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. 1997 Sep-Oct;5(5):293-8.

FMR1 premutation allele (CGG)81 is stable in mice

C J Bontekoe  1 , E de Graaff, I M Nieuwenhuizen, R Willemsen, B A Oostra
Affiliations
  • PMID: 9412786

FMR1 premutation allele (CGG)81 is stable in mice

C J Bontekoe et al. Eur J Hum Genet. 1997 Sep-Oct.

Abstract

Fragile X syndrome is caused by an expansion of the CGG repeat present in the 5' UTR of the FMR1 gene. A lot has been elucidated about the genetics of the disease, but not much is known about the mechanisms involved in repeat instability. Transgenic animals with a premutation allele [(CGG)11AGG(CGG)60CAG(CGG)8] in the human FMR1 promoter were generated to study the inheritance of this repeat in mice. Three independent lines, B6, B7 and B29, in total 263 transgenic animals, were tested for repeat instability. In all meiosis and mitosis tested, the repeat inherited stably. This suggests that other factors might be important in repeat (in)stability.

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