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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Dinucleotide Repeats

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Disease relevance of Dinucleotide Repeats


Psychiatry related information on Dinucleotide Repeats


High impact information on Dinucleotide Repeats

  • A yeast strain containing a mutation in the PCNA gene had a strongly elevated mutation rate in a dinucleotide repeat, and the rate was not further elevated in a strain also containing a mutation in MLH1 [9].
  • These data and reports indicating that S. cerevisiae msh2 mutations cause an instability of dinucleotide repeats like those associated with HNPCC suggest that hMSH2 is the HNPCC gene [10].
  • Pima Indians were scored for genotypes at three polymorphic dinucleotide repeat loci (markers) near the gene TNF-alpha at 6p21 [11].
  • Association between dinucleotide repeat in non-coding region of interferon-gamma gene and susceptibility to, and severity of, rheumatoid arthritis [12].
  • The homopolymeric nucleotide tracts and dinucleotide repeats, which potentially regulate the on- and off-status of the target genes by the strand-slipped mispairing mechanism, are often found in the genes encoding the outer-membrane proteins, in enzymes for lipopolysaccharide synthesis, and within DNA modification/restriction systems [13].

Chemical compound and disease context of Dinucleotide Repeats


Biological context of Dinucleotide Repeats

  • We analyzed a set of polymorphic dinucleotide-repeat markers flanking the microdeletion on chromosome 17 in a group of seven unrelated families with a de novo NF1 microdeletion [18].
  • We find significant linkage disequilibrium between CLN3 and the dinucleotide repeat marker loci D16S288 (chi 2(7) = 46.5, P < .005), D16S298 (chi 2(6) = 36.6, P < .005), and D16S299 (chi 2(7) = 73.8, P < .005), and also a novel RFLP marker at the D16S272 locus (chi 2(1) = 5.7, P = .02) [19].
  • Direct DNA sequence analysis of the (dC-dA)n.(dG-dT)n locus in intron 49 revealed an additional length polymorphism which varies by single-basepair increments, is adjacent to the dinucleotide repeat block, and enhances the polymorphic content of this marker [20].
  • A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing [21].
  • Using a new assay, we have also discovered that mutations in spel1 decrease the stability of a dinucleotide repeat when it is copied into the site of a double-strand break during gene conversion [22].

Anatomical context of Dinucleotide Repeats


Associations of Dinucleotide Repeats with chemical compounds

  • We demonstrate further that 3 alpha, 5 beta, 17 beta-dipyrandenium bound to poly(dA-dT) at low binding ratios induces a switch to the dinucleotide repeat conformation at adjacent steroid-free duplex regions [28].
  • Right-handed alternating DNA conformation: poly(dA-dT) adopts the same dinucleotide repeat with cesium, tetraalkylammonium, and 3 alpha, 5 beta, 17 beta-dipyrrolidinium steroid dimethiodide cations in aqueous solution [28].
  • Each internal eliminated sequence (IES) is bounded by 5'-TA-3' dinucleotide repeats, a feature common to some classes of DNA transposons [29].
  • We have identified a compound dinucleotide repeat within intron 7 of the human erythroid 5-aminolevulinate synthase (ALAS2) gene with a minimum of 9 alleles and heterozygosity of 78% [30].
  • From this we conclude that poly (rG-m5dC).poly (rG-m5dC) is in a regular A conformation in Tris buffer at low Na+ levels, shifting to an alternating A conformation with a dinucleotide repeat at intermediate salt concentrations [31].

Gene context of Dinucleotide Repeats

  • We have used highly informative dinucleotide repeat markers mapping between D16S148 and D16S150 to refine the localization of CLN3 and to test for linkage to CLN2 [19].
  • Like msh2 mutants in other species, we find that flies lacking the spel1 gene suffer a highly increased rate of instability in long runs of dinucleotide repeats when analyzed after 10-12 fly generations [22].
  • Two polymorphic markers, one located in intron 8 and another, a dinucleotide repeat marker, AFMa086wg9, located within intron 2, were analyzed in paired blood-tumor DNA samples to assess hemizygous deletions of PTEN [32].
  • Furthermore, a functional polymorphic dinucleotide repeat (TCTCT(TC)(n)) 500 bp upstream of the ATG translational start codon was found to regulate strongly the human HMGA2 promoter with an activation pattern that correlates to its TC-repeat length [33].
  • We performed linkage analysis using chromosome 17q polymorphisms at D17S74, SCN4A, and GH1, two chromosome 7q31 restriction fragment length polymorphisms, and a dinucleotide repeat polymorphism within the CFTR gene (CFTR-DNR), in three pedigrees with ADMC [34].

Analytical, diagnostic and therapeutic context of Dinucleotide Repeats


  1. Genetic instability associated with adenoma to carcinoma progression in hereditary nonpolyposis colon cancer. Jacoby, R.F., Marshall, D.J., Kailas, S., Schlack, S., Harms, B., Love, R. Gastroenterology (1995) [Pubmed]
  2. Genetic evidence for the involvement of tau in progressive supranuclear palsy. Conrad, C., Andreadis, A., Trojanowski, J.Q., Dickson, D.W., Kang, D., Chen, X., Wiederholt, W., Hansen, L., Masliah, E., Thal, L.J., Katzman, R., Xia, Y., Saitoh, T. Ann. Neurol. (1997) [Pubmed]
  3. Is there a genetic susceptibility locus for Parkinson's disease on chromosome 22q13? Wilhelmsen, K., Mirel, D., Marder, K., Bernstein, M., Naini, A., Leal, S.M., Cote, L.J., Tang, M.X., Freyer, G., Graziano, J., Mayeux, R. Ann. Neurol. (1997) [Pubmed]
  4. Human hormone-sensitive lipase: genetic mapping, identification of a new dinucleotide repeat, and association with obesity and NIDDM. Magré, J., Laurell, H., Fizames, C., Antoine, P.J., Dib, C., Vigouroux, C., Bourut, C., Capeau, J., Weissenbach, J., Langin, D. Diabetes (1998) [Pubmed]
  5. Endometrial and colorectal tumors from patients with hereditary nonpolyposis colon cancer display different patterns of microsatellite instability. Kuismanen, S.A., Moisio, A.L., Schweizer, P., Truninger, K., Salovaara, R., Arola, J., Butzow, R., Jiricny, J., Nyström-Lahti, M., Peltomäki, P. Am. J. Pathol. (2002) [Pubmed]
  6. Preliminary evidence for an association of a dinucleotide repeat polymorphism at the MAOA gene with early onset alcoholism/substance abuse. Vanyukov, M.M., Moss, H.B., Yu, L.M., Tarter, R.E., Deka, R. Am. J. Med. Genet. (1995) [Pubmed]
  7. No evidence for allelic association between bipolar disorder and monoamine oxidase A gene polymorphisms. Craddock, N., Daniels, J., Roberts, E., Rees, M., McGuffin, P., Owen, M.J. Am. J. Med. Genet. (1995) [Pubmed]
  8. GABA(A) receptor beta 3 subunit gene and psychiatric morbidity in a post-traumatic stress disorder population. Feusner, J., Ritchie, T., Lawford, B., Young, R.M., Kann, B., Noble, E.P. Psychiatry research. (2001) [Pubmed]
  9. Requirement for PCNA in DNA mismatch repair at a step preceding DNA resynthesis. Umar, A., Buermeyer, A.B., Simon, J.A., Thomas, D.C., Clark, A.B., Liskay, R.M., Kunkel, T.A. Cell (1996) [Pubmed]
  10. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Fishel, R., Lescoe, M.K., Rao, M.R., Copeland, N.G., Jenkins, N.A., Garber, J., Kane, M., Kolodner, R. Cell (1993) [Pubmed]
  11. Linkage between obesity and a marker near the tumor necrosis factor-alpha locus in Pima Indians. Norman, R.A., Bogardus, C., Ravussin, E. J. Clin. Invest. (1995) [Pubmed]
  12. Association between dinucleotide repeat in non-coding region of interferon-gamma gene and susceptibility to, and severity of, rheumatoid arthritis. Khani-Hanjani, A., Lacaille, D., Hoar, D., Chalmers, A., Horsman, D., Anderson, M., Balshaw, R., Keown, P.A. Lancet (2000) [Pubmed]
  13. Contributions of genome sequencing to understanding the biology of Helicobacter pylori. Ge, Z., Taylor, D.E. Annu. Rev. Microbiol. (1999) [Pubmed]
  14. No evidence for an association of AChR beta-subunit gene (CHRNB1) with myasthenia gravis. Djabiri, F., Gajdos, P., Eymard, B., Gomez, L., Bach, J.F., Garchon, H.J. J. Neuroimmunol. (1997) [Pubmed]
  15. The phospholipase C-gamma1 gene (PLCG1) and lithium-responsive bipolar disorder: re-examination of an intronic dinucleotide repeat polymorphism. Løvlie, R., Berle, J.O., Stordal, E., Steen, V.M. Psychiatr. Genet. (2001) [Pubmed]
  16. Genetic determinants of cancer drug efficacy and toxicity: practical considerations and perspectives. Candelaria, M., Taja-Chayeb, L., Arce-Salinas, C., Vidal-Millan, S., Serrano-Olvera, A., Dueñas-Gonzalez, A. Anticancer Drugs (2005) [Pubmed]
  17. Associations between polymorphisms in the steroid 5-alpha reductase type II (SRD5A2) gene and benign prostatic hyperplasia and prostate cancer. Salam, M.T., Ursin, G., Skinner, E.C., Dessissa, T., Reichardt, J.K. Urol. Oncol. (2005) [Pubmed]
  18. Unequal meiotic crossover: a frequent cause of NF1 microdeletions. López Correa, C., Brems, H., Lázaro, C., Marynen, P., Legius, E. Am. J. Hum. Genet. (2000) [Pubmed]
  19. Linkage disequilibrium between the juvenile neuronal ceroid lipofuscinosis gene and marker loci on chromosome 16p 12.1. Lerner, T.J., Boustany, R.M., MacCormack, K., Gleitsman, J., Schlumpf, K., Breakefield, X.O., Gusella, J.F., Haines, J.L. Am. J. Hum. Genet. (1994) [Pubmed]
  20. Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms. Clemens, P.R., Fenwick, R.G., Chamberlain, J.S., Gibbs, R.A., de Andrade, M., Chakraborty, R., Caskey, C.T. Am. J. Hum. Genet. (1991) [Pubmed]
  21. A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing. Hefferon, T.W., Groman, J.D., Yurk, C.E., Cutting, G.R. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  22. Microsatellite instability in Drosophila spellchecker1 (MutS homolog) mutants. Flores, C., Engels, W. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  23. Oxidative stress increases frameshift mutations in human colorectal cancer cells. Gasche, C., Chang, C.L., Rhees, J., Goel, A., Boland, C.R. Cancer Res. (2001) [Pubmed]
  24. Glucose induces clonal selection and reversible dinucleotide repeat expansion in mesangial cells isolated from glomerulosclerosis-prone mice. Fornoni, A., Lenz, O., Striker, L.J., Striker, G.E. Diabetes (2003) [Pubmed]
  25. Reduction of stability of arabidopsis genomic and transgenic DNA-repeat sequences (microsatellites) by inactivation of AtMSH2 mismatch-repair function. Leonard, J.M., Bollmann, S.R., Hays, J.B. Plant Physiol. (2003) [Pubmed]
  26. Human type I pituitary adenylate cyclase activating polypeptide receptor (ADCYAP1R): localization to chromosome band 7p14 and integration into the cytogenetic, physical, and genetic map of chromosome 7. Stoffel, M., Espinosa, R., Trabb, J.B., Le Beau, M.M., Bell, G.I. Genomics (1994) [Pubmed]
  27. Loss of heterozygosity of the NOS3 dinucleotide repeat marker in atherosclerotic plaques of human carotid arteries. Grati, F.R., Ghilardi, G., Sirchia, S.M., Massaro, F., Cassani, B., Scorza, R., De Andreis, C., Sironi, E., Simoni, G. Atherosclerosis (2001) [Pubmed]
  28. Right-handed alternating DNA conformation: poly(dA-dT) adopts the same dinucleotide repeat with cesium, tetraalkylammonium, and 3 alpha, 5 beta, 17 beta-dipyrrolidinium steroid dimethiodide cations in aqueous solution. Patel, D.J., Kozlowski, S.A., Suggs, J.W., Cox, S.D. Proc. Natl. Acad. Sci. U.S.A. (1981) [Pubmed]
  29. Developmentally regulated excision of a 28-base-pair sequence from the Paramecium genome requires flanking DNA. Ku, M., Mayer, K., Forney, J.D. Mol. Cell. Biol. (2000) [Pubmed]
  30. Identification of a highly polymorphic marker within intron 7 of the ALAS2 gene and suggestion of at least two loci for X-linked sideroblastic anemia. Cox, T.C., Kozman, H.M., Raskind, W.H., May, B.K., Mulley, J.C. Hum. Mol. Genet. (1992) [Pubmed]
  31. Salt induced transitions between multiple conformations of poly (rG-m5dC).poly (rG-m5dC). Wu, H.Y., Behe, M.J. Nucleic Acids Res. (1985) [Pubmed]
  32. Somatic deletions and mutations in the Cowden disease gene, PTEN, in sporadic thyroid tumors. Dahia, P.L., Marsh, D.J., Zheng, Z., Zedenius, J., Komminoth, P., Frisk, T., Wallin, G., Parsons, R., Longy, M., Larsson, C., Eng, C. Cancer Res. (1997) [Pubmed]
  33. Human HMGA2 promoter is coregulated by a polymorphic dinucleotide (TC)-repeat. Borrmann, L., Seebeck, B., Rogalla, P., Bullerdiek, J. Oncogene (2003) [Pubmed]
  34. Linkage analysis of candidate loci in autosomal dominant myotonia congenita. Abdalla, J.A., Casley, W.L., Hudson, A.J., Murphy, E.G., Cousin, H.K., Armstrong, H.A., Ebers, G.C. Neurology (1992) [Pubmed]
  35. PCR detection of a dinucleotide repeat in the human histidine-rich glycoprotein (HRG) gene. Hennis, B.C., Havelaar, A.C., Kluft, C. Hum. Mol. Genet. (1992) [Pubmed]
  36. Heme oxygenase-1 genotype and restenosis after balloon angioplasty: a novel vascular protective factor. Schillinger, M., Exner, M., Minar, E., Mlekusch, W., Müllner, M., Mannhalter, C., Bach, F.H., Wagner, O. J. Am. Coll. Cardiol. (2004) [Pubmed]
  37. Linkage mapping of the human gene for the alpha 1 subunit of the cardiac DHP-sensitive Ca2+ channel (CACNL1A1) to chromosome 12p13.2-pter using a dinucleotide repeat. Powers, P.A., Gregg, R.G., Hogan, K. Genomics (1992) [Pubmed]
  38. Use of a polymorphic dinucleotide repeat sequence to detect non-blastomeric contamination of the polymerase chain reaction in biopsy samples for preimplantation diagnosis. Pickering, S.J., McConnell, J.M., Johnson, M.H., Braude, P.R. Hum. Reprod. (1994) [Pubmed]
  39. CTLA-4/CD 28 region polymorphisms in children from families with autoimmune hepatitis. Djilali-Saiah, I., Ouellette, P., Caillat-Zucman, S., Debray, D., Kohn, J.I., Alvarez, F. Hum. Immunol. (2001) [Pubmed]
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