title: Multiple instances of ancient balancing selection shared between humans and chimpanzees.
abstract: Instances in which natural selection maintains genetic variation in a population over millions of years are thought to be extremely rare. We conducted a genome-wide scan for long-lived balancing selection by looking for combinations of SNPs shared between humans and chimpanzees. In addition to the major histocompatibility complex, we identified 125 regions in which the same haplotypes are segregating in the two species, all but two of which are noncoding. In six cases, there is evidence for an ancestral polymorphism that persisted to the present in humans and chimpanzees. Regions with shared haplotypes are significantly enriched for membrane glycoproteins, and a similar trend is seen among shared coding polymorphisms. These findings indicate that ancient balancing selection has shaped human variation and point to genes involved in host-pathogen interactions as common targets.
authors: Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA. emleffler@uchicago.edu
authors: Ellen M
authors: EM
authors: Leffler
authors: Ziyue
authors: Z
authors: Gao
authors: Susanne
authors: S
authors: Pfeifer
authors: Laure
authors: L
authors: Ségurel
authors: Adam
authors: A
authors: Auton
authors: Oliver
authors: O
authors: Venn
authors: Rory
authors: R
authors: Bowden
authors: Ronald
authors: R
authors: Bontrop
authors: Jeffrey D
authors: JD
authors: Wall
authors: Guy
authors: G
authors: Sella
authors: Peter
authors: P
authors: Donnelly
authors: Gilean
authors: G
authors: McVean
authors: Molly
authors: M
authors: Przeworski
mesh_terms: D000818:Animals; D001483:Base Sequence; D056726:Genetic Association Studies; D015894:Genome, Human / Q000235:genetics*; D006239:Haplotypes; D054884:Host-Pathogen Interactions / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D002679:Pan troglodytes / Q000235:genetics*; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D012641:Selection, Genetic