1. Multiple Instances of Ancient Balancing Selection Shared Between Humans and Chimpanzees
- Author
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Jeffrey D. Wall, Molly Przeworski, Peter Donnelly, Rory Bowden, Guy Sella, Laure Ségurel, Ellen M. Leffler, Ziyue Gao, Oliver Venn, Ronald E. Bontrop, Susanne P. Pfeifer, Gilean McVean, Adam Auton, State Key Laboratory of Chemical Engineering, School of Chemical Engineering and Technology, Max Planck Institute for Meteorology (MPI-M), Max-Planck-Gesellschaft, University of Chicago, Department of Comparative Genetics and Refinement [Rijswijk, The Netherlands], Biomedical Primate Research Centre [Rijswijk] (BPRC), Laboratoire d'Anthropologie, and Université de Turin
- Subjects
0106 biological sciences ,Pan troglodytes ,General Science & Technology ,Molecular Sequence Data ,Population ,Single-nucleotide polymorphism ,Biology ,Balancing selection ,Major histocompatibility complex ,Polymorphism, Single Nucleotide ,010603 evolutionary biology ,01 natural sciences ,Article ,03 medical and health sciences ,Genetic ,Clinical Research ,Genetic variation ,Genetics ,Animals ,Humans ,Selection, Genetic ,Polymorphism ,education ,Selection ,Gene ,Genetic Association Studies ,ComputingMilieux_MISCELLANEOUS ,030304 developmental biology ,0303 health sciences ,education.field_of_study ,Genome ,Multidisciplinary ,Natural selection ,[SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE] ,Base Sequence ,Genome, Human ,Human Genome ,Haplotype ,Single Nucleotide ,Pedigree ,Haplotypes ,Host-Pathogen Interactions ,biology.protein ,Human - 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 (MHC), we identified 125 regions in which the same haplotypes are segregating in the two species, all but two of which are non-coding. 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.
- Published
- 2013