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.
| Original language | English |
|---|---|
| Pages (from-to) | 291-298 |
| Number of pages | 8 |
| Journal | Cell |
| Volume | 74 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - 1993 Jul 30 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Cell Biology
- Molecular Biology
Cite this
The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein. / Siomi, Haruhiko; Siomi, Mikiko C.; Nussbaum, Robert L.; Dreyfuss, Gideon.
In: Cell, Vol. 74, No. 2, 30.07.1993, p. 291-298.Research output: Contribution to journal › Article
}
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.
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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 -