Authors:

Melissa Corea

Date Created:

Not specified

Course Title:

Professor:

Not specified

About Paper:

De novo mutations in the chromatin-remodeling factor CHD8 (Chromodomain-Helicase DNA-binding protein 8) are strongly associated with autism spectrum disorder (ASD) and other neurodevelopmental disorders, resulting in intellectual disability and macrocephaly. Recent single-nuclei RNA-sequencing experiments in the cortex cerebellum of Chd8 haploinsufficient mice have revealed cell-specific dysregulation of transcription across all cell types. Here, I mapped Chd8 and candidate target protein expression in the postnatal, mature brain to validate the previously identified transcriptional dysregulation. I visualized protein expression patterns and subcellular localization via immunohistochemistry followed by high resolution epifluorescence and confocal microscopy. These studies were performed in Chd8+/del5bp mice and wild type littermates at postnatal day 12 (PND12) and PND60. Brain tissue from the cortex, hippocampus, amygdala, and cerebellum were analyzed. Preliminary results validate a mostly nuclear Chd8 subcellular localization pattern at PND12 where expression decreases as the brain matures (i.e. PND60). These findings contribute to a better understanding of the role of Chd8 in the mature mouse brain and how specific cell types are impacted by Chd8 haploinsufficiency. Ancestral Impact on Family History of Breast Cancer and High Penetrance Mutations Amanda Corpuz

Source:

UC Davis / Neuro Physio & Behavior / 2024

Topics:

No topics listed

Co-authors:

Melissa Corea