NMD abnormalities during brain development in the Fmr1-knockout mouse model of fragile X syndrome.
Genome Biol
; 22(1): 317, 2021 11 16.
Article
en En
| MEDLINE
| ID: mdl-34784943
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.Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Encéfalo
/
Encefalopatías
/
Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil
/
Degradación de ARNm Mediada por Codón sin Sentido
/
Síndrome del Cromosoma X Frágil
Tipo de estudio:
Prognostic_studies
Límite:
Animals
/
Humans
Idioma:
En
Revista:
Genome Biol
Asunto de la revista:
BIOLOGIA MOLECULAR
/
GENETICA
Año:
2021
Tipo del documento:
Article
País de afiliación:
Estados Unidos