TY - JOUR
T1 - The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein
AU - Siomi, Haruhiko
AU - Siomi, Mikiko C.
AU - Nussbaum, Robert L.
AU - Dreyfuss, Gideon
PY - 1993/7/30
Y1 - 1993/7/30
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0027327486&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0027327486&partnerID=8YFLogxK
U2 - 10.1016/0092-8674(93)90420-U
DO - 10.1016/0092-8674(93)90420-U
M3 - Article
C2 - 7688265
AN - SCOPUS:0027327486
VL - 74
SP - 291
EP - 298
JO - Cell
JF - Cell
SN - 0092-8674
IS - 2
ER -