# Role and Impact of the brsk2 Gene in Zebrafish Retinal Development and Visual Function Characterized by Behavioral, Histological, and Transcriptomic Analyses

## TL;DR

This study explores how the brsk2 gene affects retinal development and visual function in zebrafish, revealing its role in sensory processing linked to neurodevelopmental disorders like ASD.

## Contribution

The study identifies brsk2 as a key gene influencing retinal structure and visual function, linking it to sensory deficits in neurodevelopmental disorders.

## Key findings

- brsk2ab−/− zebrafish larvae showed enhanced light perception compared to wild-type controls.
- Retinal structure was disrupted, with up-regulated rhodopsin expression in retinal cells.
- Transcriptomic analysis revealed up-regulation of key opsins and genes in visual pathways after brsk2 deletion.

## Abstract

Vision is fundamental to the acquisition of motor, cognitive, and social skills, playing a crucial role in typical development. Early visual impairments are associated with various neurodevelopmental conditions, including Autism Spectrum Disorder (ASD). The (Brain-specific serine/threonine-protein kinase 2, BRSK2) gene has been identified as a high-risk gene for ASD. This study aims to investigate the role of brsk2 in retinal photoreceptor development and visual function in zebrafish. Using behavioral assays, histological analysis, and transcriptomic profiling, we assessed the impact of brsk2 deletion on retinal structure and function. The results showed that brsk2ab−/− zebrafish larvae exhibited significantly enhanced light perception compared to wild-type (WT) controls. Structural analysis of the retina revealed disruptions in the layered organization, along with up-regulated rhodopsin expression in retinal cells. Additionally, transcriptomic analysis indicated that key opsins and genes involved in visual development and phototransduction pathways were markedly up-regulated following brsk2 deletion. This research highlights the importance of brsk2 in early retinal circuit development and its potential implications for understanding sensory processing deficits in neurodevelopmental disorders. By linking BRSK2 to specific sensory phenotypes, this study addresses a critical gap in knowledge regarding the mechanisms underlying sensory abnormalities in ASD and related conditions.