Mammalian Genome

, Volume 9, Issue 5, pp 392–393 | Cite as

Long CAG/CTG repeats in mice

  • Bonnie L. King
  • Giorgio Sirugo
  • Joseph H. Nadeau
  • Thomas J. Hudson
  • Kenneth K. Kidd
  • Barry M. Kacinski
  • Martin Schalling
Short Communications


Trinucleotide Repeat Myotonic Dystrophy Triplet Repeat Tract Length Mouse DNAs 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  1. Abbott C, Chambers DM (1994) Analysis of CAG trinucleotide repeats from mouse cDNA sequences. Ann Hum Genet 58, 87–94PubMedCrossRefGoogle Scholar
  2. Bates GP, Mangiarini L, Mahal A, Davies SW (1997) Transgenic models of Huntington’s disease. Hum Mol Genet 6, 1633–1637PubMedCrossRefGoogle Scholar
  3. Beckmann JS, Weber JL (1992) Survey of human and rat microsatellites. Genomics 12, 627–631CrossRefGoogle Scholar
  4. Bingham PM, Scott MO, Wang S, McPhaul MJ, Wilson EM, et al. (1995) Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice. Nat Genet 9, 191–196PubMedCrossRefGoogle Scholar
  5. Bontekoe CJM, deGraaff E, Nieuwenhuizen IM, Willemsen R, Oostra BA (1997) FMR1 premutation allele (CGG)81 is stable in mice. Eur J Hum Genet 5, 293–298PubMedGoogle Scholar
  6. Burright EN, Clark HB, Servadio A, Matilla T, Feddersen RM, et al. (1995) SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell 82, 937–948PubMedCrossRefGoogle Scholar
  7. Chambers DM, Abbott CM (1996) Isolation and mapping of novel mouse brain cDNA clones containing trinucleotide repeats, and demonstration of novel alleles in recombinant inbred strains. Genome Res 6, 715–723PubMedCrossRefGoogle Scholar
  8. Goldberg YP, Kalchman MA, Metzler M, Nasir J, Zeisler J, et al. (1996) Absence of the disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington’s disease transcript. Hum Mol Genet 5, 177–185PubMedCrossRefGoogle Scholar
  9. Gourdon G, Radvanyi F, Lia AS, Duros C, Blanche M, et al. (1997) Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice. Nat Genet 15, 190–192PubMedCrossRefGoogle Scholar
  10. Harris S, Moncrieff C, Johnson K (1996) Myotonic dystrophy: will the real gene please step forward! Hum Mol Genet 5, 1417–1423PubMedGoogle Scholar
  11. Lavedan CN, Garrett L, Nussbaum RL (1997) Trinucleotide repeats (CGG)22TGG(CGG)43TGG(CGG)21 from the fragile X gene remain stable in transgenic mice. Hum Genet 100, 407–414PubMedCrossRefGoogle Scholar
  12. Lindblad K, Lunkes A, Maciel P, Stevanin G, Zander C, et al. (1996) Mutation detection in Machado-Joseph disease using Repeat Expansion Detection. Mol Med 2, 77–85PubMedGoogle Scholar
  13. Mangiarini L, Sathasivam K, Seller M, Cozens B, Harper A, et al. (1996) Exon 1 of the Huntington’s disease gene containing a highly expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell 87, 493–506PubMedCrossRefGoogle Scholar
  14. Mangiarini L, Sathasivam K, Mathal A, Mott R, Seller M, et al. (1997) Instability of highly expanded CAG repeats in mice transgenic for the Huntington’s disease mutation. Nat Genet 15, 197–200PubMedCrossRefGoogle Scholar
  15. Maurer DJ, O’Callaghan BL, Livingston DM (1996) Orientation dependence of trinucleotide CAG repeat instability in Saccharomyces cerevisiae. Mol Cell Biol 16, 6617–6622PubMedGoogle Scholar
  16. Monckton DG, Coolbaugh MI, Ashizawa KT, Siciliano MJ, Caskey CT (1997) Hypermutable myotonic dystrophy CTG repeats in transgenic mice. Nat Genet 15, 193–196PubMedCrossRefGoogle Scholar
  17. Perutz MF (1996) Glutamine repeats and inherited neurodegenerative diseases: molecular aspects. Cur Opin Struct Biol 6, 848–858CrossRefGoogle Scholar
  18. Potter M, Nadeau JH, Cancro MP (eds) (1986) The wild mouse in immunology. Curr Top Microbiol Immunol 127, VGoogle Scholar
  19. Reddy PS, Housman EF (1997) The complex pathology of trinucleotide repeats. Curr Opin Cell Biol 9, 364–372PubMedCrossRefGoogle Scholar
  20. Rubinsztein DC, Amos W, Leggo J, Goodburn S, Jain S, Li S-H, Margolis RL, Ross CA, Ferguson-Smith MA (1995) Microsatellite evolution— evidence for directionality and variation in rate between species. Nat Genet 10, 337–343PubMedCrossRefGoogle Scholar
  21. Schalling M, Hudson TJ, Buetow KH, Housman DE (1993) Direct detection of novel expanded trinucleotide repeats in the human genome. Nat Genet 4, 135–139PubMedCrossRefGoogle Scholar
  22. Sirugo G, Kidd KK (1995) Repeat expansion detection using ampligase thermostable DNA ligase. Epicentre Forum 2, 1–3Google Scholar
  23. Sirugo G, Deinard AS, Kidd JR, Kidd KK (1997a) Survey of maximum CTG/CAG repeat lengths in humans and non-human primates: total genome scan in populations using the RED method. Hum Mol Genet 6, 403–408PubMedCrossRefGoogle Scholar
  24. Sirugo G, Pakstis AJ, Kidd KK, Matthysse S, Parnas J, Levy DL, Holzman PS, McInnis M, Breschel T, Ross CA (1997b) Detection of a large CTG/CAG trinucleotide repeat expansion in a Danish schizophrenia kindred. Am J Med Genet Neuropsychiatr Genet 74, 546–548CrossRefGoogle Scholar

Copyright information

© Springer-Verlag 1998

Authors and Affiliations

  • Bonnie L. King
    • 1
  • Giorgio Sirugo
    • 2
  • Joseph H. Nadeau
    • 3
  • Thomas J. Hudson
    • 4
    • 5
  • Kenneth K. Kidd
    • 2
  • Barry M. Kacinski
    • 1
  • Martin Schalling
    • 6
  1. 1.Department of Therapeutic Radiology, 303 Hunter Radiation BldgYale School of MedicineNew HavenUSA
  2. 2.Department of GeneticsYale University School of MedicineNew HavenUSA
  3. 3.Department of GeneticsCase Western Reserve University School of MedicineClevelandUSA
  4. 4.Center for Genome Research, Whitehead InstituteCambridgeUSA
  5. 5.Montreal General HospitalMcGill UniversityMontrealCanada
  6. 6.Neurogenetics UnitKarolinska Hospital L8:00StockholmSweden

Personalised recommendations