Gene expression and adaptive noncoding changes during human evolution

Area of Science:

• Evolutionary genomics
• Comparative genomics
• Human evolution

Background:

• Adaptive changes occur in gene expression and non-protein-coding regions during human evolution.
• The link between gene expression and adaptive cis-regulatory changes is not well understood.

Purpose of the Study:

• To investigate the relationship between gene expression and adaptive changes in cis-regulatory regions.
• To compare gene expression data in humans and chimpanzees across multiple tissues.

Main Methods:

• Measured gene expression in five human and chimpanzee tissues.
• Assessed correlations between gene expression and adaptive noncoding changes.
• Analyzed correlations at the gene ontology group level for increased statistical power.

Main Results:

• Found limited correlation between gene expression and adaptive noncoding changes at the individual gene level.
• Identified significant correlations at the biological function ontology group level.
• Highlighted prominent functional categories including cancer and neural development.

Conclusions:

• Gene expression and noncoding adaptation are correlated at the functional level, not the individual gene level.
• Key biological functions linked to these changes include specific transcription factor regulation, responses to perturbations, and immune system cell differentiation.
• Cancer and neural development/function are prominent themes in co-enriched functional categories.