The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Trinucleotide Repeats

Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of Trinucleotide Repeats


Psychiatry related information on Trinucleotide Repeats


High impact information on Trinucleotide Repeats


Chemical compound and disease context of Trinucleotide Repeats


Biological context of Trinucleotide Repeats


Anatomical context of Trinucleotide Repeats


Associations of Trinucleotide Repeats with chemical compounds

  • Our results demonstrate the existence of the expanded CAG repeat gene product and support the possibility that the expanded CAG-encoded polyglutamine stretch may participate in the pathological process of the similar trinucleotide repeat diseases [31].
  • We now show that conclusive information about the chromosomal localization of long trinucleotide repeats can be achieved in a relatively short time using fluorescence in situ hybridization (FISH) with biotin-labelled trinucleotide polymers [32].
  • Ten individuals from different kindreds were found to have an identical polyalanine triplet repeat expansion ([GCG](9)) in the PABP2 gene [33].
  • The expansion of a polymorphic trinucleotide repeat (the sequence CAG that codes for glutamine) to a length that exceeds 40 repeat units in exon 1 of the gene, HD, correlates with the onset and progression of the disease [34].
  • The GCA hairpin loop consists of a single cytidine residue closed by a sheared G.A pair and this structure is discussed in the context of triplet expansions in triplet-repeat diseases [35].

Gene context of Trinucleotide Repeats


Analytical, diagnostic and therapeutic context of Trinucleotide Repeats


  1. Origin of the expansion mutation in myotonic dystrophy. Imbert, G., Kretz, C., Johnson, K., Mandel, J.L. Nat. Genet. (1993) [Pubmed]
  2. Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome. Lugenbeel, K.A., Peier, A.M., Carson, N.L., Chudley, A.E., Nelson, D.L. Nat. Genet. (1995) [Pubmed]
  3. Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human. Huynh, D.P., Figueroa, K., Hoang, N., Pulst, S.M. Nat. Genet. (2000) [Pubmed]
  4. Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. La Spada, A.R., Roling, D.B., Harding, A.E., Warner, C.L., Spiegel, R., Hausmanowa-Petrusewicz, I., Yee, W.C., Fischbeck, K.H. Nat. Genet. (1992) [Pubmed]
  5. Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA. Koob, M.D., Benzow, K.A., Bird, T.D., Day, J.W., Moseley, M.L., Ranum, L.P. Nat. Genet. (1998) [Pubmed]
  6. The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Andrew, S.E., Goldberg, Y.P., Kremer, B., Telenius, H., Theilmann, J., Adam, S., Starr, E., Squitieri, F., Lin, B., Kalchman, M.A. Nat. Genet. (1993) [Pubmed]
  7. Differential impact of the FMR1 gene on visual processing in fragile X syndrome. Kogan, C.S., Boutet, I., Cornish, K., Zangenehpour, S., Mullen, K.T., Holden, J.J., Der Kaloustian, V.M., Andermann, E., Chaudhuri, A. Brain (2004) [Pubmed]
  8. Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder. Persico, A.M., D'Agruma, L., Maiorano, N., Totaro, A., Militerni, R., Bravaccio, C., Wassink, T.H., Schneider, C., Melmed, R., Trillo, S., Montecchi, F., Palermo, M., Pascucci, T., Puglisi-Allegra, S., Reichelt, K.L., Conciatori, M., Marino, R., Quattrocchi, C.C., Baldi, A., Zelante, L., Gasparini, P., Keller, F. Mol. Psychiatry (2001) [Pubmed]
  9. Trinucleotide repeat expansion in the FRAXE locus is not common among institutionalized individuals with non-specific developmental disabilities. Holden, J.J., Julien-Inalsingh, C., Chalifoux, M., Wing, M., Scott, E., Fidler, K., Swift, I., Maidment, B., Knight, S.J., Davies, K.E., White, B.N. Am. J. Med. Genet. (1996) [Pubmed]
  10. Accumulation of NEDD8 in neuronal and glial inclusions of neurodegenerative disorders. Mori, F., Nishie, M., Piao, Y.S., Kito, K., Kamitani, T., Takahashi, H., Wakabayashi, K. Neuropathol. Appl. Neurobiol. (2005) [Pubmed]
  11. Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12. Holmes, S.E., O'Hearn, E.E., McInnis, M.G., Gorelick-Feldman, D.A., Kleiderlein, J.J., Callahan, C., Kwak, N.G., Ingersoll-Ashworth, R.G., Sherr, M., Sumner, A.J., Sharp, A.H., Ananth, U., Seltzer, W.K., Boss, M.A., Vieria-Saecker, A.M., Epplen, J.T., Riess, O., Ross, C.A., Margolis, R.L. Nat. Genet. (1999) [Pubmed]
  12. Behavioural abnormalities and selective neuronal loss in HD transgenic mice expressing mutated full-length HD cDNA. Reddy, P.H., Williams, M., Charles, V., Garrett, L., Pike-Buchanan, L., Whetsell, W.O., Miller, G., Tagle, D.A. Nat. Genet. (1998) [Pubmed]
  13. Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene. Thornton, C.A., Wymer, J.P., Simmons, Z., McClain, C., Moxley, R.T. Nat. Genet. (1997) [Pubmed]
  14. Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue. Wilson, R.B., Roof, D.M. Nat. Genet. (1997) [Pubmed]
  15. Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeat. Yu, S., Mangelsdorf, M., Hewett, D., Hobson, L., Baker, E., Eyre, H.J., Lapsys, N., Le Paslier, D., Doggett, N.A., Sutherland, G.R., Richards, R.I. Cell (1997) [Pubmed]
  16. Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1). Banfi, S., Servadio, A., Chung, M., Capozzoli, F., Duvick, L.A., Elde, R., Zoghbi, H.Y., Orr, H.T. Hum. Mol. Genet. (1996) [Pubmed]
  17. The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression. Kim, Y.J., Noguchi, S., Hayashi, Y.K., Tsukahara, T., Shimizu, T., Arahata, K. Hum. Mol. Genet. (2001) [Pubmed]
  18. RNA structure inhibits the TRAP (trp RNA-binding attenuation protein)-RNA interaction. Xirasagar, S., Elliott, M.B., Bartolini, W., Gollnick, P., Gottlieb, P.A. J. Biol. Chem. (1998) [Pubmed]
  19. Anomalous rapid electrophoretic mobility of DNA containing triplet repeats associated with human disease genes. Chastain, P.D., Eichler, E.E., Kang, S., Nelson, D.L., Levene, S.D., Sinden, R.R. Biochemistry (1995) [Pubmed]
  20. A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia. Cellini, E., Piacentini, S., Nacmias, B., Forleo, P., Tedde, A., Bagnoli, S., Ciantelli, M., Sorbi, S. Arch. Neurol. (2002) [Pubmed]
  21. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nagafuchi, S., Yanagisawa, H., Sato, K., Shirayama, T., Ohsaki, E., Bundo, M., Takeda, T., Tadokoro, K., Kondo, I., Murayama, N. Nat. Genet. (1994) [Pubmed]
  22. Molecular predictors of cognitive involvement in female carriers of fragile X syndrome. Taylor, A.K., Safanda, J.F., Fall, M.Z., Quince, C., Lang, K.A., Hull, C.E., Carpenter, I., Staley, L.W., Hagerman, R.J. JAMA (1994) [Pubmed]
  23. Recombination-induced CAG trinucleotide repeat expansions in yeast involve the MRE11-RAD50-XRS2 complex. Richard, G.F., Goellner, G.M., McMurray, C.T., Haber, J.E. EMBO J. (2000) [Pubmed]
  24. Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat. Monrós, E., Moltó, M.D., Martínez, F., Cañizares, J., Blanca, J., Vílchez, J.J., Prieto, F., de Frutos, R., Palau, F. Am. J. Hum. Genet. (1997) [Pubmed]
  25. Transposon telomeres are widely distributed in the Drosophila genus: TART elements in the virilis group. Casacuberta, E., Pardue, M.L. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  26. SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Burright, E.N., Clark, H.B., Servadio, A., Matilla, T., Feddersen, R.M., Yunis, W.S., Duvick, L.A., Zoghbi, H.Y., Orr, H.T. Cell (1995) [Pubmed]
  27. Searching for NIDDM susceptibility genes: studies of genes with triplet repeats expressed in skeletal muscle. Yamagata, K., Takeda, J., Menzel, S., Chen, X., Eng, S., Lim, L.R., Concannon, P., Hanis, C.L., Spielman, R.S., Cox, N.J., Bell, G.I. Diabetologia (1996) [Pubmed]
  28. Linkage between androgen receptor gene CAG trinucleotide repeat length and testicular germ cell cancer histological type and clinical stage. Giwercman, A., Lundin, K.B., Eberhard, J., Ståhl, O., Cwikiel, M., Cavallin-Ståhl, E., Giwercman, Y.L. Eur. J. Cancer (2004) [Pubmed]
  29. Isolation and characterization of trinucleotide repeat containing partial transcripts in human spinal cord. Kaushik, N., Malaspina, A., Schalling, M., Baas, F., de Belleroche, J. Neurogenetics (1998) [Pubmed]
  30. Rat PPAR delta contains a CGG triplet repeat and is prominently expressed in the thalamic nuclei. Xing, G., Zhang, L., Zhang, L., Heynen, T., Yoshikawa, T., Smith, M., Weiss, S., Detera-Wadleigh, S. Biochem. Biophys. Res. Commun. (1995) [Pubmed]
  31. Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain. Yazawa, I., Nukina, N., Hashida, H., Goto, J., Yamada, M., Kanazawa, I. Nat. Genet. (1995) [Pubmed]
  32. Chromosomal localization of long trinucleotide repeats in the human genome by fluorescence in situ hybridization. Haaf, T., Sirugo, G., Kidd, K.K., Ward, D.C. Nat. Genet. (1996) [Pubmed]
  33. Oculopharyngeal muscular dystrophy in Hispanic New Mexicans. Becher, M.W., Morrison, L., Davis, L.E., Maki, W.C., King, M.K., Bicknell, J.M., Reinert, B.L., Bartolo, C., Bear, D.G. JAMA (2001) [Pubmed]
  34. Recent advances in understanding the pathogenesis of Huntington's disease. Reddy, P.H., Williams, M., Tagle, D.A. Trends Neurosci. (1999) [Pubmed]
  35. Structure of a single-cytidine hairpin loop formed by the DNA triplet GCA. Zhu, L., Chou, S.H., Xu, J., Reid, B.R. Nat. Struct. Biol. (1995) [Pubmed]
  36. Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Knight, S.J., Flannery, A.V., Hirst, M.C., Campbell, L., Christodoulou, Z., Phelps, S.R., Pointon, J., Middleton-Price, H.R., Barnicoat, A., Pembrey, M.E. Cell (1993) [Pubmed]
  37. The molecular basis of hypodactyly (Hd): a deletion in Hoxa 13 leads to arrest of digital arch formation. Mortlock, D.P., Post, L.C., Innis, J.W. Nat. Genet. (1996) [Pubmed]
  38. Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap. Knight, S.J., Voelckel, M.A., Hirst, M.C., Flannery, A.V., Moncla, A., Davies, K.E. Am. J. Hum. Genet. (1994) [Pubmed]
  39. Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract. Goodman, F.R., Mundlos, S., Muragaki, Y., Donnai, D., Giovannucci-Uzielli, M.L., Lapi, E., Majewski, F., McGaughran, J., McKeown, C., Reardon, W., Upton, J., Winter, R.M., Olsen, B.R., Scambler, P.J. Proc. Natl. Acad. Sci. U.S.A. (1997) [Pubmed]
  40. [11C]raclopride-PET studies of the Huntington's disease rate of progression: relevance of the trinucleotide repeat length. Antonini, A., Leenders, K.L., Eidelberg, D. Ann. Neurol. (1998) [Pubmed]
  41. Analysis of human flap endonuclease 1 mutants reveals a mechanism to prevent triplet repeat expansion. Liu, Y., Bambara, R.A. J. Biol. Chem. (2003) [Pubmed]
  42. PCR bias in amplification of androgen receptor alleles, a trinucleotide repeat marker used in clonality studies. Mutter, G.L., Boynton, K.A. Nucleic Acids Res. (1995) [Pubmed]
  43. Sequence analysis of the CCG polymorphic region adjacent to the CAG triplet repeat of the HD gene in normal and HD chromosomes. Pêcheux, C., Mouret, J.F., Dürr, A., Agid, Y., Feingold, J., Brice, A., Dodé, C., Kaplan, J.C. J. Med. Genet. (1995) [Pubmed]
  44. Fragile X syndrome with FMR1 and FMR2 deletion. Moore, S.J., Strain, L., Cole, G.F., Miedzybrodzka, Z., Kelly, K.F., Dean, J.C. J. Med. Genet. (1999) [Pubmed]
WikiGenes - Universities