The FMR–1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation

@article{Devys1993TheFP,
  title={The FMR–1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation},
  author={Didier Devys and Yves Lutz and Nicolas Rouyer and J. P. Bellocq and Jean-Louis Mandel},
  journal={Nature Genetics},
  year={1993},
  volume={4},
  pages={335-340}
}
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 monoclonal antibodies specific for the FMR–1 protein. They detect 4–5 protein bands which appear identical in cells of normal males and of males carrying a premutation, but are absent in affected males with a… CONTINUE READING
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