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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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Published on: December 1, 2017

Variations associated with neurodevelopmental disorders affect ARF1 function and cortical development.

Tomoki Ishiguro¹, Mariko Noda¹, Masashi Nishikawa^1,2

¹Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, 713-8 Kamiya, Kasugai, Aichi 480-0392, Japan.

Journal of Biochemistry

|July 25, 2024

Summary

Specific ADP-ribosylation factor 1 (ARF1) variants linked to neurodevelopmental disorders disrupt Golgi apparatus structure and function, causing cortical neuron migration defects in mice.

Keywords:

ARF1 Golgi apparatus brain neurodevelopmental disorder small GTPase

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Area of Science:

Cell Biology
Neuroscience
Genetics

Background:

ADP-ribosylation factors (ARFs) are small GTPases crucial for vesicle trafficking and actin dynamics.
Genetic studies link ARF gene variations to neurodevelopmental disorders, but the underlying mechanisms are unclear.

Purpose of the Study:

To investigate the functional impact of ARF1 variants associated with neurodevelopmental disorders.
To elucidate the pathophysiological role of these variants in neuronal development.

Main Methods:

Biochemical assays (GDP/GTP exchange, GTPase activity) were performed on ARF1 variants.
Cell biological studies involved transient expression in mammalian cells to assess Golgi apparatus structure.
In vivo analyses used in utero electroporation in mice to study cortical neuron migration.

Main Results:

Several ARF1 variants (p.R19C, -p.F51L, -p.R99C, -p.R99H) showed altered GDP/GTP exchange activity.
ARF1 variants p.R99C, -p.R99H, and -p.K127E disrupted Golgi apparatus structure in mammalian cells.
These variants caused cortical neuron migration defects and Golgi expansion in embryonic mice.

Conclusions:

ARF1 variants linked to neurodevelopmental disorders can impair Golgi apparatus integrity.
Disruption of Golgi structure by ARF1 variants leads to developmental defects in cortical neurons, specifically affecting migration.