Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations

Détails

ID Serval
serval:BIB_89BF2DE96B48
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations
Périodique
RNA
Auteur(s)
Primerano B., Tassone F., Hagerman R. J., Hagerman P., Amaldi F., Bagni C.
ISSN
1355-8382 (Print)
ISSN-L
1355-8382
Statut éditorial
Publié
Date de publication
12/2002
Peer-reviewed
Oui
Volume
8
Numéro
12
Pages
1482-8
Langue
anglais
Notes
Primerano, Beatrice
Tassone, Flora
Hagerman, Randi J
Hagerman, Paul
Amaldi, Francesco
Bagni, Claudia
eng
Research Support, Non-U.S. Gov't
2003/01/08 04:00
RNA. 2002 Dec;8(12):1482-8.
Résumé
The Fragile X mental retardation gene (FMR1) contains a polymorphic trinucleotide CGG repeat in the 5' untranslated region (UTR) of the FMR1 messenger. We have characterized three lymphoblastoid cell lines derived from unrelated male carriers of a premutation that overexpress FMR1 mRNA and show reduced FMRP level compared to normal cells. The analysis of polysomes/mRNPs distribution of mRNA in the cell lines with a premutation shows that the polysomal association of FMR1 mRNA, which is high in normal cells, becomes progressively lower with increasing CGG repeat expansion. In addition, we could detect a very low level of FMR1 mRNA in a lymphoblastoid cell line from a patient with a full mutation. In this case, FMR1 mRNA is not at all associated with polysomes, in agreement with the complete absence of FMRP. The impairment of FMR1 mRNA translation in patients with the Fragile X syndrome with FMR1 premutation is the cause of the lower FMRP levels that leads to the clinical involvement.
Mots-clé
Cell Line, Female, Fragile X Mental Retardation Protein, Fragile X Syndrome/*genetics, *Heterozygote, Humans, Lymphocytes/cytology/physiology, Male, Mutation, Nerve Tissue Proteins/*genetics, *Protein Biosynthesis, RNA, Messenger/genetics, *RNA-Binding Proteins, Trinucleotide Repeat Expansion
Pubmed
Création de la notice
06/03/2017 17:23
Dernière modification de la notice
20/08/2019 14:48
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