In This Article Expand or collapse the "in this article" section Gene Duplication

  • Introduction
  • General Overviews
  • Journals
  • History
  • Mechanisms of Gene Duplication
  • Fixation of Duplicate Genes
  • Copy Number Variation
  • Pseudogenization after Duplication
  • Stable Retention of Duplicate Genes
  • Rate of Gene Duplication
  • Determinants of Gene Duplicability
  • Functional Redundancy among Duplicate Genes
  • Mechanisms of Long-Term Maintenance of Functional Redundancy
  • Functional Diversification of Duplicate Genes
  • Outstanding Questions

Evolutionary Biology Gene Duplication
Jianzhi Zhang
  • LAST REVIEWED: 16 March 2022
  • LAST MODIFIED: 13 January 2014
  • DOI: 10.1093/obo/9780199941728-0002


Gene duplication refers to the duplication of a segment of DNA that contains one or more genes. Gene duplication is the primary source of new genes in evolution, and duplicate genes form gene families that are abundantly found in almost all genomes. For these reasons, gene duplication has been a main focus of molecular evolutionary study for decades. Recent years have also seen examples of harmful gene duplication that causes diseases, which bring gene duplication to the attention of human and medical geneticists. Our knowledge about gene duplication has increased substantially in the last decade, due in a large part to the rapid accumulation of gene sequence and functional data at the genomic scale. We now have a basic understanding of gene duplication, including how it occurs, how often it occurs, and the common routes of duplicate gene evolution. A number of key questions remain unresolved, however, concerning issues such as the primary force behind the fixation of new gene duplicates and the relative probabilities of various modes of functional changes in duplicate genes. Mathematical modeling, large-scale genomic analysis, detailed functional study of individual genes, and laboratory experimental evolution of microbes are being used to tackle these remaining questions.

General Overviews

There are a few books on gene duplication. Ohno 1970 is a classic book that forcefully argued for the importance of gene duplication in evolution and substantially raised evolutionary biologists’ interest in the topic. Ohta 1980 is a monograph that included the author’s theoretical population genetic analysis of gene duplication and gene family evolution. Two edited volumes on gene and genome duplication were published in the early 21st century: Meyer and van de Peer 2003 and Dittmar and Liberles 2010. In addition, a number of reviews discuss the progress in various aspects of the study of gene duplication. For instance, Wolfe 2001 reviews the process of genome duplication and its aftermath, Conant and Wolfe 2008 reviews functional changes after gene duplication, Innan and Kondrashov 2010 discusses various evolutionary models of duplicate genes, and Zhang 2013 provides a comprehensive overview of the mechanisms of gene duplication and the evolution of duplicate genes.

  • Conant, G. C., and K. H. Wolfe. 2008. Turning a hobby into a job: How duplicated genes find new functions. Nature Reviews Genetics 9.12: 938–950.

    DOI: 10.1038/nrg2482

    A review on the types and mechanisms of functional changes after gene duplication.

  • Dittmar, K., and D. A. Liberles. 2010. Evolution after Gene Duplication. Hoboken, NJ: Wiley-Blackwell.

    DOI: 10.1002/9780470619902

    The most recent book on gene duplication, this edited volume examines post-duplication gene evolution and focuses on the mechanisms governing the retention and evolution of duplicate genes.

  • Innan, H., and F. Kondrashov. 2010. The evolution of gene duplications: Classifying and distinguishing between models. Nature Reviews Genetics 11.2: 97–108.

    A review on the existing models describing the fixation and evolution of duplicate genes.

  • Meyer, A., and Y. van de Peer, eds. 2003. Genome evolution: Gene and genome duplications and the origin of novel gene functions. Dordrecht, The Netherlands, and Boston: Kluwer Academic.

    The first comprehensive book on gene duplication since Ohno 1970, this edited volume examines the molecular and genomic evidence for the prevalence and evolutionary contribution of gene duplication.

  • Ohno, S. 1970. Evolution by gene duplication. Berlin and New York: Springer-Verlag.

    The first and arguably the most important book on gene duplication, it proposes a central role of gene duplication in the origin of new genes and new gene functions in evolution.

  • Ohta, T. 1980. Evolution and variation of multigene families. Berlin and New York: Springer.

    DOI: 10.1007/978-3-642-93138-3

    Collection of Ohta’s early theoretical studies of gene family evolution.

  • Wolfe, K. H. 2001. Yesterday’s polyploids and the mystery of diploidization. Nature Reviews Genetics 2.5: 333–341.

    DOI: 10.1038/35072009

    Discussing the occurrence and aftermath of genome duplication, this is the first major review of the topic in the genomic era.

  • Zhang, J. 2013. Gene duplication. In The Princeton guide to evolution. Edited by J. Losos. Princeton, NJ: Princeton Univ. Press.

    This review article provides an overview of our current understanding of evolution by gene duplication.

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