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      The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation.

      Nature genetics
      Amino Acid Sequence, Animals, Antibodies, Monoclonal, Base Sequence, Cell Line, Cloning, Molecular, DNA, genetics, metabolism, Exons, Fragile X Mental Retardation Protein, Fragile X Syndrome, Heterozygote Detection, Humans, Male, Methylation, Molecular Sequence Data, Mutation, Nerve Tissue Proteins, biosynthesis, Neurons, Oligodeoxyribonucleotides, Organ Specificity, RNA-Binding Proteins, Recombinant Fusion Proteins, analysis, Repetitive Sequences, Nucleic Acid, Transfection

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          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.

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          Most cited references18

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          Human oestrogen receptor cDNA: sequence, expression and homology to v-erb-A.

          We have cloned and sequenced the complete complementary DNA of the oestrogen receptor (ER) present in the breast cancer cell line MCF-7. The expression of the ER cDNA in HeLa cells produces a protein that has the same relative molecular mass and binds oestradiol with the same affinity as the MCF-7 ER. There is extensive homology between the ER and the erb-A protein of the oncogenic avian erythroblastosis virus.
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            • Record: found
            • Abstract: found
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            Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n.

            The sequence of a Pst I restriction fragment was determined that demonstrate instability in fragile X syndrome pedigrees. The region of instability was localized to a trinucleotide repeat p(CCG)n. The sequence flanking this repeat were identical in normal and affected individuals. The breakpoints in two somatic cell hybrids constructed to break at the fragile site also mapped to this repeat sequence. The repeat exhibits instability both when cloned in a nonhomologous host and after amplification by the polymerase chain reaction. These results suggest variation in the trinucleotide repeat copy number as the molecular basis for the instability and possibly the fragile site. This would account for the observed properties of this region in vivo and in vitro.
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              • Record: found
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              • Article: not found

              Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

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