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Cited by 641Genetics and Neurodevelopmental DisordersRNA Research and SplicingGenetic Neurodegenerative Diseases

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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·1993·Cell
DOI 10.1016/0092-8674(93)90420-u
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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.

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Metadata

Authors
Siomi, H., Siomi, M. C., Nussbaum, R. L., & Dreyfuss, G.
Affiliations
Howard Hughes Medical Institute (US)
ORCID
Venue
Cell
Publisher
Elsevier BV
Published
1993-07
Volume
74
Issue
2
Pages
291-298
ISSN
0092-8674 (ISSN-L)
DOI
10.1016/0092-8674(93)90420-u
OpenAlex
W2144995800
Cited by
641
References
2
Citations by year
2026: 5 · 2025: 11 · 2024: 9 · 2023: 5 · 2022: 9 · 2021: 6 · 2020: 10 · 2019: 18 · 2018: 16 · 2017: 16 · 2016: 14 · 2015: 12 · 2014: 27 · 2013: 22 · 2012: 16
FWCI
21.88
Type
journal article
Language
en
Open access
closed
Licence
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations
  • Cell (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • Howard Hughes Medical Institute
  • National Institutes of Health
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
Keywords
FMR1 gene, fragile X syndrome, RNA-binding proteins, RGG box, KH domain, heterogeneous nuclear ribonucleoproteins, RNA binding, hereditary intellectual disability, protein function
MeSH terms
Amino Acid Sequence, Female, Fragile X Syndrome, Humans, Male, Molecular Sequence Data, Nerve Tissue Proteins, Recombinant Fusion Proteins, Ribonucleoproteins, RNA, Species Specificity, RNA-Binding Proteins, Sequence Deletion, Sequence Homology, Amino Acid, Heterogeneous-Nuclear Ribonucleoproteins, Heterogeneous-Nuclear Ribonucleoprotein K, Fragile X Messenger Ribonucleoprotein 1

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