Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
Mol Biol Evol. 2009 Dec;26(12):2755-64. doi: 10.1093/molbev/msp190. Epub 2009 Aug 27.

Targets of balancing selection in the human genome.

Author information

  • 1Department of Molecular Biology and Genetics, Cornell University, USA. andresa@mail.nih.gov

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.

PMID:
19713326
[PubMed - indexed for MEDLINE]
PMCID:
PMC2782326
Free PMC Article

Images from this publication.See all images (3)Free text

F IG . 1.—
F IG . 2.—
F IG . 3.—
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for HighWire Icon for PubMed Central Icon for Faculty of 1000
    Loading ...
    Write to the Help Desk