Targets of balancing selection in the human genome

Aida M. Andrés, Melissa J. Hubisz, Amit Indap, Dara G. Torgerson, Jeremiah D. Degenhardt, Adam R. Boyko, Ryan N Gutenkunst, Thomas J. White, Eric D. Green, Carlos D. Bustamante, Andrew G. Clark, Rasmus Nielsen

Research output: Contribution to journalArticle

154 Citations (Scopus)

Abstract

Balancing selection is potentially an important biological force for maintaining advantageous genetic diversity in populations, including variation that is responsible for long-term adaptation to the environment. By serving as a means to maintain genetic variation, it may be particularly relevant to maintaining phenotypic variation in natural populations. Nevertheless, its prevalence and specific targets in the human genome remain largely unknown. We have analyzed the patterns of diversity and divergence of 13,400 genes in two human populations using an unbiased single-nucleotide polymorphism data set, a genome-wide approach, and a method that incorporates demography in neutrality tests. We identified an unbiased catalog of genes with signatures of long-term balancing selection, which includes immunity genes as well as genes encoding keratins and membrane channels; the catalog also shows enrichment in functional categories involved in cellular structure. Patterns are mostly concordant in the two populations, with a small fraction of genes showing population-specific signatures of selection. Power considerations indicate that our findings represent a subset of all targets in the genome, suggesting that although balancing selection may not have an obvious impact on a large proportion of human genes, it is a key force affecting the evolution of a number of genes in humans.

Original languageEnglish (US)
Pages (from-to)2755-2764
Number of pages10
JournalMolecular Biology and Evolution
Volume26
Issue number12
DOIs
StatePublished - Dec 2009
Externally publishedYes

Fingerprint

Human Genome
genome
gene
Genes
genes
Population
Genome
genetic variation
keratin
cell structures
Cellular Structures
Keratins
immunity
demography
Ion Channels
phenotypic variation
human population
single nucleotide polymorphism
Single Nucleotide Polymorphism
Immunity

Keywords

  • Frequency-dependent selection
  • Heterosis
  • Human diversity
  • Human evolution
  • Overdominance
  • Population genetics

ASJC Scopus subject areas

  • Genetics
  • Molecular Biology
  • Ecology, Evolution, Behavior and Systematics

Cite this

Andrés, A. M., Hubisz, M. J., Indap, A., Torgerson, D. G., Degenhardt, J. D., Boyko, A. R., ... Nielsen, R. (2009). Targets of balancing selection in the human genome. Molecular Biology and Evolution, 26(12), 2755-2764. https://doi.org/10.1093/molbev/msp190

Targets of balancing selection in the human genome. / Andrés, Aida M.; Hubisz, Melissa J.; Indap, Amit; Torgerson, Dara G.; Degenhardt, Jeremiah D.; Boyko, Adam R.; Gutenkunst, Ryan N; White, Thomas J.; Green, Eric D.; Bustamante, Carlos D.; Clark, Andrew G.; Nielsen, Rasmus.

In: Molecular Biology and Evolution, Vol. 26, No. 12, 12.2009, p. 2755-2764.

Research output: Contribution to journalArticle

Andrés, AM, Hubisz, MJ, Indap, A, Torgerson, DG, Degenhardt, JD, Boyko, AR, Gutenkunst, RN, White, TJ, Green, ED, Bustamante, CD, Clark, AG & Nielsen, R 2009, 'Targets of balancing selection in the human genome', Molecular Biology and Evolution, vol. 26, no. 12, pp. 2755-2764. https://doi.org/10.1093/molbev/msp190
Andrés AM, Hubisz MJ, Indap A, Torgerson DG, Degenhardt JD, Boyko AR et al. Targets of balancing selection in the human genome. Molecular Biology and Evolution. 2009 Dec;26(12):2755-2764. https://doi.org/10.1093/molbev/msp190
Andrés, Aida M. ; Hubisz, Melissa J. ; Indap, Amit ; Torgerson, Dara G. ; Degenhardt, Jeremiah D. ; Boyko, Adam R. ; Gutenkunst, Ryan N ; White, Thomas J. ; Green, Eric D. ; Bustamante, Carlos D. ; Clark, Andrew G. ; Nielsen, Rasmus. / Targets of balancing selection in the human genome. In: Molecular Biology and Evolution. 2009 ; Vol. 26, No. 12. pp. 2755-2764.
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