• We are sorry, but NCBI web applications do not support your browser and may not function properly. More information
Logo of pnasPNASInfo for AuthorsSubscriptionsAboutThis Article
Proc Natl Acad Sci U S A. Apr 12, 1994; 91(8): 2950–2954.

Invasion and maintenance of a gene duplication.


The ubiquity of multigene families is evidence for the frequent occurrence of gene duplication, but the origin of multigene families from a single gene remains a little-studied aspect of genome evolution. Although it is clear that a duplication can arise and become fixed in a population purely by random genetic drift and that the rate of fixation is accelerated if the duplication is directly advantageous, the nature of gene duplication suggests that other factors may influence the fate of a novel duplication. In the face of disadvantageous loss-of-function mutations, duplication of a functional gene may provide a buffer against such mutations. Here the conditions for invasion of a rare duplication starting from a mutation-selection balance are derived with formal population genetic models in both haploids and diploids. Recurrent duplication protects the duplicated chromosome from loss and can be very effective in increasing its frequency in a population. In the absence of recurrent duplication, one might suppose that a duplication would be favored by natural selection because it can mask the effects of deleterious mutations. However, the models show that a duplication can invade only if it provides a direct advantage to the organism. This result is closely related to recent theoretical work on the evolution of ploidy.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (1.0M), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Ohta T. On the evolution of multigene families. Theor Popul Biol. 1983 Apr;23(2):216–240. [PubMed]
  • Nagylaki T. The evolution of multigene families under intrachromosomal gene conversion. Genetics. 1984 Mar;106(3):529–548. [PMC free article] [PubMed]
  • Ohta T. How gene families evolve. Theor Popul Biol. 1990 Feb;37(1):213–219. [PubMed]
  • Higgs DR, Wood WG, Jarman AP, Vickers MA, Wilkie AO, Lamb J, Vyas P, Bennett JP. The alpha-thalassemias. Ann N Y Acad Sci. 1990;612:15–22. [PubMed]
  • Ohta T. Time for acquiring a new gene by duplication. Proc Natl Acad Sci U S A. 1988 May;85(10):3509–3512. [PMC free article] [PubMed]
  • Kimura M. Average time until fixation of a mutant allele in a finite population under continued mutation pressure: Studies by analytical, numerical, and pseudo-sampling methods. Proc Natl Acad Sci U S A. 1980 Jan;77(1):522–526. [PMC free article] [PubMed]
  • Ohta T. Simulating evolution by gene duplication. Genetics. 1987 Jan;115(1):207–213. [PMC free article] [PubMed]
  • Goossens M, Dozy AM, Embury SH, Zachariades Z, Hadjiminas MG, Stamatoyannopoulos G, Kan YW. Triplicated alpha-globin loci in humans. Proc Natl Acad Sci U S A. 1980 Jan;77(1):518–521. [PMC free article] [PubMed]
  • Enver T, Raich N, Ebens AJ, Papayannopoulou T, Costantini F, Stamatoyannopoulos G. Developmental regulation of human fetal-to-adult globin gene switching in transgenic mice. Nature. 1990 Mar 22;344(6264):309–313. [PubMed]
  • Albitar M, Katsumata M, Liebhaber SA. Human alpha-globin genes demonstrate autonomous developmental regulation in transgenic mice. Mol Cell Biol. 1991 Jul;11(7):3786–3794. [PMC free article] [PubMed]
  • Ohta T. The mutational load of a multigene family with uniform members. Genet Res. 1989 Apr;53(2):141–145. [PubMed]
  • Kondrashov AS, Crow JF. Haploidy or diploidy: which is better? Nature. 1991 May 23;351(6324):314–315. [PubMed]
  • Perrot V, Richerd S, Valéro M. Transition from haploidy to diploidy. Nature. 1991 May 23;351(6324):315–317. [PubMed]
  • Otto SP, Goldstein DB. Recombination and the evolution of diploidy. Genetics. 1992 Jul;131(3):745–751. [PMC free article] [PubMed]
  • Bengtsson BO. Deleterious mutations and the origin of the meiotic ploidy cycle. Genetics. 1992 Jul;131(3):741–744. [PMC free article] [PubMed]

Articles from Proceedings of the National Academy of Sciences of the United States of America are provided here courtesy of National Academy of Sciences


Related citations in PubMed

See reviews...See all...

Cited by other articles in PMC

See all...


  • MedGen
    Related information in MedGen
  • PubMed
    PubMed citations for these articles

Recent Activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...