FMR1 premutation allele (CGG)81 is stable in mice

C J Bontekoe; E de Graaff; I M Nieuwenhuizen; R Willemsen; Ben A Oostra

FMR1 premutation allele (CGG)81 is stable in mice

C J Bontekoe, E de Graaff, I M Nieuwenhuizen, R Willemsen, Ben A Oostra

Research output: Contribution to journal › Article › Academic › peer-review

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.

Original language	English
Pages (from-to)	293-8
Number of pages	6
Journal	European Journal of Human Genetics
Volume	5
Issue number	5
Publication status	Published - 31 Dec 1997
Externally published	Yes

Keywords

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

Cite this

@article{80a37645a5d34b14b4afe928a6d32b9b,

title = "FMR1 premutation allele (CGG)81 is stable in mice",

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.",

keywords = "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",

author = "Bontekoe, {C J} and {de Graaff}, E and Nieuwenhuizen, {I M} and R Willemsen and Oostra, {Ben A}",

year = "1997",

month = dec,

day = "31",

language = "English",

volume = "5",

pages = "293--8",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Nature Publishing Group",

number = "5",

}

TY - JOUR

T1 - FMR1 premutation allele (CGG)81 is stable in mice

AU - Bontekoe, C J

AU - de Graaff, E

AU - Nieuwenhuizen, I M

AU - Willemsen, R

AU - Oostra, Ben A

PY - 1997/12/31

Y1 - 1997/12/31

N2 - 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.

AB - 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.

KW - Alleles

KW - Animals

KW - Base Sequence

KW - DNA, Recombinant

KW - Female

KW - Fragile X Mental Retardation Protein

KW - Humans

KW - Male

KW - Mice

KW - Mice, Transgenic

KW - Molecular Sequence Data

KW - Nerve Tissue Proteins/genetics

KW - Promoter Regions, Genetic/genetics

KW - RNA-Binding Proteins

KW - Trinucleotide Repeats/genetics

M3 - Article

C2 - 9412786

SN - 1018-4813

VL - 5

SP - 293

EP - 298

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 5

ER -

FMR1 premutation allele (CGG)81 is stable in mice

Abstract

Keywords

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