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

Minisatellite Repeats

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Disease relevance of Minisatellite Repeats


Psychiatry related information on Minisatellite Repeats


High impact information on Minisatellite Repeats


Chemical compound and disease context of Minisatellite Repeats


Biological context of Minisatellite Repeats


Anatomical context of Minisatellite Repeats

  • Allelic variation at this VNTR locus correlates with steady-state levels of INS mRNA in pancreas and transfected rodent cell lines, but it is difficult to reconcile the association of lower INS mRNA levels in the pancreas with class III VNTRs that are dominantly protective from IDDM [20].
  • Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus [21].
  • To study the possible relation of MC with relapse, we purified different populations of leukocytes and analyzed their donor/recipient origin by a method based on polymerase chain reaction amplification of minisatellite DNA regions [22].
  • Search for maternal cells in human umbilical cord blood by polymerase chain reaction amplification of two minisatellite sequences [23].
  • We used polymerase chain reaction amplification of minisatellite sequences (33.6.3, MS51, YNZ22) and of a Y chromosome-specific sequence (DYZ1) to document prospectively chimerism in 23 leukemia patients grafted with non T-cell depleted marrows from HLA-identical sibling donors [24].

Associations of Minisatellite Repeats with chemical compounds

  • The VNTR region is associated with a SINE (short interspersed sequence)-type retroposon, SINE-R.C2, located within the third intron of the C2 gene [3].
  • We used the transmission-disequilibrium test (TDT) method to test for linkage disequilibrium between a specific allele (the seven-repeat allele (DRD4*7R) of the exon 3 VNTR polymorphic site) at the D4 dopamine receptor locus (DRD4) and expression of chronic multiple tics and TS [25].
  • Elsewhere we have reported an efficient method for isolating VNTR (Variable Number of Tandem Repeats) markers [26].
  • In two-dimensional (2-D) DNA typing, genomic DNA fragments are separated, first according to size by electrophoresis in a neutral polyacrylamide gel and second according to sequence by denaturing gradient gel electrophoresis, followed by hybridization analysis using micro- and minisatellite core probes [27].
  • We demonstrate a robust association between cocaine dependence and a VNTR allele in SLC6A3, conferring a small but detectable effect, and we show that this VNTR may be functional [28].

Gene context of Minisatellite Repeats

  • Functional studies indicate, firstly, that the susceptible and protective HLA class II molecules HLA-DR and -DQ bind and present nonoverlapping peptides and, secondly, that the variable number of tandem repeats at the 5' end of the insulin gene (susceptibility interval IDDM2) regulates insulin expression in the thymus [29].
  • We examined the effects of mutations in the Saccharomyces cerevisiae RAD27 (encoding a nuclease involved in the processing of Okazaki fragments) and POL3 (encoding DNA polymerase delta) genes on the stability of a minisatellite sequence (20-bp repeats) and microsatellites (1- to 8-bp repeat units) [30].
  • Saccharomyces cerevisiae RAD5-encoded DNA repair protein contains DNA helicase and zinc-binding sequence motifs and affects the stability of simple repetitive sequences in the genome [31].
  • The rarer alleles of IL-4 VNTR and IL-1B (-511) appear to be associated with a less severe course in RA of long duration [32].
  • Here, we describe linkage investigations of the VNTR and ADHD in affected sibling pair (ASP) families and singleton families using both the transmission disequilibrium test (TDT) and a mean test of identity-by-descent (IBD) sharing [33].

Analytical, diagnostic and therapeutic context of Minisatellite Repeats


  1. Paternal transmission of the very common class I INS VNTR alleles predisposes to childhood obesity. Le Stunff, C., Fallin, D., Bougnères, P. Nat. Genet. (2001) [Pubmed]
  2. Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1. Virtaneva, K., D'Amato, E., Miao, J., Koskiniemi, M., Norio, R., Avanzini, G., Franceschetti, S., Michelucci, R., Tassinari, C.A., Omer, S., Pennacchio, L.A., Myers, R.M., Dieguez-Lucena, J.L., Krahe, R., de la Chapelle, A., Lehesjoki, A.E. Nat. Genet. (1997) [Pubmed]
  3. A variable number of tandem repeats locus within the human complement C2 gene is associated with a retroposon derived from a human endogenous retrovirus. Zhu, Z.B., Hsieh, S.L., Bentley, D.R., Campbell, R.D., Volanakis, J.E. J. Exp. Med. (1992) [Pubmed]
  4. Re: HRAS1 rare minisatellite alleles and breast cancer in Australian women under age forty years. Krontiris, T.G. J. Natl. Cancer Inst. (2000) [Pubmed]
  5. Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene. Goltsov, A.A., Eisensmith, R.C., Konecki, D.S., Lichter-Konecki, U., Woo, S.L. Am. J. Hum. Genet. (1992) [Pubmed]
  6. A serotonin transporter gene intron 2 polymorphic region, correlated with affective disorders, has allele-dependent differential enhancer-like properties in the mouse embryo. MacKenzie, A., Quinn, J. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  7. Association between bipolar disorder and monoamine oxidase A gene polymorphisms: results of a multicenter study. Preisig, M., Bellivier, F., Fenton, B.T., Baud, P., Berney, A., Courtet, P., Hardy, P., Golaz, J., Leboyer, M., Mallet, J., Matthey, M.L., Mouthon, D., Neidhart, E., Nosten-Bertrand, M., Stadelmann-Dubuis, E., Guimon, J., Ferrero, F., Buresi, C., Malafosse, A. The American journal of psychiatry. (2000) [Pubmed]
  8. A functional polymorphism in the promoter region of monoamine oxidase-A gene and mood disorders. Kunugi, H., Ishida, S., Kato, T., Tatsumi, M., Sakai, T., Hattori, M., Hirose, T., Nanko, S. Mol. Psychiatry (1999) [Pubmed]
  9. Association analysis of the dopamine D4 gene exon III VNTR and heroin abuse in Chinese subjects. Li, T., Xu, K., Deng, H., Cai, G., Liu, J., Liu, X., Wang, R., Xiang, X., Zhao, J., Murray, R.M., Sham, P.C., Collier, D.A. Mol. Psychiatry (1997) [Pubmed]
  10. Dopamine D4 receptor 48-bp repeat polymorphism: no association with response to antipsychotic treatment, but association with catatonic schizophrenia. Kaiser, R., Könneker, M., Henneken, M., Dettling, M., Müller-Oerlinghausen, B., Roots, I., Brockmöller, J. Mol. Psychiatry (2000) [Pubmed]
  11. Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. Raeder, H., Johansson, S., Holm, P.I., Haldorsen, I.S., Mas, E., Sbarra, V., Nermoen, I., Eide, S.A., Grevle, L., Bjørkhaug, L., Sagen, J.V., Aksnes, L., Søvik, O., Lombardo, D., Molven, A., Njølstad, P.R. Nat. Genet. (2006) [Pubmed]
  12. A variable number of tandem repeats polymorphism in an E2F-1 binding element in the 5' flanking region of SMYD3 is a risk factor for human cancers. Tsuge, M., Hamamoto, R., Silva, F.P., Ohnishi, Y., Chayama, K., Kamatani, N., Furukawa, Y., Nakamura, Y. Nat. Genet. (2005) [Pubmed]
  13. Meiotic instability of human minisatellite CEB1 in yeast requires DNA double-strand breaks. Debrauwère, H., Buard, J., Tessier, J., Aubert, D., Vergnaud, G., Nicolas, A. Nat. Genet. (1999) [Pubmed]
  14. Single nucleotide polymorphism in the 5' tandem repeat sequences of thymidylate synthase gene predicts for response to fluorouracil-based chemotherapy in advanced colorectal cancer patients. Marcuello, E., Altés, A., del Rio, E., César, A., Menoyo, A., Baiget, M. Int. J. Cancer (2004) [Pubmed]
  15. P-selectin glycoprotein ligand-1 variable number of tandem repeats (VNTR) polymorphism in patients with multiple sclerosis. Scalabrini, D., Galimberti, D., Fenoglio, C., Comi, C., De Riz, M., Venturelli, E., Castelli, L., Piccio, L., Ronzoni, M., Lovati, C., Mariani, C., Monaco, F., Bresolin, N., Scarpini, E. Neurosci. Lett. (2005) [Pubmed]
  16. Association analysis of 5HT transporter gene in bipolar disorder in the Indian population. Saleem, Q., Ganesh, S., Vijaykumar, M., Reddy, Y.C., Brahmachari, S.K., Jain, S. Am. J. Med. Genet. (2000) [Pubmed]
  17. Gene-gene interaction between the cystathionine beta-synthase 31 base pair variable number of tandem repeats and the methylenetetrahydrofolate reductase 677C > T polymorphism on homocysteine levels and risk for neural tube defects. Afman, L.A., Lievers, K.J., Kluijtmans, L.A., Trijbels, F.J., Blom, H.J. Mol. Genet. Metab. (2003) [Pubmed]
  18. The insulin gene VNTR is associated with fasting insulin levels and development of juvenile obesity. Le Stunff, C., Fallin, D., Schork, N.J., Bougnères, P. Nat. Genet. (2000) [Pubmed]
  19. Association of the INS VNTR with size at birth. ALSPAC Study Team. Avon Longitudinal Study of Pregnancy and Childhood. Dunger, D.B., Ong, K.K., Huxtable, S.J., Sherriff, A., Woods, K.A., Ahmed, M.L., Golding, J., Pembrey, M.E., Ring, S., Bennett, S.T., Todd, J.A. Nat. Genet. (1998) [Pubmed]
  20. The insulin gene is transcribed in the human thymus and transcription levels correlated with allelic variation at the INS VNTR-IDDM2 susceptibility locus for type 1 diabetes. Pugliese, A., Zeller, M., Fernandez, A., Zalcberg, L.J., Bartlett, R.J., Ricordi, C., Pietropaolo, M., Eisenbarth, G.S., Bennett, S.T., Patel, D.D. Nat. Genet. (1997) [Pubmed]
  21. Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus. Vafiadis, P., Bennett, S.T., Todd, J.A., Nadeau, J., Grabs, R., Goodyer, C.G., Wickramasinghe, S., Colle, E., Polychronakos, C. Nat. Genet. (1997) [Pubmed]
  22. Characterization of mixed chimerism in patients with chronic myeloid leukemia transplanted with T-cell-depleted bone marrow: involvement of different hematologic lineages before and after relapse. Roux, E., Abdi, K., Speiser, D., Helg, C., Chapuis, B., Jeannet, M., Roosnek, E. Blood (1993) [Pubmed]
  23. Search for maternal cells in human umbilical cord blood by polymerase chain reaction amplification of two minisatellite sequences. Socié, G., Gluckman, E., Carosella, E., Brossard, Y., Lafon, C., Brison, O. Blood (1994) [Pubmed]
  24. Detection of recipient cells after non T-cell depleted bone marrow transplantation for leukemia by PCR amplification of minisatellites or of a Y chromosome marker has a different prognostic value. Landman-Parker, J., Socie, G., Petit, T., Raynal, B., Bourhis, J.H., Pico, J., Brison, O. Leukemia (1994) [Pubmed]
  25. Linkage disequilibrium between an allele at the dopamine D4 receptor locus and Tourette syndrome, by the transmission-disequilibrium test. Grice, D.E., Leckman, J.F., Pauls, D.L., Kurlan, R., Kidd, K.K., Pakstis, A.J., Chang, F.M., Buxbaum, J.D., Cohen, D.J., Gelernter, J. Am. J. Hum. Genet. (1996) [Pubmed]
  26. New approach for isolation of VNTR markers. Nakamura, Y., Carlson, M., Krapcho, K., Kanamori, M., White, R. Am. J. Hum. Genet. (1988) [Pubmed]
  27. Linkage analysis by two-dimensional DNA typing. te Meerman, G.J., Mullaart, E., van der Meulen, M.A., den Daas, J.H., Morolli, B., Uitterlinden, A.G., Vijg, J. Am. J. Hum. Genet. (1993) [Pubmed]
  28. A dopamine transporter gene functional variant associated with cocaine abuse in a Brazilian sample. Guindalini, C., Howard, M., Haddley, K., Laranjeira, R., Collier, D., Ammar, N., Craig, I., O'Gara, C., Bubb, V.J., Greenwood, T., Kelsoe, J., Asherson, P., Murray, R.M., Castelo, A., Quinn, J.P., Vallada, H., Breen, G. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  29. Genetic susceptibility factors in type 1 diabetes: linkage, disequilibrium and functional analyses. She, J.X., Marron, M.P. Curr. Opin. Immunol. (1998) [Pubmed]
  30. Destabilization of yeast micro- and minisatellite DNA sequences by mutations affecting a nuclease involved in Okazaki fragment processing (rad27) and DNA polymerase delta (pol3-t). Kokoska, R.J., Stefanovic, L., Tran, H.T., Resnick, M.A., Gordenin, D.A., Petes, T.D. Mol. Cell. Biol. (1998) [Pubmed]
  31. Saccharomyces cerevisiae RAD5-encoded DNA repair protein contains DNA helicase and zinc-binding sequence motifs and affects the stability of simple repetitive sequences in the genome. Johnson, R.E., Henderson, S.T., Petes, T.D., Prakash, S., Bankmann, M., Prakash, L. Mol. Cell. Biol. (1992) [Pubmed]
  32. Association of interleukin-4 and interleukin-1B gene variants with Larsen score progression in rheumatoid arthritis. Genevay, S., Di Giovine, F.S., Perneger, T.V., Silvestri, T., Stingelin, S., Duff, G., Guerne, P.A. Arthritis Rheum. (2002) [Pubmed]
  33. Evidence that the dopamine D4 receptor is a susceptibility gene in attention deficit hyperactivity disorder. Smalley, S.L., Bailey, J.N., Palmer, C.G., Cantwell, D.P., McGough, J.J., Del'Homme, M.A., Asarnow, J.R., Woodward, J.A., Ramsey, C., Nelson, S.F. Mol. Psychiatry (1998) [Pubmed]
  34. Helicobacter pylori and interleukin 1 genotyping: an opportunity to identify high-risk individuals for gastric carcinoma. Figueiredo, C., Machado, J.C., Pharoah, P., Seruca, R., Sousa, S., Carvalho, R., Capelinha, A.F., Quint, W., Caldas, C., van Doorn, L.J., Carneiro, F., Sobrinho-Simões, M. J. Natl. Cancer Inst. (2002) [Pubmed]
  35. Interleukin 1B and interleukin 1RN polymorphisms are associated with increased risk of gastric carcinoma. Machado, J.C., Pharoah, P., Sousa, S., Carvalho, R., Oliveira, C., Figueiredo, C., Amorim, A., Seruca, R., Caldas, C., Carneiro, F., Sobrinho-Simões, M. Gastroenterology (2001) [Pubmed]
  36. Molecular analysis of lineage-specific chimerism and minimal residual disease by RT-PCR of p210(BCR-ABL) and p190(BCR-ABL) after allogeneic bone marrow transplantation for chronic myeloid leukemia: increasing mixed myeloid chimerism and p190(BCR-ABL) detection precede cytogenetic relapse. Serrano, J., Roman, J., Sanchez, J., Jimenez, A., Castillejo, J.A., Herrera, C., Gonzalez, M.G., Reina, L., Rodriguez, M.C., Alvarez, M.A., Maldonado, J., Torres, A. Blood (2000) [Pubmed]
  37. Interleukin-1 receptor antagonist genotype is associated with coronary atherosclerosis in patients with type 2 diabetes. Marculescu, R., Endler, G., Schillinger, M., Iordanova, N., Exner, M., Hayden, E., Huber, K., Wagner, O., Mannhalter, C. Diabetes (2002) [Pubmed]
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