Abstract
Fragile X mental retardation syndrome is caused by the unstable expansion of a CGG repeat in the FMR-1 gene. In patients with a full mutation, abnormal methylation results in suppression of FMR-1 transcription. FMR-1 is expressed in many tissues but its function is unknown. We have raised monoclonal antibodies specific for the FMR-1 protein. They detect 4-5 protein bands which appear identical in cells of normal males and of males carrying a premutation, but are absent in affected males with a full mutation. Immunohistochemistry shows a cytoplasmic localization of FMR-1. The highest levels were observed in neurons, while glial cells contain very low levels. In epithelial tissues, levels of FMR-1 were higher in dividing layers. In adult testis, FMR-1 was detected only in spermatogonia. FMR-1 was not detected in dermis and cardiac muscle except under pathological conditions.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Sequence
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Animals
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Antibodies, Monoclonal
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Base Sequence
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Cell Line
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Cloning, Molecular
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DNA / genetics
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DNA / metabolism
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Exons
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Fragile X Mental Retardation Protein
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Fragile X Syndrome / genetics*
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Fragile X Syndrome / metabolism
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Genetic Carrier Screening*
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Humans
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Male
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Methylation
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Molecular Sequence Data
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Mutation*
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Nerve Tissue Proteins / biosynthesis
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Nerve Tissue Proteins / genetics*
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Nerve Tissue Proteins / metabolism*
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Neurons / metabolism*
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Oligodeoxyribonucleotides
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Organ Specificity
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RNA-Binding Proteins*
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Recombinant Fusion Proteins / analysis
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Recombinant Fusion Proteins / biosynthesis
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Repetitive Sequences, Nucleic Acid
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Transfection
Substances
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Antibodies, Monoclonal
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FMR1 protein, human
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Nerve Tissue Proteins
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Oligodeoxyribonucleotides
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RNA-Binding Proteins
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Recombinant Fusion Proteins
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Fragile X Mental Retardation Protein
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DNA