The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein - PubMed (original) (raw)

Comparative Study

. 1993 Jul 30;74(2):291-8.

doi: 10.1016/0092-8674(93)90420-u.

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Comparative Study

The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein

H Siomi et al. Cell. 1993.

Abstract

Fragile X syndrome is one of the most common human genetic diseases and the most common cause of hereditary mental retardation. The gene that causes fragile X syndrome, FMR1, was recently identified and sequenced and found to encode a putative protein of unknown function. Here we report that FMR1 contains two types of sequence motifs recently found in RNA-binding proteins: an RGG box and two heterogeneous nuclear RNP K homology domains. We also demonstrate that FMR1 binds RNA in vitro. Using antibodies to FMR1, we detect its expression in divergent organisms and in cells of unaffected humans, but fragile X-affected patients express little or no FMR1. These findings demonstrate that FMR1 expression is directly correlated with the fragile X syndrome and suggest that anti-FMR1 antibodies will be important for diagnosis of fragile X syndrome. Furthermore, the RNA binding activity of FMR1 opens the way to understanding the function of FMR1.

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