ID 83621
Author
Inoue, Shunsuke B. Institute for Genome Research, University of Tokushima
Siomi, Mikiko C. Institute for Genome Research, University of Tokushima
Siomi, Haruhiko Institute for Genome Research, University of Tokushima
Keywords
fragile X syndrome
RNA-binding protein
translation
Content Type
Journal Article
Description
Fragile X syndrome is the most common form of inherited mental retardation. Mutations which abolish expression of an X-linked gene, FMR1, result in pathogenesis of the disease. FMR1 encodes a cytoplasmic RNA-binding protein which interacts with two autosomal homologs, FXR1 and FXR2. These proteins are highly expressed in neurons. In addition, the FMR1/FXR proteins are associated with ribosomes. Given their RNA-binding activity and association with ribosomes, these proteins are hypothesized to bind to specific RNAs and regulate their expression at translational levels in a manner critical for correct development of neurons. Much progress has been made in FMR1 research over the past several years, but little light has yet to be shed on the physiological function of these proteins. It will be critical to define the biochemical properties of these proteins, and identify potential downstream targets to clarify the molecular mechanisms underlying the potential roles of these proteins in translation. A basic understanding of the function of this new family of RNA-binding proteins should then allow us to begin to address the question of how the lack of FMR1 expression leads to symptoms in fragile X syndrome.
Journal Title
The journal of medical investigation : JMI
ISSN
13431420
NCID
AA11166929
Volume
47
Issue
3-4
Start Page
101
End Page
107
Sort Key
101
Published Date
2000
Remark
FullText File
language
eng