[The fragile X syndrome: one protein missing and 1001 disoriented mRNAs].

Title[The fragile X syndrome: one protein missing and 1001 disoriented mRNAs].
Publication TypeJournal Article
Year of Publication2006
AuthorsDavidovic L, Tremblay S, Gravel M, De Koninck P, Khandjian EWMiky
JournalMed Sci (Paris)
Volume22
Issue1
Pagination41-6
Date Published2006 Jan
ISSN0767-0974
KeywordsFragile X Mental Retardation Protein, Fragile X Syndrome, Gene Deletion, Gene Expression Regulation, Humans, Models, Genetic, Nuclear Proteins, Nucleic Acid Conformation, RNA, Messenger, Trans-Activators
Abstract

Fragile X syndrome is the most common form of inherited mental retardation. This X-linked disease is due to transcriptional silencing of the Fragile Mental Retardation 1 (FMR1) gene and the absence of its gene product, FMRP. This protein is an RNA-binding protein present in mRNP complexes associated with the translation machinery and is thought to be a key player in the control of mRNA transport in neurons. However, the exact role of FMRP in translation remains unclear. Two homologous proteins, FXR1P and FXR2P, are also found in RNP complexes containing FMRP, suggesting that FMRP's functions are much more complex than first thought. The molecular mechanisms altered in cells lacking FMRP still remain to be elucidated, as well as the putative roles of FXR1P and FXR2P as compensatory molecules. Here, we review the various possible functions of FMRP in RNA localization and transport in highly differentiated cells containing dendritic extensions such as neurons.

DOI10.1051/medsci/200622141
Alternate JournalMed Sci (Paris)
PubMed ID16386219

Funding

Our research endeavors are made possible by the following agencies:

Canadian Institutes of Health Research - Instituts de recherche en santé du Canada Fonds de recherche du Québec – Nature et technologies (FRQNT)Fonds de la recherche en santé du Québec NARSAD Natural Sciences and Engineering Research Council of Canada (NSERC) - Conseil de recherche en sciences naturelles et en génie du Canada (CRSNG)innovation.caHuman Frontier Science Program