Hypermutable myotonic dystrophy CTG repeats in transgenic mice

Nature Genetics

Volumn 15, Issue 2, 1997, Pages 193-196

  Monckton, Darren G ^a,b,c   Coolbaugh, Mary I ^b   Ashizawa, Ken T ^b   Siciliano, Michael J ^b   Caskey, C Thomas ^c,d  

^a UNIVERSITY OF GLASGOW   (United Kingdom)

^b EAST TEXAS MEDICAL CENTER   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d MERCK RESEARCH LABORATORIES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; GENE DELETION; GENE SEGREGATION; GENETIC STABILITY; MOUSE; MUTATION RATE; MYOTONIC DYSTROPHY; NONHUMAN; PRIORITY JOURNAL; TRANSGENIC MOUSE; TRINUCLEOTIDE REPEAT;

ANIMALS; FEMALE; HUMANS; MALE; MICE; MICE, TRANSGENIC; MOSAICISM; MUTATION; MYOTONIC DYSTROPHY; POLYMERASE CHAIN REACTION; TRANSGENES; TRINUCLEOTIDE REPEATS;

EID: 0031054076     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0297-193     Document Type: Article

References (30)

1. Monckton, D.G. & Caskey, C.T. Unstable triplet repeat diseases. Circulation 91, 513-520 (1995).
2. Fu, Y.H. et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255, 1256-1258 (1992).
3. Brook, J.D. et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 68, 799-808 (1992).
4. Mahadevan, M. et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 255, 1253-1255 (1992).
5. Monckton, D.G., Wong, L.-J.C., Ashizawa, T. & Caskey, C.T. Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses. Hum. Mol. Genet. 4, 1-8 (1995).
6. Wong, L.-J.C., Ashizawa, T., Monckton, D.G., Caskey, C.T. & Richards, C.S. Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent. Am. J. Hum. Genet. 56, 114-122 (1995).
7. Jansen, G. et al. Gonosomal mosaicism in myotonic dystrophy patients: Involvement of mitotic events in (CTG)n variation and selection against extreme expansion in sperm. Am. J. Hum. Genet. 54, 575-585 (1994).
8. Igarashi, S. et al. Intergenerational instability of the GAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat. Hum. Mol. Genet. 5, 923-932 (1996).
9. Burright, E.N. et al. SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell 82, 937-948 (1995).
10. Bingham, P.M. et al. Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice. Nature Genet. 9, 191-196 (1995).
11. Goldberg, Y.P. et al. Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington disease transcript. Hum. Mol. Genet. 5, 177-185 (1996).
12. Kawaguchi, Y. et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet. 8, 221-227 (1994).
13. Maruyama, H. et al. Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease. Hum. Mol. Genet. 4, 807-812 (1995).
14. Biancalana, V. et al. Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy. Hum. Mol. Genet. 1, 255-258 (1992).
15. Orr, HT. et al. Expansion of an unstable CAG repeat in spinocerebellar ataxia type 1. Nature Genet. 4, 221-226 (1993).
16. The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72, 971-983 (1993).
17. Koide, R. et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet. 6, 9-13 (1994).
18. Nagafuchi, S. et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12. Nature Genet. 6, 14-18 (1994).
19. Mahon, K.A., Overbeek, P.A. & Westphal, H. Prenatal lethality in a transgenic mouse line is the result of a chromosomal translocation. Proc. Natl. Acad. Sci. USA 85, 1165-1168 (1988).
20. Yu, Y.E., Nemeth, M., Pathak, S., Meistrich, M.L. & Wong, P.K. Preliminary characterization of transgenic males harboring an unbalanced product of the reciprocal translocation T(3;10). Mouse Genome (in the press).
21. Chakraborty, R. et al. Segregation Distortion of the CTG repeats at the myotonic dystrophy locus. Am. J. Hum. Genet. 59, 109-118 (1996).
22. Ikeuchi, T. et al. Non-Mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease: the mutant allele is preferentially transmitted in male meiosis. Am. J. Hum. Genet. 58, 730-733 (1996).
23. Kelly, R.G., Gibbs, M., Collick, A. & Jeffreys, A.J. Spontaneous mutation at the hypervariable mouse minisatellite locus Ms6-hm: flanking DNA sequence and analysis of germline and early somatic mutation events. Proc. R. Soc. Lon. B 245, 235-245 (1991).
24. Gibbs, M., Collick, A., Kelly, R.G. & Jeffreys, A.J. A tetranucleotide repeat mouse minisatellite displaying substantial somatic instability during early preimplantation development. Genomics 17, 121-128 (1993).
25. Collick, A. et al. Variable germline and embryonic instability of the human minisatellite MS32 (D1S8) in transgenic mice. EMBO J. 13, 5745-5753 (1994).
26. Collick, A. et al. Instability of long inverted repeats within mouse transgenes. EMBO J. 15, 1163-1171 (1996).
27. Wörhle, D., Hennig, I., Vogel, W. & Steinbach, P. Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion. Nature Genet. 4, 140-142 (1993).
28. Jeffreys, A.J., Neumann, R. & Wilson, V. Repeat unit sequence variation in minisatellites: a novel source of polymorphism for studying allelic variation and mutation by single molecule analysis. Cell 60, 473-485 (1990).
29. Pinkert, C.A. Transgenic Animal Technology: A Laboratory Handbook. (San Diego, Academic Press, 1994).
30. Henrion, A.A., Martinez, A., Mattei, M.-G., Kahn, A. & Raymondjean, M. Structure, sequence and chromosomal location of the gene for USF2 transcription factor in mouse. Genomics 25, 36-43 (1995).