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


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1993-08

AUTHORS

D Devys, Y Lutz, N Rouyer, J P Bellocq, J L Mandel

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. More... »

PAGES

335-340

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng0893-335

DOI

http://dx.doi.org/10.1038/ng0893-335

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1046853238

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/8401578


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