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Gene expression and adaptive noncoding changes during human evolution.

Courtney C Babbitt1,2,3, Ralph Haygood4, William J Nielsen5

  • 1Department of Biology, Duke University, Durham, NC, 27708, USA. cbabbitt@bio.umass.edu.

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|June 7, 2017
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Summary
This summary is machine-generated.

Human evolution shows adaptive changes in gene expression and regulatory DNA. This study finds correlations between gene expression and noncoding changes at the functional level, particularly in cancer and neural development.

Keywords:
AdaptationGene expressionGene functionGene regulationHuman evolution

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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.