FMR1 premutation allele (CGG)81 is stable in mice

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...

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Veröffentlicht in:	European journal of human genetics : EJHG 1997-09, Vol.5 (5), p.293-298
Hauptverfasser:	Bontekoe, C J, de Graaff, E, Nieuwenhuizen, I M, Willemsen, R, Oostra, B A
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Animals Base Sequence DNA, Recombinant Female Fragile X Mental Retardation Protein Humans Male Mice Mice, Transgenic Molecular Sequence Data Nerve Tissue Proteins - genetics Promoter Regions, Genetic - genetics RNA-Binding Proteins Trinucleotide Repeats - genetics
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Zusammenfassung:	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.
ISSN:	1018-4813
DOI:	10.1159/000484780