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Induction of Protein Deletion Through In Utero Electroporation to Define Deficits in Neuronal Migration in Transgenic Models

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Novel gene function and regulation in neocortex expansion.

Michael Heide¹, Katherine R Long¹, Wieland B Huttner¹

¹Max Planck Institute of Molecular Cell Biology and Genetics, Pfotenhauerstr. 108, D-01307 Dresden, Germany.

Current Opinion in Cell Biology

|December 12, 2017

Summary

Human brain evolution, specifically neocortex expansion, is driven by genomic changes. These changes enhance neural stem and progenitor cell proliferation, leading to unique human brain development.

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Area of Science:

Evolutionary biology
Genomics
Neuroscience

Background:

The expansion of the human neocortex is a key evolutionary development.
This expansion is linked to changes in neural stem and progenitor cell proliferation during development.

Purpose of the Study:

To identify and categorize the types of genomic changes responsible for human neocortex expansion.
To provide examples of these genomic changes, highlighting human-specific genes.

Main Methods:

Comparative genomics analysis to identify human-specific genetic alterations.
Examination of gene regulation, gene function, and novel gene emergence in the human lineage.

Main Results:

Three primary categories of genomic changes were identified: novel gene regulation, altered gene function, and novel human-specific genes.
Novel human-specific genes include both increased gene copy numbers and entirely new genes.
The ARHGAP11B gene and its unique protein product serve as a prime example of a human-specific genetic innovation.

Conclusions:

Genomic alterations, including novel genes and regulatory changes, are fundamental to the evolution of the human neocortex.
The emergence of unique human-specific genes, such as ARHGAP11B, plays a critical role in distinguishing human brain development.