. J Kaplan Friedreich's ataxia is a mitochondrial disorder 6th ed. Proc. Natl. Acad. Sci. USA 96 1999 10948
89. V Campuzano L Montermini M.D Moltò L Pianese M Cossée F Cavalcanti E Monros F Rodius F Duclos A Monticelli F Zara J Canizares H Koutnikova S.I Bidichandani C Gellera A Brice P Trouillas G de Michele A Filla R de Frutos F Palau P.I Patel S di Donato J.-L Mandel S Cocozza M Koenig M Pandolfo Friedreich's Ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion Science 271 1996 1423
90. A Filla G De Michele F Cavalcanti L Pianese A Monticelli G Campanella S Cocozza The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreieh ataxia Am. J. Hum. Genet. 59 1996 554
91. A Durr M Cossee Y Agid V Campuzano C Mignard C Penet J.L Mandel A Brice M Koenig Clinical and genetic abnormalities in patients with Friedreich's ataxia N. Engl. J. Med. 335 1996 1169
92. L Montermini A Richter K Morgan C.M Justice D Julien B Castellotti J Mercier J Poirier F Capozzoli J.P Bouchard B Lemieux J Mathieu M Vanasse M.H Seni G Graham F Andermann E Andermann S.B Melancon B.J Keats S Di Donato M Pandolfo Phenotypic variability in Friedreieh ataxia: role of the associated GAA triplet repeat expansion Ann. Neurol. 41 1997 675
93. M Babcock D de Silva R Oaks S Davis-Kaplan S Jiralerspong L Montermini M Pandolfo J Kaplan Regulation of mitochondrial iron accumulation by Yfhlp, a putative homolog of frataxin Science 276 1997 1709
94. H Koutnikova V Campuzano F Foury P Dolle O Cazzalini M Koenig Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin Nature Genet. 16 1997 345
95. S.I Bidichandani T Ashizawa P.I Patel The GAA triplet-repeat expansion in Friedreieh ataxia interferes with transcription and may be associated with an unusual DNA structure Am. J. Hum. Genet. 62 1998 111
96. K Ohshima L Montermini R.D Wells M Pandolfo Inhibitory effects of expanded GAA.TTC triplet repeats from intron I of the Friedreich's Ataxia gene on transcription and replication in vivo J. Biol. Chem. 273 1998 14588
97. J.P Jakupciak R.D Wells Genetic instabilities in (CTG · CAG) repeats occur by recombination J. Biol. Chem. 274 1999 23468
98. R.P Bowater A Jaworski J.E Larson P Parniewski R.D Wells Transcription increases the deletion frequency of long CTG·CAG triplet repeats from plasmids in Escherichia coli Nucl. Acids Res. 25 1997 2861
99. P.S Sarkar H.-C Chang F.B Boudi S Reddy CTG repeats show bimodal amplification in E. coli Cell 95 1998 531
100. R.D Wells Molecular basis of genetic instability of triplet repeats J. Biol. Chem. 271 1996 2875
101. R.D Wells E Ohtsuka H.G Khorana Studies on polynucleotides. L. Synthetic deoxyribopolynucleotides as templates for the DNA polymerase of Escherichia coli : a new double-stranded DNA-like polymer containing repeating dinucleotide sequences J. Mol. Biol. 14 1965 221
102. G Streisinger J Owen Mechanisms of spontaneous and induced frameshift mutation in bacteriophage T4 Genetics 109 1985 633
103. C Schlötterer D Tautz Slippage synthesis of simple sequence DNA Nucl. Acids Res. 20 1992 211
104. J Petruska M.J Hartenstine M.F Goodman Analysis of strand slippage in DNA polymerase expansions of CAG/CTG triplet repeats associated with neurodegenerative diseases J. Biol. Chem. 273 1998 5204
105. J Ji N.J Clegg K.R Peterson A.L Jackson C.D Laird L.A Loeb in vitro expansion of GGC:GCC repeats: identification of the preferred strand of expansion Nucl. Acids Res. 24 1996 2835
106. T Lyons-Darden M.D Topal Abasic sites induce triplet-repeat expansion during DNA replication in vitro J. Biol. Chem. 274 1999 25975
107. 2+ concentration and mismatches on triplet-repeat expansion during DNA replication in vitro Nucl. Acids Res. 27 1999 2235
108. R.I Richards G.R Sutherland Simple repeat DNA is not replicated simply Nature Genet. 6 1994 114
109. L.C Kroutil T.A Kunkel Deletion errors generated during replication of CAG repeats Nucl. Acids Res. 27 1999 3481
110. S.M Kang K Ohshima M Shimizu S Amirhaeri R.D Wells Pausing of DNA synthesis in vitro at specific loci in CTG and CGG triplet repeats from human hereditary disease genes J. Biol. Chem. 270 1995 27014
111. K Ohshima R.D Wells Hairpin formation during DNA synthesis primer realignment in vitro in triplet repeat sequences from human hereditary disease genes J. Biol. Chem. 272 1997 16798
112. A.M Gacy G.M Goellner C Spiro X Chen G Gupta E.M Bradbury R.B Dyer M.J Mikesell J.Z Yao A.J Johnson A Richter S.B Melancon C.T McMurray GAA instability in Friedreich's ataxia shares a common, DNA-directed and intraallelic mechanism with other trinucleotide diseases Mol. Cell 1 1998 583
113. K Usdin K.J Woodford CGG repeats associated with DNA instability and chromosome fragility form structures that block DNA synthesis in vitro Nucl. Acids Res. 23 1995 4202
114. K Ohshima S Kang J.E Larson R.D Wells Cloning, characterisation, and properties of seven triplet repeat DNA sequences J. Biol. Chem. 271 1996 16773
115. M Mitas Trinucleotide repeats associated with human disease Nucl. Acids Res. 25 1997 2245
116. S Kang A Jaworski K Ohshima R.D Wells Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E. coli Nature Genet. 10 1995 213
117. M Shimizu R Gellibolian B.A Oostra R.D Wells Cloning, characterisation and properties of plasmids containing CGG triplet repeats from the FMR-1 gene J. Mot. Biol. 258 1996 614
118. M.C Hirst P.J White Cloned human FMR1 trinucleotide repeats exhibit a length and orientation-dependent instability suggestive of in vivo lagging strand secondary structure Nucl. Acids Res. 26 1998 2353
119. D.J Maurer B O'Callaghan D.M Livingston Orientation dependence of trinucleotide CAG repeat instability in Saccharomyces cerevisiae Mol. Cell. Biol. 16 1996 6617
120. J.K Schweitzer D.M Livingston Destabilization of CAG trinucleotide repeat tracts by mismatch repair mutations in yeast Hum. Mot. Gen. 6 1997 349
121. C.H Freudenreich J.B Stavenhagen V.A Zakian Stability of a CTG/CAG trinucleotide repeat in yeast is dependent on its orientation in the genome Mol. Cell. Biol. 17 1997 2090
122. P.J White R.H Borts M.C Hirst Stability of the human fragile X (CGG), triplet repeat array in Saccharomyces cerevisiae deficient in aspects of DNA metabolism Mol. Cell. Biol. 19 1999 5675
123. B.S Balakumaran C.H Freudenreich V.A Zakian CGG/CCG repeats exhibit orientation dependent instability and orientation independent fragility in Saccharomyces cerevisiae Hum. Mot. Genet. 9 2000 93
124. J.J Miret L Pessoa-Brandao R.S Lahue Orientation-dependent and sequence-specific expansions of CTG/CAG trinucleotide repeats in Saccharomyces cerevisiae 6th ed. Proc. Natl. Acad. Sci. USA 95 1998 12438
125. J.J Miret L Pessoa-Brandão R.S Lahue Instability of CAG and CTG trinucleotide repeats in Saccharomyces cerevisiae Mol. Cell. Biol. 17 1997 3382
126. D.J Maurer B.L O'Callaghan D.M Livingston Mapping the polarity of changes that occur in interrupted CAG repeat tracts in yeast Mol. Cell. Biol. 18 1998 4597
127. S Kang K Ohshima A Jaworski R.D Wells CTG triplet repeats from the myotonic dystrophy gene are expanded in Escherichia coli distal to the replication origin as a single large event J. Mol. Biol. 258 1996 543
128. W.A Rosche A Jaworski S Kang S.F Kramer J.E Larson D.P Giedroc R.D Wells R.R Sinden Single-stranded DNA-binding protein enhances the stability of CTG triplet repeats in Escherichia coli J. Bacteriol. 178 1996 5042
129. R.R Iyer R.D Wells Expansion and deletion of triplet repeat sequences in Escherichia coli occur on the leading strand of DNA replication J. Biol. Chem. 274 1999 3865
130. R.P Bowater W.A Rosche A Jaworski R.R Sinden R.D Wells Relationship between Escherichia coli growth and deletions of CTG·CAG triplet repeats from human neuromuscular disease genes in plasmids J. Mol. Biol. 264 1996 82
131. J.K Schweitzer D.M Livingston Expansions of CAG repeat tracts are frequent in a yeast mutant defective in Okazaki fragment maturation Hum. Mol. Genet. 7 1998 69
132. C.H Freudenreich S.M Kantrow V.A Zakian Expansion and length-dependent fragility of CTG repeats in yeast Science 279 1998 853
133. C Spiro R Pelletier M.L Rolfsmeier M.J Dixon R.S Lahue G Gupta M.S Park X Chen S.V.S Mariappan C.T McMurray Inhibition of FEN-1 processing by DNA secondary structure at trinucleotide repeats Mol. Cell 4 2000 1079
134. P Morel C Reverdy B Michel S.D Ehrlich E Cassuto The role of SOS and flap processing in microsatellite instability in Escherichia coli 6th ed. Proc. Natl. Acad. Sci. USA 95 1998 10003
135. D.A Gordenin T.A Kunkel M.A Resnick Repeat expansion-all in a flap? Nature Genet. 16 1997 116
136. R.R Iyer A Pluciennik W.A Rosche R.R Sinden R.D Wells DNA polymerase III proofreading mutants enhance the expansion and deletion of triplet repeat sequences in Escherichia coli J. Biol. Chem. 275 2000 2174
137. G.M Samadashwily G Raca S.M Mirkin Trinucleotide repeats affect DNA replication in vivo Nature Genet. 17 1997 298
138. M Krasilnikova G.M Samadashwily A.S Krasilnikov S.M Mirkin Transcription through a simple DNA repeat blocks replication elongation EMBO J. 17 1998 5095
139. D.A Gordenin M.A Resnick Yeast ARMS (DNA at-risk motifs) can reveal sources of genome instability Mutat. Res. 400 1998 45
140. X Bi L.F Liu A replicational model for DNA recombination between direct repeats J. Mol. Biol. 256 1996 849
141. J.R Lupski Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits Trends Genet. 14 1998 417
142. A Kuzminov Collapse and repair of replication forks in Escherichia coli Mol. Microbiol. 16 1995 373
143. R.R Sinden R.D Wells DNA structure, mutations, and human genetic disease Curr Opin. Biotechnol. 3 1992 612
144. X Bi L.F Liu DNA rearrangement mediated by inverted repeats Proc. Natl. Acad. Sci. USA 93 1996 819
145. n triplet repeats from human hereditary diseases 6th ed. Proc. Natl. Acad. Set. USA 92 1995 11019
146. A Segal Morag C.J Saveson S.T Lovett Expansion of DNA repeats in Escherichia coli : effects of recombination and replication functions J. Mol. Biol. 289 1999 21
147. E.A Sia S Jinks-Robertson T.D Petes Genetic control of microsatellite stability Mutat. Res. 383 1997 61
148. A Kuzminov Instability of inhibited replication forks in E. coli Bioessays 17 1995 733
149. E.C Friedberg G.C Walker W Siede DNA repair and Mutagenesis 1995 American Society for Microbiology Washington, D.C
150. T Lindahl P Karran R.D Wood DNA excision repair pathways Curr. Opin. Genet. Dev. 7 1997 158
151. A Sancar DNA excision repair Annu. Rev. Biochem. 65 1996 43
152. R.D Wood Nucleotide excision repair in mammalian cells J. Biol. Chem. 272 1997 23465
153. P.C Hanawalt Transcription-coupled repair and human disease Science 266 1994 1957
154. A Sancar Mechanisms of DNA excision repair Science 266 1994 1954
155. P Parniewski A Bacolla A Jaworski R.D Wells Nucleotide excision repair affects the stability of long transcribed (CTG·CAG) tracts in an orientation dependent manner in Escherichia coli Nucl. Acids Res. 27 1999 616
156. P Modrich Strand-specific mismatch repair in mammalian cells J. Biol. Chem. 272 1997 24727
157. P Modrich R Lahue Mismatch repair in replication fidelity, genetic recombination and cancer biology Annu. Rev. Biochem. 65 1996 101
158. T.A Prolla DNA mismatch repair and cancer Curr. Opin. Cell Biol. 10 1998 311
159. A Umar T.A Kunkel DNA-replication fidelity, mismatch repair and genome instability in cancer cells Eur J. Biochem. 238 1996 297
160. C.E Pearson A Ewel S Acharya R.A Fishel R.R Sinden Human MSH2 binds to trinucleotide repeat DNA structures associated with neurodegenerative diseases Hum. Mol. Gen. 6 1997 1117
161. G.M Goellner D Tester S Thibodeau E Almqvist Y.P Goldberg M.R Hayden C.T McMurray Different mechanisms underlie DNA instability in Huntington disease and colorectal cancer Am. J. Hum. Genet. 60 1997 879
162. P.R Kramer C.E Pearson R.R Sinden Stability of triplet repeats of myotonic dystrophy and Fragile X loci in human mutator mismatch repair cell lines Hum. Genet. 98 1996 151
163. S Schumacher R.P.P Fuchs M Bichara Expansion of CTG repeats from human disease genes is dependent upon replication mechanisms in Escherichia coli : the effect of long patch mismatch repair revisited J. Mol. Biol. 279 1998 1101
164. R.D Wells P Pamiewski A Pluciennik A Bacolla R Gellibolian A Jaworski Small slipped register genetic instabilities in Escherichia coli in triplet repeat sequences associated with hereditary neurological diseases J. Biol. Chem. 273 1998 19532
165. P Modrich Mismatch repair, genetic stability, and cancer Science 266 1994 1959
166. E.C Friedberg V.L Gerlach Novel DNA polymerases offer clues to the molecular basis of mutagenesis Cell 98 1999 413
167. J.C Connelly L.A Kirkham D.R.F Leach The SbcCD nuclease of Escherichia coli is a structural maintenance of chromosomes (SMC) family protein that cleaves hairpin DNA 6th ed. Proc. Nail. Acad. Sci. USA 95 1998 7969
168. R.P Bowater D Chen D.M.J Lilley Elevated unconstrained supercoiling of plasmid DNA generated by transcription and translation of the tetracycline resistance gene in eubacteria Biochemistry 33 1994 9266
169. M.A Parsons R.R Sinden M.G Izban Transcriptional properties of RNA polymerase II within triplet repeat-containing DNA from the human myotonic dystrophy and Fragile X loci J. Biol. Chem. 273 1998 26998
170. M Wierdl C.N Greene A Datta S Jinks-Robertson T.D Petes Destabilisation of simple repetitive DNA sequences by transcription in yeast Genetics 143 1996 713
171. A Sancar Excision repair invades the territory of mismatch repair Nature Genet. 21 1999 247
172. J.M Darlow D.R.F Leach Secondary structures in d(CGG) and d(CCG) repeat tracts J. Mol. Biol. 275 1998 3
173. A Bacolla R Gellibolian M Shimizu S Amirhaeri S Kang K Ohshima J.E Larson S.C Harvey B.D Stollar R.D Wells Flexible DNA: genetically unstable CTG·CAG and CGG·CCG from human hereditary neuromuscular disease genes J. Biol. Chem. 272 1997 16783
174. P.D Chastain R.R Sinden CTG repeats associated with human genetic disease are inherently flexible J. Mol. Biol. 275 1998 405
175. R.D Wells Unusual DNA structures J. Biol. Chem. 263 1988 1095
176. H Moore P.W Greenwell C.-P Liu N Arnheim T.D Petes Triplet repeats form secondary structures that escape DNA repair in yeast 6th ed. Proc. Natl. Acad. Sci. USA 96 1999 1504
177. S.V.S Mariappan P Catasti L.A Silks III E.M Bradbury G Gupta The high-resolution structure of the triplex formed by the GAA/TTC triplet repeat associated with Friedreich's ataxia J. Mol. Biol. 285 1999 2035
178. N Sakamoto P.D Chastain P Parniewski K Ohshima M Pandolfo J.D Griffith R.D Wells Sticky DNA: Self-association properties of long GAA · TTC repeats in R · R · Y triplex structures from Friedreich's ataxia Mol. Cell 3 1999 465
179. n J. Biol. Chem. 274 1999 12797
180. Y.-H Wang S Amirhaeri S Kang R.D Wells J.D Griffith Preferential nucleosome assembly at DNA triplet repeats from the myotonic dystrophy gene Science 265 1994 669
181. Y.-H Wang J.D Griffith Expanded CTG triplet blocks from the myotonic dystrophy gene create the strongest known natural nucleosome positioning elements Genomics 25 1995 570
182. J.S Godde A.P Wolffe Nucleosome assembly on CTG triplet repeats J. Biol. Chem 271 1996 15222
183. Y.-H Wang R Gellibolian M Shimizu R.D Wells J.D Griffith Long CCG triplet repeat blocks exclude nueleosomes: a possible mechanism for the nature of fragile sites in chromosomes J. Mol. Biol. 263 1996 511
184. J.S Godde S.U Kass M.C Hirst A.P Wolffe Nucleosome assembly on methylated CGG triplet repeats in the Fragile X mental retardation gene 1 promoter J. Biol. Chem. 271 1996 24325
185. G.J Brock N.H Anderson D.G Monckton Cis-acting modifiers of expanded CAG/CTG triplet repeat expandability: associations with flanking GC content and proximity to CpG islands Hum. Mol. Genet. 8 1999 1061
186. A.D Otten S.J Tapscott Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure 6th ed. Proc. Nad. Acad. Sci. USA 92 1995 5465
187. K Ohshima S Kang R.D Wells CTG triplet repeats from human hereditary diseases are dominant genetic expansion products in Escherichia coli J. Biol. Chem. 271 1996 1853
188. D.G Monckton M.I Coolbaugh K.T Ashizawa M.J Siciliano C.T Caskey Hypermutable myotonic dystrophy CTG repeat mouse transgenes Nature Genet. 15 1997 193
189. S.I Bidichandani S.M Purandare E.E Taylor G Gumin H Machkhas Y Harati R.A Gibbs T Ashizawa P.I Patel Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts, and enhanced mutagenesis in the flanking sequence Hum. Mot. Genet. 8 1999 2425
190. Y.P Goldberg M.A Kalchman M Metzler J Nasir J Zeisler R Graham H.B Koide J O'Kusky A.H Sharp C.A Ross F Jirik M.R Hayden Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington disease transcript Hum. Mot. Genet. 5 1996 177
191. G Gourdon F Radvanyi A.-S Lia C Duros M Blanche M Abitbol C Junien H Hofmann-Radvanyi Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice Nature Genet. 15 1997 190
192. L Mangiarini K Sathasivam A Mahal R Mott M Seller G.P Bates Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation Nature Genet. 15 1997 197
193. A.R La Spada K.R Peterson S.A Meadows M.E McClain G Jeng R.S Chmelar H.A Haugen K Chen M.J Singer D Moore B.J Trask K.H Fischbeck C.H Clegg G.S McKnight Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability Hum. Mot. Genet. 7 1998 959
194. D Wohrle I Hennig W Vogel P Steinbach Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion Nature Genet. 4 1993 140
195. D Wöhrle U Salat D Glaser J Mucke M Meisel-Stosiek D Schindler W Vogel P Steinbach Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats J. Med. Genet. 35 1998 103
196. D Wöhrle I Kennerknecht M Wolf H Enders S Schwemmle P Steinbach Heterogeneity of DM kinase repeat expansion in different foetal tissues and further expansion during cell proliferation in vitro : evidence for a causal involvement of methyl-directed DNA mismatch repair in triplet repeat stability Hum. Mot. Genet. 4 1995 1147
197. P Steinbach D Wohrle D Glaser W Vogel R.D Wells S.T Warren Genetic Instabilities and Hereditary Neurological Diseases 1998 Academic Press New York 509
198. R.W Burman B.W Popovich P.B Jacky M.S Turker Fully expanded FMR1 CGG repeats exhibit a length- and differentiation-dependent instability in cell hybrids that is independent of methylation Hum. Mot. Genet. 8 1999 2293
199. n repeats in the myotonin protein kinase gene in cultured lymphoblastoid cell lines from patients with myotonic dystrophy Genomics 36 1996 47
200. G Levinson G.A Gutman Slipped-strand mispairing: a major mechanism for DNA sequence evolution Mol. Biol. Evol. 4 1987 203
201. R Fishel R.D Kolodner Identification of mismatch repair genes and their role in the development of cancer Curr. Opin. Genet. Dev. 5 1995 382
202. K.W Kinzler B Vogelstein Lessons from hereditary colorectal cancer Cell 87 1996 159
203. L.A Loeb Microsatellite instability: marker of a mutator phenotype in cancer Cancer Res. 54 1994 5059
204. P Harper R.D Wells S.T Warren Genetic Instabilities and Hereditary Neurological Diseases 1998 Academic Press New York 115
205. R Gellibolian A Bacolla R.D Wells S.T Warren Genetic Instabilities and Hereditary Neurological Diseases 1998 Academic Press New York 561