Targets of balancing selection in the human genome

  • Andres A
  • Hubisz M
  • Indap A
 et al. 
  • 9

    Readers

    Mendeley users who have this article in their library.
  • N/A

    Citations

    Citations of this article.

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.

Author-supplied keywords

  • *Selection, Genetic
  • Alleles
  • Chromosome Segregation/genetics
  • Demography
  • Genome, Human/*genetics
  • Haplotypes/genetics
  • Humans
  • Quantitative Trait, Heritable
  • Sequence Analysis, DNA

Get free article suggestions today

Mendeley saves you time finding and organizing research

Sign up here
Already have an account ?Sign in

Authors

  • A M Andres

  • M J Hubisz

  • A Indap

  • D G Torgerson

  • J D Degenhardt

  • A R Boyko

Cite this document

Choose a citation style from the tabs below

Save time finding and organizing research with Mendeley

Sign up for free