title: Scan of human genome reveals no new Loci under ancient balancing selection.
abstract: There has been much speculation as to what role balancing selection has played in evolution. In an attempt to identify regions, such as HLA, at which polymorphism has been maintained in the human population for millions of years, we scanned the human genome for regions of high SNP density. We found 16 regions that, outside of HLA and ABO, are the most highly polymorphic regions yet described; however, evidence for balancing selection at these sites is notably lacking--indeed, whole-genome simulations indicate that our findings are expected under neutrality. We propose that (i) because it is rarely stable, long-term balancing selection is an evolutionary oddity, and (ii) when a balanced polymorphism is ancient in origin, the requirements for detection by means of SNP data alone will rarely be met.
authors.affiliation: Department of Genome Sciences, University of Washington Genome Center, Seattle, Washington 98195, USA. kbubb@u.washington.edu
authors.forename: K L
authors.initials: KL
authors.lastname: Bubb
authors.forename: D
authors.initials: D
authors.lastname: Bovee
authors.forename: D
authors.initials: D
authors.lastname: Buckley
authors.forename: E
authors.initials: E
authors.lastname: Haugen
authors.forename: M
authors.initials: M
authors.lastname: Kibukawa
authors.forename: M
authors.initials: M
authors.lastname: Paddock
authors.forename: A
authors.initials: A
authors.lastname: Palmieri
authors.forename: S
authors.initials: S
authors.lastname: Subramanian
authors.forename: Y
authors.initials: Y
authors.lastname: Zhou
authors.forename: R
authors.initials: R
authors.lastname: Kaul
authors.forename: P
authors.initials: P
authors.lastname: Green
authors.forename: M V
authors.initials: MV
authors.lastname: Olson
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics*; D019143:Evolution, Molecular; D005260:Female; D015894:Genome, Human / Q000235:genetics*; D006680:HLA Antigens / Q000235:genetics*; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D012641:Selection, Genetic
chemical_list: D000017:ABO Blood-Group System; D006680:HLA Antigens