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The Retinoblastoma Gene

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...

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Related Experiment Video

Updated: Nov 30, 2025

Vibratome Sectioning Mouse Retina to Prepare Photoreceptor Cultures

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Published on: December 22, 2014

The effect of Rbfox2 modulation on retinal transcriptome and visual function.

Lei Gu¹, Riki Kawaguchi², Joseph Caprioli^1,3

¹Stein Eye Institute, University of California, Los Angeles, 100 Stein Plaza, Los Angeles, CA, 90095, USA.

Scientific Reports

|November 13, 2020

Summary

This summary is machine-generated.

RNA binding protein Fox 2 (Rbfox2) is crucial for visual depth perception in mice. Its absence impairs visual function by affecting RNA metabolism and synaptic signaling pathways in the retina.

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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Published on: August 20, 2019

Area of Science:

Neuroscience
Molecular Biology
Genetics

Background:

Rbfox proteins are key regulators of RNA processing, impacting neurogenesis and neurological disorders.
Rbfox2 expression patterns and functional roles in the retina are not fully understood.

Purpose of the Study:

To investigate Rbfox2 expression in mouse retinas during development and adulthood.
To determine the impact of Rbfox2 downregulation on visual function and retinal gene expression.

Main Methods:

Analysis of Rbfox2 expression in adult and developing mouse retinas.
Assessment of visual function using the visual cliff test in Rbfox2-deficient mice.
Gene set enrichment and pathway analysis of differentially expressed genes in Rbfox2-deficient retinas.

Main Results:

Rbfox2 is expressed in various retinal cell types, including RGCs and specific amacrine cells, and remains nuclear during development.
Rbfox2 deficiency caused significant deficits in depth perception without altering retinal morphology.
Enriched gene sets in Rbfox2-deficient retinas were associated with RNA metabolism, circadian rhythm, synaptic function, and signaling pathways.

Conclusions:

Rbfox2 plays a critical role in regulating visual depth perception, likely through its influence on RNA metabolism and synaptic function.
Rbfox2 is essential for normal visual processing and may be a target for neurological conditions affecting vision.