Article
The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation.
Nature genetics - 1 Aug 1993
Devys D, Lutz Y, Rouyer N, Bellocq J P, Mandel J L
Abstract excerpt
Fragile X mental retardation syndrome is caused by the unstable expansion of a CGG repeat in the FMR-1 gene. In patients with a full mutation, abnormal methylation results in suppression of FMR-1 transcription. FMR-1 is expressed in many tissues but its function is unknown. We have raised monoclo...
Topics
- Amino Acid Sequence
- Animals
- Antibodies, Monoclonal
- Base Sequence
- Cell Line
- Cloning, Molecular
- DNA
- Exons
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Genetic Carrier Screening
- Humans
- Male
- Methylation
- Molecular Sequence Data
- Mutation
- Nerve Tissue Proteins
- Neurons