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Prefrontal cortical transcriptome analysis of Cyfip2 mutant mice (jouvenile mouse)

ABSTRACT: CYFIP2 is a component of the WAVE regulatory complex which regulates actin polymerization and branching in diverse cellular compartments. Recent molecular genetic studies identified mutations of CYFIP2 in patients with intellectual disability and seizures, suggesting that CYFIP2 may have some roles in brain development and function. To understand its functions in vivo at the molecular level, we performed RNA-seq analysis in juvenile Cyfip2 mutant mice.

ORGANISM(S): Mus musculus

PROVIDER: GSE129120 | GEO | 2021/03/28

REPOSITORIES: GEO

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Prefrontal cortical transcriptome analysis of Cyfip2 mutant mice (adult mouse)

Project description:CYFIP2 is a component of the WAVE regulatory complex which regulates actin polymerization and branching in diverse cellular compartments. Recent molecular genetic studies identified mutations of CYFIP2 in patients with intellectual disability and seizures, suggesting that CYFIP2 may have some roles in brain development and function. To understand its functions in vivo at the molecular level, we performed RNA-seq analysis in adult Cyfip2 mutant mice.

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Deficiency of the neurodevelopmental disorder-associated gene Cyfip2 alters retinal ganglion cell properties and visual acuity

Project description:Intellectual disability (ID) is a neurodevelopmental disorder affecting approximately 0.5-3% of the population in the developed world. Individuals with ID exhibit deficits in intelligence and impaired adaptive behavior, frequently as well as visual impairments. Cytoplasmic FMR1-interacting protein 2 (CYFIP2) is an interacting partner of fragile X mental retardation protein, whose loss results in fragile X syndrome, the most common inherited cause of ID. Recently, CYFIP2 variants were found in patients with early-onset epileptic encephalopathy, developmental delay, and ID. Individuals with these CYFIP2 variants often exhibit visual impairments, however, the underlying mechanism is poorly understood. In the current study, we investigated the role of Cyfip2 in retinal and visual function by generating and analyzing mice in which Cyfip2 is depleted in the retina (Cyfip2 CKO mice). We found no major difference in the layer structure and cell composition between control and Cyfip2 CKO retinas, whereas a subset of genes associated with transporter and channel activity was differentially expressed in the Cyfip2 CKO retina. Multi-electrode array recordings showed more sustained and stronger response to positive flashes of ON ganglion cells in the Cyfip2 CKO retina, although we did not observe that Cyfip2 deficiency affects photoreceptor and ON bipolar cell functions by electroretinogram analysis. Furthermore, initial and late phase OKR analysis demonstrated that Cyfip2 deficiency impairs visual function at the organismal level. Together, our results shed light on the molecular mechanism underlying visual impairments observed in individuals with CYFIP2 variants and, more generally, in patients with neurodevelopmental disorders including ID.

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Prefrontal cortical transcriptome analysis of Cyfip2 mutant mice

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Prefrontal cortical transcriptome analysis of Cyfip2 mutant mice (adult mouse)

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