Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Comparative Study
, 74 (2), 291-8

The Protein Product of the Fragile X Gene, FMR1, Has Characteristics of an RNA-binding Protein

Affiliations
Comparative Study

The Protein Product of the Fragile X Gene, FMR1, Has Characteristics of an RNA-binding Protein

H Siomi et al. Cell.

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.

Similar articles

See all similar articles

Cited by 196 articles

See all "Cited by" articles

Publication types

MeSH terms

LinkOut - more resources

Feedback