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.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Amino Acid Sequence
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Female
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Fragile X Mental Retardation Protein
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Fragile X Syndrome / diagnosis*
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Fragile X Syndrome / genetics*
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Heterogeneous-Nuclear Ribonucleoprotein K
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Heterogeneous-Nuclear Ribonucleoproteins
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Humans
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Male
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Molecular Sequence Data
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Nerve Tissue Proteins / genetics*
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Nerve Tissue Proteins / immunology
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Nerve Tissue Proteins / metabolism
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RNA / metabolism
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RNA-Binding Proteins / genetics*
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RNA-Binding Proteins / immunology
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RNA-Binding Proteins / metabolism
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Recombinant Fusion Proteins / metabolism
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Ribonucleoproteins / genetics
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Ribonucleoproteins / immunology
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Sequence Deletion
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Sequence Homology, Amino Acid
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Species Specificity
Substances
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FMR1 protein, human
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Heterogeneous-Nuclear Ribonucleoprotein K
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Heterogeneous-Nuclear Ribonucleoproteins
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Nerve Tissue Proteins
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RNA-Binding Proteins
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Recombinant Fusion Proteins
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Ribonucleoproteins
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Fragile X Mental Retardation Protein
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HNRNPK protein, human
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RNA