Nucleic Acids Research, Vol 25, Issue 12 2245-2254, Copyright © 1997 by Oxford University Press
M Mitas
Triplet repeat expansion diseases (TREDs) are characterized by the
coincidence of disease manifestation with amplification of d(CAG. CTG),
d(CGG.CCG) or d(GAA.TTC) repeats contained within specific genes.
Amplification of triplet repeats continues in offspring of affected
individuals, which generally results in progressive severity of the disease
and/or an earlier age of onset, phenomena clinically referred to as
'anticipation'. Recent biophysical and biochemical studies reveal that five
of the six [d(CGG)n, d(CCG)n, (CAG)n, d(CTG)n and d(GAA)n] complementary
sequences that are associated with human disease form stable hairpin
structures. Although the triplet repeat sequences d(GAC)n and d(GTC)n also
form hairpins, repeats of the double-stranded forms of these sequences are
conspicuously absent from DNA sequence databases and are not anticipated to
be associated with human disease. With the exception of d(GAG)n and
d(GTG)n, the remaining triplet repeat sequences are unlikely to form
hairpin structures at physiological salt and temperature. The details of
hairpin structures containing trinucleotide repeats are summarized and
discussed with respect to potential mechanisms of triplet repeat expansion
and d(CGG.CCG) n methylation/demethylation.
REVIEWS
Trinucleotide repeats associated with human disease
Department of Biochemistry and Molecular Biology, Oklahoma State University, 246 Noble Research Center, Stillwater, OK 74078, USA. mmitas@biochem.okstate.edu
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  M. Brandstrom and H. Ellegren Genome-wide analysis of microsatellite polymorphism in chicken circumventing the ascertainment bias Genome Res., June 1, 2008; 18(6): 881 - 887. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A.-M. Patch and S. J. Aves Fingerprinting fission yeast: polymorphic markers for molecular genetic analysis of Schizosaccharomyces pombe strains Microbiology, March 1, 2007; 153(3): 887 - 897. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. J. Gray, J. Gerhardt, W. Doerfler, L. E. Small, and E. Fanning An Origin of DNA Replication in the Promoter Region of the Human Fragile X Mental Retardation (FMR1) Gene Mol. Cell. Biol., January 15, 2007; 27(2): 426 - 437. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 B. T. Farrell and R. S. Lahue CAG{middle dot}CTG repeat instability in cultured human astrocytes Nucleic Acids Res., September 11, 2006; 34(16): 4495 - 4505. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 H. Kim and D. M. Livingston A High Mobility Group Protein Binds to Long CAG Repeat Tracts and Establishes Their Chromatin Organization in Saccharomyces cerevisiae J. Biol. Chem., June 9, 2006; 281(23): 15735 - 15740. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
K. Walter, G. Warnecke, R. Bowater, W. Deppert, and E. Kim Tumor Suppressor p53 Binds with High Affinity to CTG{middle dot}CAG Trinucleotide Repeats and Induces Topological Alterations in Mismatched Duplexes J. Biol. Chem., December 30, 2005; 280(52): 42497 - 42507. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Napierala, A. Bacolla, and R. D. Wells Increased Negative Superhelical Density in Vivo Enhances the Genetic Instability of Triplet Repeat Sequences J. Biol. Chem., November 11, 2005; 280(45): 37366 - 37376. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. Subramanian, S. Vijayakumar, A. E. Tomkinson, and N. Arnheim Genetic Instability Induced by Overexpression of DNA Ligase I in Budding Yeast Genetics, October 1, 2005; 171(2): 427 - 441. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Bhattacharyya and R. S. Lahue Srs2 Helicase of Saccharomyces cerevisiae Selectively Unwinds Triplet Repeat DNA J. Biol. Chem., September 30, 2005; 280(39): 33311 - 33317. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
V. Handa, H. J. C. Yeh, P. McPhie, and K. Usdin The AUUCU Repeats Responsible for Spinocerebellar Ataxia Type 10 Form Unusual RNA Hairpins J. Biol. Chem., August 12, 2005; 280(32): 29340 - 29345. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Amrane, B. Sacca, M. Mills, M. Chauhan, H. H. Klump, and J.-L. Mergny Length-dependent energetics of (CTG)n and (CAG)n trinucleotide repeats Nucleic Acids Res., July 21, 2005; 33(13): 4065 - 4077. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R. D. Wells, R. Dere, M. L. Hebert, M. Napierala, and L. S. Son Advances in mechanisms of genetic instability related to hereditary neurological diseases Nucleic Acids Res., July 8, 2005; 33(12): 3785 - 3798. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 Y. Lian and H. R. Garner Evidence for the regulation of alternative splicing via complementary DNA sequence repeats Bioinformatics, April 15, 2005; 21(8): 1358 - 1364. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
T. Boby, A.-M. Patch, and S. J. Aves TRbase: a database relating tandem repeats to disease genes for the human genome Bioinformatics, March 15, 2005; 21(6): 811 - 816. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L. M. Chi and S. L. Lam Structural roles of CTG repeats in slippage expansion during DNA replication Nucleic Acids Res., March 14, 2005; 33(5): 1604 - 1617. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
V. I. Hashem, M. J. Pytlos, E. A. Klysik, K. Tsuji, M. Khajav, T. Ashizawa, and R. R. Sinden Chemotherapeutic deletion of CTG repeats in lymphoblast cells from DM1 patients Nucleic Acids Res., December 1, 2004; 32(21): 6334 - 6346. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R. Dere, M. Napierala, L. P. W. Ranum, and R. D. Wells Hairpin Structure-forming Propensity of the (CCTG{middle dot}CAGG) Tetranucleotide Repeats Contributes to the Genetic Instability Associated with Myotonic Dystrophy Type 2 J. Biol. Chem., October 1, 2004; 279(40): 41715 - 41726. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L. H. Mochmann and R. D. Wells Transcription influences the types of deletion and expansion products in an orientation-dependent manner from GAC*GTC repeats Nucleic Acids Res., August 18, 2004; 32(15): 4469 - 4479. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 G. Buchanan, M. Yang, A. Cheong, J. M. Harris, R. A. Irvine, P. F. Lambert, N. L. Moore, M. Raynor, P. J. Neufing, G. A. Coetzee, et al. Structural and functional consequences of glutamine tract variation in the androgen receptor Hum. Mol. Genet., August 15, 2004; 13(16): 1677 - 1692. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. J. Dixon and R. S. Lahue DNA elements important for CAG{middle dot}CTG repeat thresholds in Saccharomyces cerevisiae Nucleic Acids Res., February 24, 2004; 32(4): 1289 - 1297. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
H. Lavoie, F. Debeane, Q.-D. Trinh, J.-F. Turcotte, L.-P. Corbeil-Girard, M.-J. Dicaire, A. Saint-Denis, M. Page, G. A. Rouleau, and B. Brais Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains Hum. Mol. Genet., November 15, 2003; 12(22): 2967 - 2979. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. L. Callahan, K. J. Andrews, V. A. Zakian, and C. H. Freudenreich Mutations in Yeast Replication Proteins That Increase CAG/CTG Expansions Also Increase Repeat Fragility Mol. Cell. Biol., November 1, 2003; 23(21): 7849 - 7860. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S.-R. Yoon, L. Dubeau, M. de Young, N. S. Wexler, and N. Arnheim Huntington disease expansion mutations in humans can occur before meiosis is completed PNAS, July 22, 2003; 100(15): 8834 - 8838. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R. Kolpakov, G. Bana, and G. Kucherov mreps: efficient and flexible detection of tandem repeats in DNA Nucleic Acids Res., July 1, 2003; 31(13): 3672 - 3678. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S.-H. Chou, K.-H. Chin, and A. H.-J. Wang Unusual DNA duplex and hairpin motifs Nucleic Acids Res., May 15, 2003; 31(10): 2461 - 2474. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
T. Nenguke, M. I. Aladjem, J. F. Gusella, N. S. Wexler, The Venezuela HD Project, and N. Arnheim Candidate DNA replication initiation regions at human trinucleotide repeat disease loci Hum. Mol. Genet., May 1, 2003; 12(9): 1021 - 1028. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. Volker, N. Makube, G. E. Plum, H. H. Klump, and K. J. Breslauer Conformational energetics of stable and metastable states formed by DNA triplet repeat oligonucleotides: Implications for triplet expansion diseases PNAS, November 12, 2002; 99(23): 14700 - 14705. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. Pluciennik, R. R. Iyer, M. Napierala, J. E. Larson, M. Filutowicz, and R. D. Wells Long CTG{middle dot}CAG Repeats from Myotonic Dystrophy Are Preferred Sites for Intermolecular Recombination J. Biol. Chem., September 6, 2002; 277(37): 34074 - 34086. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
E. Fabre, B. Dujon, and G.-F. Richard Transcription and nuclear transport of CAG/CTG trinucleotide repeats in yeast Nucleic Acids Res., August 15, 2002; 30(16): 3540 - 3547. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. Gonzalez, J. M. Ranz, and A. Ruiz Chromosomal Elements Evolve at Different Rates in the Drosophila Genome Genetics, July 1, 2002; 161(3): 1137 - 1154. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
P. Fojtik and M. Vorlickova The fragile X chromosome (GCC) repeat folds into a DNA tetraplex at neutral pH Nucleic Acids Res., November 15, 2001; 29(22): 4684 - 4690. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. von Eckardstein, A. Syska, J. Gromoll, A. Kamischke, M. Simoni, and E. Nieschlag Inverse Correlation between Sperm Concentration and Number of Androgen Receptor CAG Repeats in Normal Men J. Clin. Endocrinol. Metab., June 1, 2001; 86(6): 2585 - 2590. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. L. Rolfsmeier, M. J. Dixon, L. Pessoa-Brandão, R. Pelletier, J. J. Miret, and R. S. Lahue Cis-Elements Governing Trinucleotide Repeat Instability in Saccharomyces cerevisiae Genetics, April 1, 2001; 157(4): 1569 - 1579. [Abstract] [Full Text]
|
|
|
|
|
|
R. R. Iyer, A. Pluciennik, W. A. Rosche, R. R. Sinden, and R. D. Wells DNA Polymerase III Proofreading Mutants Enhance the Expansion and Deletion of Triplet Repeat Sequences in Escherichia coli J. Biol. Chem., January 21, 2000; 275(3): 2174 - 2184. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
B. S. Balakumaran, C. H. Freudenreich, and V. A. Zakian CGG/CCG repeats exhibit orientation-dependent instability and orientation-independent fragility in Saccharomyces cerevisiae Hum. Mol. Genet., January 1, 2000; 9(1): 93 - 100. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. S. Waldman, H. Tran, E. C. Goldsmith, and M. A. Resnick Long Inverted Repeats Are an At-Risk Motif for Recombination in Mammalian Cells Genetics, December 1, 1999; 153(4): 1873 - 1883. [Abstract] [Full Text]
|
|
|
|
|
|
T. Lyons-Darden and M. D. Topal Abasic Sites Induce Triplet-repeat Expansion during DNA Replication in Vitro J. Biol. Chem., September 10, 1999; 274(37): 25975 - 25978. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
P. J. White, R. H. Borts, and M. C. Hirst Stability of the Human Fragile X (CGG)n Triplet Repeat Array in Saccharomyces cerevisiae Deficient in Aspects of DNA Metabolism Mol. Cell. Biol., August 1, 1999; 19(8): 5675 - 5684. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
H. Moore, P. W. Greenwell, C.-P. Liu, N. Arnheim, and T. D. Petes Triplet repeats form secondary structures that escape DNA repair in yeast PNAS, February 16, 1999; 96(4): 1504 - 1509. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R. R. Iyer and R. D. Wells Expansion and Deletion of Triplet Repeat Sequences in Escherichia coli Occur on the Leading Strand of DNA Replication J. Biol. Chem., February 5, 1999; 274(6): 3865 - 3877. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. J. Miret, L. Pessoa-Brandao, and R. S. Lahue Orientation-dependent and sequence-specific expansions of CTG/CAG trinucleotide repeats in Saccharomyces cerevisiae PNAS, October 13, 1998; 95(21): 12438 - 12443. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
K. Ohshima, L. Montermini, R. D. Wells, and M. Pandolfo Inhibitory Effects of Expanded GAA·TTC Triplet Repeats from Intron I of the Friedreich Ataxia Gene on Transcription and Replication in Vivo J. Biol. Chem., June 5, 1998; 273(23): 14588 - 14595. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. van Belkum, S. Scherer, L. van Alphen, and H. Verbrugh Short-Sequence DNA Repeats in Prokaryotic Genomes Microbiol. Mol. Biol. Rev., June 1, 1998; 62(2): 275 - 293. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. F. Goodman and D. K. Fygenson DNA Polymerase Fidelity : From Genetics Toward a Biochemical Understanding Genetics, April 1, 1998; 148(4): 1475 - 1482. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
K. S. Lobachev, B. M. Shor, H. T. Tran, W. Taylor, J. D. Keen, M. A. Resnick, and D. A. Gordenin Factors Affecting Inverted Repeat Stimulation of Recombination and Deletion in Saccharomyces cerevisiae Genetics, April 1, 1998; 148(4): 1507 - 1524. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. Petruska, M. J. Hartenstine, and M. F. Goodman Analysis of Strand Slippage in DNA Polymerase Expansions of CAG/CTG Triplet Repeats Associated with Neurodegenerative Disease J. Biol. Chem., February 27, 1998; 273(9): 5204 - 5210. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C. H. Freudenreich, S. M. Kantrow, and V. A. Zakian Expansion and Length-Dependent Fragility of CTG Repeats in Yeast Science, February 6, 1998; 279(5352): 853 - 856. [Abstract] [Full Text]
|
|
|
|
|
|
A. Pluciennik, R. R. Iyer, P. Parniewski, and R. D. Wells Tandem Duplication. A NOVEL TYPE OF TRIPLET REPEAT INSTABILITY J. Biol. Chem., September 8, 2000; 275(37): 28386 - 28397. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
E. A. Oussatcheva, V. I. Hashem, Y. Zou, R. R. Sinden, and V. N. Potaman Involvement of the Nucleotide Excision Repair Protein UvrA in Instability of CAG{middle dot}CTG Repeat Sequences in Escherichia coli J. Biol. Chem., August 10, 2001; 276(33): 30878 - 30884. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. J. Hartenstine, M. F. Goodman, and J. Petruska Base Stacking and Even/Odd Behavior of Hairpin Loops in DNA Triplet Repeat Slippage and Expansion with DNA Polymerase J. Biol. Chem., June 9, 2000; 275(24): 18382 - 18390. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. Jankowski, F. Nasar, and D. K. Nag Meiotic instability of CAG repeat tracts occurs by double-strand break repair in yeast PNAS, February 29, 2000; 97(5): 2134 - 2139. [Abstract] [Full Text] [PDF]
|
|