NMD abnormalities during brain development in the Fmr1-knockout mouse model of fragile X syndrome
Ontology highlight
ABSTRACT: Background
Fragile X syndrome (FXS) is an intellectual disability attributable to loss of fragile X protein (FMRP). We previously demonstrated that FMRP binds mRNAs targeted for nonsense-mediated mRNA decay (NMD) and that FMRP loss results in hyperactivated NMD and inhibition of neuronal differentiation in human stem cells. Results
We show here that NMD is hyperactivated during the development of the cerebral cortex, hippocampus, and cerebellum in the Fmr1-knockout (KO) mouse during embryonic and early postnatal periods. Our findings demonstrate that NMD regulates many neuronal mRNAs that are important for mouse brain development. Conclusions
We reveal the abnormal regulation of these mRNAs in the Fmr1-KO mouse, a model of FXS, and highlight the importance of early intervention. Supplementary Information
The online version contains supplementary material available at 10.1186/s13059-021-02530-9.
SUBMITTER: Kurosaki T
PROVIDER: S-EPMC8597091 | biostudies-literature |
REPOSITORIES: biostudies-literature
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