| First Author | Kurosaki T | Year | 2021 |
| Journal | Genome Biol | Volume | 22 |
| Issue | 1 | Pages | 317 |
| PubMed ID | 34784943 | Mgi Jnum | J:317365 |
| Mgi Id | MGI:6850198 | Doi | 10.1186/s13059-021-02530-9 |
| Citation | Kurosaki T, et al. (2021) NMD abnormalities during brain development in the Fmr1-knockout mouse model of fragile X syndrome. Genome Biol 22(1):317 |
| abstractText | 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. |
