Title
The molecular biology of FMRP: new insights into fragile X syndrome
UMMS Affiliation
Program in Molecular Medicine
Publication Date
2021-04-01
Document Type
Article
Disciplines
Amino Acids, Peptides, and Proteins | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Molecular and Cellular Neuroscience | Molecular Biology | Nervous System Diseases | Neuroscience and Neurobiology
Abstract
Fragile X mental retardation protein (FMRP) is the product of the fragile X mental retardation 1 gene (FMR1), a gene that - when epigenetically inactivated by a triplet nucleotide repeat expansion - causes the neurodevelopmental disorder fragile X syndrome (FXS). FMRP is a widely expressed RNA-binding protein with activity that is essential for proper synaptic plasticity and architecture, aspects of neural function that are known to go awry in FXS. Although the neurophysiology of FXS has been described in remarkable detail, research focusing on the molecular biology of FMRP has only scratched the surface. For more than two decades, FMRP has been well established as a translational repressor; however, recent whole transcriptome and translatome analyses in mouse and human models of FXS have shown that FMRP is involved in the regulation of nearly all aspects of gene expression. The emerging mechanistic details of the mechanisms by which FMRP regulates gene expression may offer ways to design new therapies for FXS.
Keywords
FMRP, Fragile X Syndrome, Neurodevelopmental disorder, RNA binding protein
DOI of Published Version
10.1038/s41583-021-00432-0
Source
Richter JD, Zhao X. The molecular biology of FMRP: new insights into fragile X syndrome. Nat Rev Neurosci. 2021 Apr;22(4):209-222. doi: 10.1038/s41583-021-00432-0. Epub 2021 Feb 19. PMID: 33608673; PMCID: PMC8094212. Link to article on publisher's site
Journal/Book/Conference Title
Nature reviews. Neuroscience
Related Resources
PubMed ID
33608673
Repository Citation
Richter JD, Zhao X. (2021). The molecular biology of FMRP: new insights into fragile X syndrome. Open Access Publications by UMass Chan Authors. https://doi.org/10.1038/s41583-021-00432-0. Retrieved from https://escholarship.umassmed.edu/oapubs/4701