The Impact of Gene Duplication on Human Genome Evolution

Abstract

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.

Keywords: 2R hypothesis; human evolution; speciation; population genetics; selection

Figure 1.

The age distribution of human duplicate genes. Reproduced from Cotton JA and Page RDM Rates and patterns of gene duplication and loss in the human genome. Proceedings of the Royal Society of London, Series B272: 277–283).

Figure 2.

Approximate age distribution of human segmental duplications of at least 1 kb length and 90% identity, assuming a strict molecular clock for silent‐site substitutions. Data is from human genome segmental duplication database, http://projects.tcag.ca/humandup/.

Figure 3.

How duplicated genes promote genome rearrangement through homologous recombination. (a) Recombination between duplicate loci on homologous chromosomes can lead to further duplication and loss, where duplicates are in the same orientation. (b) Duplicates in opposite orientations can produce inversions by intra‐chromosomal recombination, while (c) recombination between duplicates on nonhomologous chromosomes can lead to translocation of material between them.

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Further Reading

Conrad B and Antonarakis SE (2007) Gene duplication: a drive for phenotypic diversity and cause of human disease. Annual Review of Genomics and Human Genetics 8: 2.1–2.19.

Donoghue PCJ and Purnell MA (2005) Genome duplication, extinction and vertebrate evolution. Trends in Ecology and Evolution 20: 312–319.

Fortna A, Kim Y, MacLaren W et al. (2004) Lineage‐specific gene duplication and loss in human and great ape evolution. PLoS Biology 2: e307.

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Taylor JS and Raes J (2004) Duplication and divergence: the evolution of new genes and old ideas. Annual Review of Genetics 38: 615–643.

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How to Cite close
Cotton, James A(Mar 2008) The Impact of Gene Duplication on Human Genome Evolution. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0020841]