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The Human Accelerated Region HAR202 Controls NPAS3 Expression in the Developing Forebrain Displaying Differential

Alfredo Leandro Caporale1, Alejandro R Cinalli1, Marcelo Rubinstein1,2

  • 1Instituto de Investigaciones en Ingeniería Genética y Biología Molecular (INGEBI), Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Buenos Aires C1428, Argentina.

Molecular Biology and Evolution
|September 6, 2024
PubMed
Summary

Human accelerated regions (HARs) in the NPAS3 gene show altered function in modern humans, impacting brain development. This highlights rapid evolution in human neurodevelopmental genes.

Keywords:
CRISPR/Cas9DenisovansHARNPAS3Neanderthaltransgenic mice

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Area of Science:

  • Evolutionary biology
  • Neuroscience
  • Genetics

Background:

  • Phenotypic differences in cognitive abilities between humans and chimpanzees may stem from altered neurodevelopmental gene regulation.
  • The NPAS3 gene, a neurodevelopmental transcription factor, contains numerous human accelerated regions (HARs), suggesting a role in human nervous system evolution.

Purpose of the Study:

  • To functionally compare the NPAS3-HAR202 region across species, focusing on human-specific changes.
  • To investigate the impact of human accelerated regions on neurodevelopmental gene regulation and brain evolution.

Main Methods:

  • Comparative enhancer reporter assays were conducted in transgenic zebrafish and mice using orthologs of NPAS3-HAR202.
  • Functional analysis included generating knockout mice lacking HAR202 to assess its role in Npas3 expression.

Main Results:

  • The modern human NPAS3-HAR202 ortholog showed a loss of enhancer activity in the developing nervous systems of both zebrafish and mice.
  • Archaic human (Neanderthal/Denisovan) HAR202 orthologs retained broad vertebrate expression, unlike the modern human version.
  • Mice lacking HAR202 exhibited significantly reduced Npas3 expression in the developing forebrain.

Conclusions:

  • NPAS3-HAR202 is a neurodevelopmental transcriptional enhancer that has undergone functional evolution specifically in the human lineage.
  • This rapid molecular evolution in HAR202 likely contributes to human-specific brain development and cognitive abilities.