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The Impact of Gene Duplication on Human Genome Evolution

  1. James A Cotton

Published Online: 14 MAR 2008

DOI: 10.1002/9780470015902.a0020841



How to Cite

Cotton, J. A. 2008. The Impact of Gene Duplication on Human Genome Evolution. eLS. .

Author Information

  1. University of London, School of Biological and Chemical Sciences, Queen Mary, London, UK

Publication History

  1. Published Online: 14 MAR 2008


Gene duplication has had a significant impact on all genomes and the human genome is no exception, as gene duplication contributes much of the raw material from which natural selection shapes novel genes. In the context of human evolution, interest in gene duplication has been intense as the human genome is particularly rich in duplicated genomic regions. These duplicate genes contribute to genomic instability, leading to genome rearrangement and speciation. Recent evidence suggests that duplicated genes have undergone greater diversification than other loci in the human lineage, and so have been key in the evolution of uniquely human traits.


  • 2R hypothesis;
  • human evolution;
  • speciation;
  • population genetics;
  • selection