| The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein. | |
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MedLine Citation:
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PMID: 7688265 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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H Siomi; M C Siomi; R L Nussbaum; G Dreyfuss |
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Publication Detail:
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Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: Cell Volume: 74 ISSN: 0092-8674 ISO Abbreviation: Cell Publication Date: 1993 Jul |
Date Detail:
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Created Date: 1993-09-03 Completed Date: 1993-09-03 Revised Date: 2010-09-15 |
Medline Journal Info:
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Nlm Unique ID: 0413066 Medline TA: Cell Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 291-8 Citation Subset: IM |
Affiliation:
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Howard Hughes Medical Institute, University of Pennsylvania School of Medicine, Philadelphia 19104-6148. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acid Sequence Female Fragile X Mental Retardation Protein Fragile X Syndrome / diagnosis*, genetics* Heterogeneous-Nuclear Ribonucleoproteins Humans Male Molecular Sequence Data Nerve Tissue Proteins / genetics*, immunology, metabolism RNA / metabolism RNA-Binding Proteins / genetics*, immunology, metabolism Recombinant Fusion Proteins / metabolism Ribonucleoproteins / genetics, immunology Sequence Deletion Sequence Homology, Amino Acid Species Specificity |
| Chemical | |
Reg. No./Substance:
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0/FMR1 protein, human; 0/Heterogeneous-Nuclear Ribonucleoproteins; 0/Nerve Tissue Proteins; 0/RNA-Binding Proteins; 0/Recombinant Fusion Proteins; 0/Ribonucleoproteins; 139135-51-6/Fragile X Mental Retardation Protein; 146410-60-8/HNRNPK protein, human; 63231-63-0/RNA |
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