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Related Experiment Video

Updated: Feb 24, 2026

Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein

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Intellectual disability risk gene RFX4 regulates cortical neurogenesis by restraining neuronal differentiation.

Julianna J Determan, Gareth Chapman, Sydney R Crump

Biorxiv : the Preprint Server for Biology

|February 23, 2026

Summary

RFX4 is crucial for human brain development, regulating neuron production and gene expression. Its dysfunction contributes to neurodevelopmental disorders by disrupting normal cortical formation.

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Last Updated: Feb 24, 2026

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Immunohistochemical Visualization of Hippocampal Neuron Activity After Spatial Learning in a Mouse Model of Neurodevelopmental Disorders

Immunohistochemical Visualization of Hippocampal Neuron Activity After Spatial Learning in a Mouse Model of Neurodevelopmental Disorders

Published on: May 12, 2015

Area of Science:

Neuroscience
Developmental Biology
Genetics

Background:

RFX4 (a risk gene for neurodevelopmental disorders) function in cortical development is largely unknown.
Understanding RFX4's role is vital for neurodevelopmental disorder etiology.

Purpose of the Study:

To elucidate the function of RFX4 in human cortical development.
To investigate RFX4's role in neurogenesis and gene regulation.
To model RFX4 deficiency and pathogenic mutations.

Main Methods:

Utilized human stem cell models with RFX4 deficiency and pathogenic mutations.
Investigated RFX4's interaction with NOTCH signaling in neural progenitors.
Employed genome-wide binding analysis for RFX4 and RFX3.
Used cortical organoid and direct differentiation models.
Modeled pathogenic RFX4 missense mutations.

Main Results:

RFX4 restrains neurogenesis by cooperating with NOTCH signaling, repressing pro-neuronal and synaptic genes.
RFX4 is essential for RFX3's genome-wide binding and regulation of synaptic genes.
RFX4 has lineage-specific roles in inhibitory neuron proliferation.
RFX4 deficiency causes persistent gene expression dysregulation and disrupts cortical neuron stratification.
Pathogenic RFX4 mutations impair DNA binding and distinctively alter synaptic gene expression.

Conclusions:

RFX4 has both shared and lineage-specific functions in human cortical development.
RFX4's regulation of neurogenesis and gene expression is critical for preventing neurodevelopmental disorders.
Distinct pathogenic mechanisms, beyond haploinsufficiency, may underlie RFX4-associated disorders.