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Transposable element insertions have strongly affected human evolution.

Roy J Britten1

  • 1Division of Biology, California Institute of Technology, Pasadena, CA 91125, USA. r.britten@ca.rr.com

Proceedings of the National Academy of Sciences of the United States of America
|November 3, 2010
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Summary

Active transposable elements (TEs) in the human genome, particularly young Alus, have recently inserted and influenced evolution. These TE insertions likely drove rapid human lineage evolution, including brain size changes over the last few million years.

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Area of Science:

  • Genomics
  • Evolutionary Biology
  • Molecular Biology

Background:

  • The human genome contains numerous transposable elements (TEs).
  • Recent TE insertions, especially young Alu elements, are prevalent in the human genome.
  • TE insertions are known to impact gene expression, recombination, and genome evolution.

Purpose of the Study:

  • To compare vertebrate TE sequences with genome sequences.
  • To investigate the role of recent TE insertions in human lineage evolution.
  • To propose a model for how TE insertions contributed to human-specific evolution.

Main Methods:

  • Comparative genomics analysis of TE sequences across vertebrates.
  • Identification and characterization of full-length TE matches in the human genome.
  • Analysis of the timing and impact of TE insertions in the human lineage.

Main Results:

  • The human genome exhibits 655 perfect full-length TE matches, indicating recent activity.
  • Young Alu elements (AluYa5, AluYb8, AluYc1) are among the most active TEs causing recent insertions.
  • These insertions have been linked to changes in gene expression and recombination, dating back approximately 4 million years.

Conclusions:

  • Recent TE insertions, particularly Alus, are a significant factor in human lineage evolution.
  • These insertions likely provided the genetic variation upon which natural selection acted.
  • TE-driven genomic changes contributed to rapid human evolution, including increases in brain size.