Abstract
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 full mutation. Immunohistochemistry shows a cytoplasmic localization of FMR–1. The highest levels were observed in neurons, while glial cells contain very low levels. In epithelial tissues, levels of FMR–1 were higher in dividing layers. In adult testis, FMR–1 was detected only in spermatogonia. FMR–1 was not detected in dermis and cardiac muscle except under pathological conditions.
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Devys, D., Lutz, Y., Rouyer, N. et al. The FMR–1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nat Genet 4, 335–340 (1993). https://doi.org/10.1038/ng0893-335
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DOI: https://doi.org/10.1038/ng0893-335
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