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Evolutionary genomics. Evolutionary changes in promoter and enhancer activity during human corticogenesis
Steven K Reilly1, Jun Yin1, Albert E Ayoub2
1Department of Genetics, Yale School of Medicine, New Haven, CT 06510, USA.
Science (New York, N.Y.)
|March 7, 2015
Summary
Researchers studied human, macaque, and mouse brain development to find genetic changes. They discovered regulatory elements that gained activity in humans, impacting neuronal development and human brain evolution.
Area of Science:
- Neuroscience
- Evolutionary Biology
- Genetics
Background:
- Human higher cognition is linked to cerebral cortex evolution.
- Genetic mechanisms driving these changes remain unclear.
Purpose of the Study:
- To identify genetic regulatory elements with altered activity during human corticogenesis.
- To understand the evolutionary basis of human brain development.
Main Methods:
- Comparative epigenetic profiling across human, rhesus macaque, and mouse corticogenesis.
- Analysis of promoter and enhancer activity gains in humans.
- Investigated coexpressed gene modules and transcription factor binding sites.
Main Results:
- Identified promoters and enhancers with gained activity in human corticogenesis.
- These gains are enriched in gene modules regulating neuronal proliferation, migration, and cortical-map organization.
- Correlated gene expression and transcription factor binding suggest common regulatory mechanisms.
Conclusions:
- Coordinated regulatory changes occurred during human cortical evolution.
- These changes impact conserved developmental processes, offering insights into human brain evolution.
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