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

Tandem Repeat Sequences

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Disease relevance of Tandem Repeat Sequences


Psychiatry related information on Tandem Repeat Sequences


High impact information on Tandem Repeat Sequences

  • AQP1 is a tetramer with each subunit containing an aqueous pore likened to an hourglass formed by obversely arranged tandem repeats [11].
  • In section i, structure, expression, and localization of the 18 human MUC genes and MUC gene products having tandem repeat domains and the specificity and application of MUC-specific antibodies that identify mucin gene products in airway tissues, cells, and secretions are overviewed [12].
  • MUC protein backbones are characterized by numerous tandem repeats that contain proline and are high in serine and/or threonine residues, the sites of O-glycosylation [12].
  • Our genetic risk association study shows that individuals homozygous for CLEC4M tandem repeats are less susceptible to SARS infection [13].
  • Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome [14].

Chemical compound and disease context of Tandem Repeat Sequences


Biological context of Tandem Repeat Sequences

  • The predicted 90 kD protein contains in its N-terminal half a tandem repeat structure highly similar to RCC1 (regulator of chromosome condensation), suggesting an interaction with a small GTPase [20].
  • The coxII region has several small deletions and tandem repeats that remove all of the segments coding for the residues involved in copper binding, but may possibly maintain the cytochrome c binding site [21].
  • Finding a second mutable locus within FMR-1 suggests that the target for tandem repeat instability may not be confined to the (CGG)n repeat alone and raises the possibility of an FMR-1 mutation mechanism involving microsatellites [22].
  • The lambda 51 clone as well as several others isolated from a human DNA library contained approximately 4.3 kilobases (kb) of retroviral sequences, were deleted in the env region, and were flanked by tandem repeats unlike the long terminal repeats (LTRs) typically found in proviral DNAs (P.E.S., in preparation) [23].
  • The Smu tandem repeat region is critical for Ig isotype switching in the absence of Msh2 [24].

Anatomical context of Tandem Repeat Sequences

  • Two DNA-binding proteins that specifically interact with two discrete regions of the S gamma 3 tandem repeat have been identified in crude and partially purified nuclear extracts derived from LPS- and dextran sulfate (DxS)-activated splenic B cells [25].
  • The status of X chromosome inactivation in blood leukocytes from obligate carriers of XCID was determined from the polymorphic, short tandem repeats (CAG), in the androgen receptor gene, which also contains a methylation-sensitive HpaII site [26].
  • Transfected cell lines showed stable maintenance of the mucin gene, which comprises 20 or more tandem repeats of a 60-nucleotide sequence [27].
  • Synthetic peptides corresponding to the human mucin MUC1 tandem repeat domain (20 residues) were glycosylated in vitro by using UDP-N-[3H]acetyl-D-galactosamine (GalNAc) and lysates of pancreatic tumor cell lines [28].
  • Site-specific core 1 O-glycosylation pattern of the porcine submaxillary gland mucin tandem repeat. Evidence for the modulation of glycan length by peptide sequence [29].

Associations of Tandem Repeat Sequences with chemical compounds

  • Finally, we show that the 14-3-3 dimer binds tightly to single molecules containing tandem repeats of phosphoserine motifs, implicating bidentate association as a signaling mechanism with molecules such as Raf, BAD, and Cbl [30].
  • The functional importance of these repeat motifs is shown by the fact that five of the spe-26 mutations are in the tandem repeats, and one of the most severe mutations is a substitution in a highly conserved glycine [31].
  • The cDNA sequence of this 884-bp fragment was determined, and revealed a tandem repeat structure rich in threonine and proline residues [4].
  • The LGI1 protein has leucine-rich repeats in the N-terminal sequence and a tandem repeat (which we named EPTP) in its C-terminal region [32].
  • C2 domains are widespread protein modules that often occur as tandem repeats in many membrane-trafficking proteins such as synaptotagmin and rabphilin [33].

Gene context of Tandem Repeat Sequences


Analytical, diagnostic and therapeutic context of Tandem Repeat Sequences


  1. Ovarian cancer risk in BRCA1 carriers is modified by the HRAS1 variable number of tandem repeat (VNTR) locus. Phelan, C.M., Rebbeck, T.R., Weber, B.L., Devilee, P., Ruttledge, M.H., Lynch, H.T., Lenoir, G.M., Stratton, M.R., Easton, D.F., Ponder, B.A., Cannon-Albright, L., Larsson, C., Goldgar, D.E., Narod, S.A. Nat. Genet. (1996) [Pubmed]
  2. Cancer-associated MUC1 mucin inhibits human T-cell proliferation, which is reversible by IL-2. Agrawal, B., Krantz, M.J., Reddish, M.A., Longenecker, B.M. Nat. Med. (1998) [Pubmed]
  3. Insulin-IGF2 region on chromosome 11p encodes a gene implicated in HLA-DR4-dependent diabetes susceptibility. Julier, C., Hyer, R.N., Davies, J., Merlin, F., Soularue, P., Briant, L., Cathelineau, G., Deschamps, I., Rotter, J.I., Froguel, P. Nature (1991) [Pubmed]
  4. The core polypeptide of cystic fibrosis tracheal mucin contains a tandem repeat structure. Evidence for a common mucin in airway and gastrointestinal tissue. Gerard, C., Eddy, R.L., Shows, T.B. J. Clin. Invest. (1990) [Pubmed]
  5. Development of antigen-specific ELISA for circulating autoantibodies to extracellular matrix protein 1 in lichen sclerosus. Oyama, N., Chan, I., Neill, S.M., South, A.P., Wojnarowska, F., Kawakami, Y., D'Cruz, D., Mepani, K., Hughes, G.J., Bhogal, B.S., Kaneko, F., Black, M.M., McGrath, J.A. J. Clin. Invest. (2004) [Pubmed]
  6. The Tudor domain 'Royal Family': Tudor, plant Agenet, Chromo, PWWP and MBT domains. Maurer-Stroh, S., Dickens, N.J., Hughes-Davies, L., Kouzarides, T., Eisenhaber, F., Ponting, C.P. Trends Biochem. Sci. (2003) [Pubmed]
  7. Population genetic studies on nine tetrameric short tandem repeat loci using fluorescence dye-labeled primers and capillary electrophoresis in the Austrian population. Klintschar, M., Ebner, A., Reichenpfader, B. Electrophoresis (1999) [Pubmed]
  8. Dopamine D4 receptors and the risk of cigarette smoking in African-Americans and Caucasians. Shields, P.G., Lerman, C., Audrain, J., Bowman, E.D., Main, D., Boyd, N.R., Caporaso, N.E. Cancer Epidemiol. Biomarkers Prev. (1998) [Pubmed]
  9. Serotonin transporter (5-HTT) gene and bipolar affective disorder. Esterling, L.E., Yoshikawa, T., Turner, G., Badner, J.A., Bengel, D., Gershon, E.S., Berrettini, W.H., Detera-Wadleigh, S.D. Am. J. Med. Genet. (1998) [Pubmed]
  10. Association study of serotonin transporter gene VNTR polymorphism and mood disorders, onset age and suicide attempts in a Chinese sample. Yen, F.C., Hong, C.J., Hou, S.J., Wang, J.K., Tsai, S.J. Neuropsychobiology (2003) [Pubmed]
  11. Cellular and molecular biology of the aquaporin water channels. Borgnia, M., Nielsen, S., Engel, A., Agre, P. Annu. Rev. Biochem. (1999) [Pubmed]
  12. Respiratory tract mucin genes and mucin glycoproteins in health and disease. Rose, M.C., Voynow, J.A. Physiol. Rev. (2006) [Pubmed]
  13. Homozygous L-SIGN (CLEC4M) plays a protective role in SARS coronavirus infection. Chan, V.S., Chan, K.Y., Chen, Y., Poon, L.L., Cheung, A.N., Zheng, B., Chan, K.H., Mak, W., Ngan, H.Y., Xu, X., Screaton, G., Tam, P.K., Austyn, J.M., Chan, L.C., Yip, S.P., Peiris, M., Khoo, U.S., Lin, C.L. Nat. Genet. (2006) [Pubmed]
  14. Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome. Hearn, T., Renforth, G.L., Spalluto, C., Hanley, N.A., Piper, K., Brickwood, S., White, C., Connolly, V., Taylor, J.F., Russell-Eggitt, I., Bonneau, D., Walker, M., Wilson, D.I. Nat. Genet. (2002) [Pubmed]
  15. Requirement of multiple copies of a 21-nucleotide sequence in the U3 regions of human T-cell leukemia virus type I and type II long terminal repeats for trans-acting activation of transcription. Shimotohno, K., Takano, M., Teruuchi, T., Miwa, M. Proc. Natl. Acad. Sci. U.S.A. (1986) [Pubmed]
  16. A glial-specific, repressible, adenovirus vector for brain tumor gene therapy. Chen, J., Bezdek, T., Chang, J., Kherzai, A.W., Willingham, T., Azzara, M., Nisen, P.D. Cancer Res. (1998) [Pubmed]
  17. Novel protein domains and repeats in Drosophila melanogaster: insights into structure, function, and evolution. Ponting, C.P., Mott, R., Bork, P., Copley, R.R. Genome Res. (2001) [Pubmed]
  18. The insulin gene variable number tandem repeat class I/III polymorphism is in linkage disequilibrium with birth weight but not Type 2 diabetes in the Pima population. Lindsay, R.S., Hanson, R.L., Wiedrich, C., Knowler, W.C., Bennett, P.H., Baier, L.J. Diabetes (2003) [Pubmed]
  19. Slight changes in conditions influence the family of non-B-DNA conformations of the herpes simplex virus type 1 DR2 repeats. Wohlrab, F., Wells, R.D. J. Biol. Chem. (1989) [Pubmed]
  20. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Meindl, A., Dry, K., Herrmann, K., Manson, F., Ciccodicola, A., Edgar, A., Carvalho, M.R., Achatz, H., Hellebrand, H., Lennon, A., Migliaccio, C., Porter, K., Zrenner, E., Bird, A., Jay, M., Lorenz, B., Wittwer, B., D'Urso, M., Meitinger, T., Wright, A. Nat. Genet. (1996) [Pubmed]
  21. A fused mitochondrial gene associated with cytoplasmic male sterility is developmentally regulated. Young, E.G., Hanson, M.R. Cell (1987) [Pubmed]
  22. A complex mutable polymorphism located within the fragile X gene. Zhong, N., Dobkin, C., Brown, W.T. Nat. Genet. (1993) [Pubmed]
  23. mRNA transcripts related to full-length endogenous retroviral DNA in human cells. Rabson, A.B., Steele, P.E., Garon, C.F., Martin, M.A. Nature (1983) [Pubmed]
  24. The Smu tandem repeat region is critical for Ig isotype switching in the absence of Msh2. Min, I.M., Schrader, C.E., Vardo, J., Luby, T.M., D'Avirro, N., Stavnezer, J., Selsing, E. Immunity (2003) [Pubmed]
  25. Switch recombination breakpoints are strictly correlated with DNA recognition motifs for immunoglobulin S gamma 3 DNA-binding proteins. Wuerffel, R., Jamieson, C.E., Morgan, L., Merkulov, G.V., Sen, R., Kenter, A.L. J. Exp. Med. (1992) [Pubmed]
  26. Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency. Schmalstieg, F.C., Leonard, W.J., Noguchi, M., Berg, M., Rudloff, H.E., Denney, R.M., Dave, S.K., Brooks, E.G., Goldman, A.S. J. Clin. Invest. (1995) [Pubmed]
  27. Expression of tumor-associated epitopes on Epstein-Barr virus-immortalized B-cells and Burkitt's lymphomas transfected with epithelial mucin complementary DNA. Jerome, K.R., Bu, D., Finn, O.J. Cancer Res. (1992) [Pubmed]
  28. N-acetylgalactosamine glycosylation of MUC1 tandem repeat peptides by pancreatic tumor cell extracts. Nishimori, I., Perini, F., Mountjoy, K.P., Sanderson, S.D., Johnson, N., Cerny, R.L., Gross, M.L., Fontenot, J.D., Hollingsworth, M.A. Cancer Res. (1994) [Pubmed]
  29. Site-specific core 1 O-glycosylation pattern of the porcine submaxillary gland mucin tandem repeat. Evidence for the modulation of glycan length by peptide sequence. Gerken, T.A., Owens, C.L., Pasumarthy, M. J. Biol. Chem. (1998) [Pubmed]
  30. The structural basis for 14-3-3:phosphopeptide binding specificity. Yaffe, M.B., Rittinger, K., Volinia, S., Caron, P.R., Aitken, A., Leffers, H., Gamblin, S.J., Smerdon, S.J., Cantley, L.C. Cell (1997) [Pubmed]
  31. The Caenorhabditis elegans spe-26 gene is necessary to form spermatids and encodes a protein similar to the actin-associated proteins kelch and scruin. Varkey, J.P., Muhlrad, P.J., Minniti, A.N., Do, B., Ward, S. Genes Dev. (1995) [Pubmed]
  32. The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders. Staub, E., Pérez-Tur, J., Siebert, R., Nobile, C., Moschonas, N.K., Deloukas, P., Hinzmann, B. Trends Biochem. Sci. (2002) [Pubmed]
  33. Structure of the Janus-faced C2B domain of rabphilin. Ubach, J., García, J., Nittler, M.P., Südhof, T.C., Rizo, J. Nat. Cell Biol. (1999) [Pubmed]
  34. The human XIST gene: analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus. Brown, C.J., Hendrich, B.D., Rupert, J.L., Lafrenière, R.G., Xing, Y., Lawrence, J., Willard, H.F. Cell (1992) [Pubmed]
  35. The product of the mouse Xist gene is a 15 kb inactive X-specific transcript containing no conserved ORF and located in the nucleus. Brockdorff, N., Ashworth, A., Kay, G.F., McCabe, V.M., Norris, D.P., Cooper, P.J., Swift, S., Rastan, S. Cell (1992) [Pubmed]
  36. A subthreshold level of DNA topoisomerases leads to the excision of yeast rDNA as extrachromosomal rings. Kim, R.A., Wang, J.C. Cell (1989) [Pubmed]
  37. Filamin is essential in actin cytoskeletal assembly mediated by p21-activated kinase 1. Vadlamudi, R.K., Li, F., Adam, L., Nguyen, D., Ohta, Y., Stossel, T.P., Kumar, R. Nat. Cell Biol. (2002) [Pubmed]
  38. Identification and functional analysis of single nucleotide polymorphism in the tandem repeat sequence of thymidylate synthase gene. Kawakami, K., Watanabe, G. Cancer Res. (2003) [Pubmed]
  39. Human glucagon-like peptide-1 receptor gene. Localization to chromosome band 6p21 by fluorescence in situ hybridization and linkage of a highly polymorphic simple tandem repeat DNA polymorphism to other markers on chromosome 6. Stoffel, M., Espinosa, R., Le Beau, M.M., Bell, G.I. Diabetes (1993) [Pubmed]
  40. The WI-1 antigen of Blastomyces dermatitidis yeasts mediates binding to human macrophage CD11b/CD18 (CR3) and CD14. Newman, S.L., Chaturvedi, S., Klein, B.S. J. Immunol. (1995) [Pubmed]
  41. Identification of a plasminogen-binding motif in PAM, a bacterial surface protein. Wistedt, A.C., Ringdahl, U., Müller-Esterl, W., Sjøbring, U. Mol. Microbiol. (1995) [Pubmed]
  42. Structure-based design of peptides that recognize the CD4 binding domain of HIV-1 gp120. Fontenot, J.D., Tan, X., Phillips, D.M. AIDS (1998) [Pubmed]
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