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Eur J Hum Genet. 1997 Sep-Oct;5(5):293-8.

FMR1 premutation allele (CGG)81 is stable in mice.

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  • 1MGC Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands.

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.

PMID:
9412786
[PubMed - indexed for MEDLINE]
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