Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability.

@article{Seznec2000TransgenicMC,
  title={Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability.},
  author={Herv{\'e} Seznec and Anne-Sophie Lia-Baldini and Chantal Duros and Celine Fouquet and C{\'e}line Lacroix and Hl{\`e}ne Hofmann-Radvanyi and Claudine Junien and Genevi{\`e}ve Gourdon},
  journal={Human molecular genetics},
  year={2000},
  volume={9 8},
  pages={1185-94}
}
Myotonic dystrophy (DM) is caused by a CTG repeat expansion in the 3'UTR of the DM protein kinase (DMPK) gene. A very high level of instability is observed through successive generations and the size of the repeat is generally correlated with the severity of the disease and with age at onset. Furthermore, tissues from DM patients exhibit somatic mosaicism that increases with age. We generated transgenic mice carrying large human genomic sequences with 20, 55 or >300 CTG, cloned from patients… CONTINUE READING
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