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

Microsatellite Repeats

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Disease relevance of Microsatellite Repeats


Psychiatry related information on Microsatellite Repeats


High impact information on Microsatellite Repeats


Chemical compound and disease context of Microsatellite Repeats


Biological context of Microsatellite Repeats


Anatomical context of Microsatellite Repeats


Associations of Microsatellite Repeats with chemical compounds

  • We present microsatellite DNA evidence for the hypothesis that Cabernet Sauvignon is the progeny of two other Bordeaux cultivars, Cabernet franc and Sauvignon blanc [31].
  • Based on a linkage analysis of 11 families segregating for this syndrome using microsatellite repeat polymorphisms throughout the human genome, we found the Wolfram syndrome gene to be linked to markers on the short arm of human chromosome 4, with Zmax = 6.46 at theta = 0.02 for marker D4S431 [32].
  • Here we show that microsatellite genetic markers can be used to assign individual cod from three different populations in the northeastern Atlantic Ocean to their population of origin [33].
  • 363 nondiabetic Pima Indians were genotyped at 516 polymorphic microsatellite markers on all 22 autosomes [34].
  • Cox proportional hazard modeling was used to determine survival associations for microsatellite instability and 5-fluorouracil treatment status [35].

Gene context of Microsatellite Repeats

  • In yeast, mutations in several genes, including RTH and MSH3, cause microsatellite instability [36].
  • Mice that are deficient in either the Pms2 or Msh2 DNA mismatch repair genes have microsatellite instability and a predisposition to tumours [37].
  • Cells in culture stably expressing a dominant-negative MLH3 protein exhibit microsatellite instability [38].
  • Here mice deficient in another mismatch repair gene, Mlh1, possess not only microsatellite instability but are also infertile (both males and females) [37].
  • In four H-JEB kindreds, a maximum two-point lod score of 5.33 at theta = 0 was observed between a microsatellite near LAMC2 at 1q25-31 and the disease [39].

Analytical, diagnostic and therapeutic context of Microsatellite Repeats


  1. The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability. Riccio, A., Aaltonen, L.A., Godwin, A.K., Loukola, A., Percesepe, A., Salovaara, R., Masciullo, V., Genuardi, M., Paravatou-Petsotas, M., Bassi, D.E., Ruggeri, B.A., Klein-Szanto, A.J., Testa, J.R., Neri, G., Bellacosa, A. Nat. Genet. (1999) [Pubmed]
  2. Molecular predictors of survival after adjuvant chemotherapy for colon cancer. Watanabe, T., Wu, T.T., Catalano, P.J., Ueki, T., Satriano, R., Haller, D.G., Benson, A.B., Hamilton, S.R. N. Engl. J. Med. (2001) [Pubmed]
  3. Gene for familial psoriasis susceptibility mapped to the distal end of human chromosome 17q. Tomfohrde, J., Silverman, A., Barnes, R., Fernandez-Vina, M.A., Young, M., Lory, D., Morris, L., Wuepper, K.D., Stastny, P., Menter, A. Science (1994) [Pubmed]
  4. Comparison of molecular changes in lung cancers in HIV-positive and HIV-indeterminate subjects. Wistuba, I.I., Behrens, C., Milchgrub, S., Virmani, A.K., Jagirdar, J., Thomas, B., Ioachim, H.L., Litzky, L.A., Brambilla, E.M., Minna, J.D., Gazdar, A.F. JAMA (1998) [Pubmed]
  5. Mutations in the APC tumour suppressor gene cause chromosomal instability. Fodde, R., Kuipers, J., Rosenberg, C., Smits, R., Kielman, M., Gaspar, C., van Es, J.H., Breukel, C., Wiegant, J., Giles, R.H., Clevers, H. Nat. Cell Biol. (2001) [Pubmed]
  6. The corticotropin-releasing hormone gene and behavioral inhibition in children at risk for panic disorder. Smoller, J.W., Yamaki, L.H., Fagerness, J.A., Biederman, J., Racette, S., Laird, N.M., Kagan, J., Snidman, N., Faraone, S.V., Hirshfeld-Becker, D., Tsuang, M.T., Slaugenhaupt, S.A., Rosenbaum, J.F., Sklar, P.B. Biol. Psychiatry (2005) [Pubmed]
  7. No association of a tyrosine hydroxylase gene tetranucleotide repeat polymorphism in autism, Tourette syndrome, or ADHD. Comings, D.E., Gade, R., Muhleman, D., Sverd, J. Biol. Psychiatry (1995) [Pubmed]
  8. Analysis and metaanalysis of two polymorphisms within the tyrosine hydroxylase gene in bipolar and unipolar affective disorders. Furlong, R.A., Rubinsztein, J.S., Ho, L., Walsh, C., Coleman, T.A., Muir, W.J., Paykel, E.S., Blackwood, D.H., Rubinsztein, D.C. Am. J. Med. Genet. (1999) [Pubmed]
  9. The CCTTT polymorphism in the NOS2A gene is associated with dementia with Lewy bodies. Xu, W., Liu, L., Emson, P., Harrington, C.R., McKeith, I.G., Perry, R.H., Morris, C.M., Charles, I.G. Neuroreport (2000) [Pubmed]
  10. Triplet repeat polymorphism within the NOTCH4 gene located near the junction of the HLA class II and class III regions in narcolepsy. Ando, A., Shigenari, A., Naruse, T.K., Sugaya, K., Juji, T., Honda, Y., Ikemura, T., Inoko, H. Tissue Antigens (1997) [Pubmed]
  11. Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. Grant, S.F., Thorleifsson, G., Reynisdottir, I., Benediktsson, R., Manolescu, A., Sainz, J., Helgason, A., Stefansson, H., Emilsson, V., Helgadottir, A., Styrkarsdottir, U., Magnusson, K.P., Walters, G.B., Palsdottir, E., Jonsdottir, T., Gudmundsdottir, T., Gylfason, A., Saemundsdottir, J., Wilensky, R.L., Reilly, M.P., Rader, D.J., Bagger, Y., Christiansen, C., Gudnason, V., Sigurdsson, G., Thorsteinsdottir, U., Gulcher, J.R., Kong, A., Stefansson, K. Nat. Genet. (2006) [Pubmed]
  12. Positional cloning of a novel gene influencing asthma from chromosome 2q14. Allen, M., Heinzmann, A., Noguchi, E., Abecasis, G., Broxholme, J., Ponting, C.P., Bhattacharyya, S., Tinsley, J., Zhang, Y., Holt, R., Jones, E.Y., Lench, N., Carey, A., Jones, H., Dickens, N.J., Dimon, C., Nicholls, R., Baker, C., Xue, L., Townsend, E., Kabesch, M., Weiland, S.K., Carr, D., von Mutius, E., Adcock, I.M., Barnes, P.J., Lathrop, G.M., Edwards, M., Moffatt, M.F., Cookson, W.O. Nat. Genet. (2003) [Pubmed]
  13. A polymorphic microsatellite that mediates induction of PIG3 by p53. Contente, A., Dittmer, A., Koch, M.C., Roth, J., Dobbelstein, M. Nat. Genet. (2002) [Pubmed]
  14. Molecular pathogenesis of human hepatocellular carcinoma. Thorgeirsson, S.S., Grisham, J.W. Nat. Genet. (2002) [Pubmed]
  15. Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility. Rovio, A.T., Marchington, D.R., Donat, S., Schuppe, H.C., Abel, J., Fritsche, E., Elliott, D.J., Laippala, P., Ahola, A.L., McNay, D., Harrison, R.F., Hughes, B., Barrett, T., Bailey, D.M., Mehmet, D., Jequier, A.M., Hargreave, T.B., Kao, S.H., Cummins, J.M., Barton, D.E., Cooke, H.J., Wei, Y.H., Wichmann, L., Poulton, J., Jacobs, H.T. Nat. Genet. (2001) [Pubmed]
  16. Microsatellite instability in sporadic endometrial carcinoma. Duggan, B.D., Felix, J.C., Muderspach, L.I., Tourgeman, D., Zheng, J., Shibata, D. J. Natl. Cancer Inst. (1994) [Pubmed]
  17. Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects. Periquet, M., Lücking, C., Vaughan, J., Bonifati, V., Dürr, A., De Michele, G., Horstink, M., Farrer, M., Illarioshkin, S.N., Pollak, P., Borg, M., Brefel-Courbon, C., Denefle, P., Meco, G., Gasser, T., Breteler, M.M., Wood, N., Agid, Y., Brice, A. Am. J. Hum. Genet. (2001) [Pubmed]
  18. Mismatch repair proteins are activators of toxic responses to chromium-DNA damage. Peterson-Roth, E., Reynolds, M., Quievryn, G., Zhitkovich, A. Mol. Cell. Biol. (2005) [Pubmed]
  19. 8-Hydroxyguanosine repair is defective in some microsatellite stable colorectal cancer cells. Parker, A.R., O'Meally, R.N., Oliver, D.H., Hua, L., Nelson, W.G., DeWeese, T.L., Eshleman, J.R. Cancer Res. (2002) [Pubmed]
  20. Mutational analysis of the transforming growth factor beta receptor type II gene in human ovarian carcinoma. Lynch, M.A., Nakashima, R., Song, H., DeGroff, V.L., Wang, D., Enomoto, T., Weghorst, C.M. Cancer Res. (1998) [Pubmed]
  21. Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. Angrist, M., Bolk, S., Halushka, M., Lapchak, P.A., Chakravarti, A. Nat. Genet. (1996) [Pubmed]
  22. A full genome search in multiple sclerosis. Ebers, G.C., Kukay, K., Bulman, D.E., Sadovnick, A.D., Rice, G., Anderson, C., Armstrong, H., Cousin, K., Bell, R.B., Hader, W., Paty, D.W., Hashimoto, S., Oger, J., Duquette, P., Warren, S., Gray, T., O'Connor, P., Nath, A., Auty, A., Metz, L., Francis, G., Paulseth, J.E., Murray, T.J., Pryse-Phillips, W., Nelson, R., Freedman, M., Brunet, D., Bouchard, J.P., Hinds, D., Risch, N. Nat. Genet. (1996) [Pubmed]
  23. Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen. Zerres, K., Mücher, G., Bachner, L., Deschennes, G., Eggermann, T., Kääriäinen, H., Knapp, M., Lennert, T., Misselwitz, J., von Mühlendahl, K.E. Nat. Genet. (1994) [Pubmed]
  24. Adaptive evolution of the tumour suppressor BRCA1 in humans and chimpanzees. Australian Breast Cancer Family Study. Huttley, G.A., Easteal, S., Southey, M.C., Tesoriero, A., Giles, G.G., McCredie, M.R., Hopper, J.L., Venter, D.J. Nat. Genet. (2000) [Pubmed]
  25. The ovine Booroola fecundity gene (FecB) is linked to markers from a region of human chromosome 4q. Montgomery, G.W., Crawford, A.M., Penty, J.M., Dodds, K.G., Ede, A.J., Henry, H.M., Pierson, C.A., Lord, E.A., Galloway, S.M., Schmack, A.E. Nat. Genet. (1993) [Pubmed]
  26. A role for p300/CREB binding protein genes in promoting cancer progression in colon cancer cell lines with microsatellite instability. Ionov, Y., Matsui, S., Cowell, J.K. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  27. Repopulating defect of mismatch repair-deficient hematopoietic stem cells. Reese, J.S., Liu, L., Gerson, S.L. Blood (2003) [Pubmed]
  28. Microsatellite instability, apoptosis, and loss of p53 function in drug-resistant tumor cells. Anthoney, D.A., McIlwrath, A.J., Gallagher, W.M., Edlin, A.R., Brown, R. Cancer Res. (1996) [Pubmed]
  29. Down-regulation of the KAI1 metastasis suppressor gene during the progression of human prostatic cancer infrequently involves gene mutation or allelic loss. Dong, J.T., Suzuki, H., Pin, S.S., Bova, G.S., Schalken, J.A., Isaacs, W.B., Barrett, J.C., Isaacs, J.T. Cancer Res. (1996) [Pubmed]
  30. Genetic and epigenetic alterations in normal bladder epithelium in patients with metachronous bladder cancer. Muto, S., Horie, S., Takahashi, S., Tomita, K., Kitamura, T. Cancer Res. (2000) [Pubmed]
  31. The parentage of a classic wine grape, Cabernet Sauvignon. Bowers, J.E., Meredith, C.P. Nat. Genet. (1997) [Pubmed]
  32. Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4. Polymeropoulos, M.H., Swift, R.G., Swift, M. Nat. Genet. (1994) [Pubmed]
  33. Fisheries. Population of origin of Atlantic cod. Nielsen, E.E., Hansen, M.M., Schmidt, C., Meldrup, D., Grønkjaer, P. Nature (2001) [Pubmed]
  34. An autosomal genomic scan for loci linked to prediabetic phenotypes in Pima Indians. Pratley, R.E., Thompson, D.B., Prochazka, M., Baier, L., Mott, D., Ravussin, E., Sakul, H., Ehm, M.G., Burns, D.K., Foroud, T., Garvey, W.T., Hanson, R.L., Knowler, W.C., Bennett, P.H., Bogardus, C. J. Clin. Invest. (1998) [Pubmed]
  35. Use of 5-fluorouracil and survival in patients with microsatellite-unstable colorectal cancer. Carethers, J.M., Smith, E.J., Behling, C.A., Nguyen, L., Tajima, A., Doctolero, R.T., Cabrera, B.L., Goel, A., Arnold, C.A., Miyai, K., Boland, C.R. Gastroenterology (2004) [Pubmed]
  36. Mutation of MSH3 in endometrial cancer and evidence for its functional role in heteroduplex repair. Risinger, J.I., Umar, A., Boyd, J., Berchuck, A., Kunkel, T.A., Barrett, J.C. Nat. Genet. (1996) [Pubmed]
  37. Involvement of mouse Mlh1 in DNA mismatch repair and meiotic crossing over. Baker, S.M., Plug, A.W., Prolla, T.A., Bronner, C.E., Harris, A.C., Yao, X., Christie, D.M., Monell, C., Arnheim, N., Bradley, A., Ashley, T., Liskay, R.M. Nat. Genet. (1996) [Pubmed]
  38. MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability. Lipkin, S.M., Wang, V., Jacoby, R., Banerjee-Basu, S., Baxevanis, A.D., Lynch, H.T., Elliott, R.M., Collins, F.S. Nat. Genet. (2000) [Pubmed]
  39. Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5). Aberdam, D., Galliano, M.F., Vailly, J., Pulkkinen, L., Bonifas, J., Christiano, A.M., Tryggvason, K., Uitto, J., Epstein, E.H., Ortonne, J.P. Nat. Genet. (1994) [Pubmed]
  40. Carrier detection in families with properdin deficiency by microsatellite haplotyping. Kölble, K., Cant, A.J., Fay, A.C., Whaley, K., Schlesinger, M., Reid, K.B. J. Clin. Invest. (1993) [Pubmed]
  41. Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation. Gallinger, S., Aronson, M., Shayan, K., Ratcliffe, E.M., Gerstle, J.T., Parkin, P.C., Rothenmund, H., Croitoru, M., Baumann, E., Durie, P.R., Weksberg, R., Pollett, A., Riddell, R.H., Ngan, B.Y., Cutz, E., Lagarde, A.E., Chan, H.S. Gastroenterology (2004) [Pubmed]
  42. A new method for isolating colonocytes from naturally evacuated feces and its clinical application to colorectal cancer diagnosis. Matsushita, H., Matsumura, Y., Moriya, Y., Akasu, T., Fujita, S., Yamamoto, S., Onouchi, S., Saito, N., Sugito, M., Ito, M., Kozu, T., Minowa, T., Nomura, S., Tsunoda, H., Kakizoe, T. Gastroenterology (2005) [Pubmed]
  43. Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy. Quan, F., Janas, J., Toth-Fejel, S., Johnson, D.B., Wolford, J.K., Popovich, B.W. Am. J. Hum. Genet. (1997) [Pubmed]
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