title: Copy number variation and evolution in humans and chimpanzees.
abstract: Copy number variants (CNVs) underlie many aspects of human phenotypic diversity and provide the raw material for gene duplication and gene family expansion. However, our understanding of their evolutionary significance remains limited. We performed comparative genomic hybridization on a single human microarray platform to identify CNVs among the genomes of 30 humans and 30 chimpanzees as well as fixed copy number differences between species. We found that human and chimpanzee CNVs occur in orthologous genomic regions far more often than expected by chance and are strongly associated with the presence of highly homologous intrachromosomal segmental duplications. By adapting population genetic analyses for use with copy number data, we identified functional categories of genes that have likely evolved under purifying or positive selection for copy number changes. In particular, duplications and deletions of genes with inflammatory response and cell proliferation functions may have been fixed by positive selection and involved in the adaptive phenotypic differentiation of humans and chimpanzees.
authors.affiliation: School of Human Evolution & Social Change, Arizona State University, Tempe, Arizona 85287, USA.
authors.forename: George H
authors.initials: GH
authors.lastname: Perry
authors.forename: Fengtang
authors.initials: F
authors.lastname: Yang
authors.forename: Tomas
authors.initials: T
authors.lastname: Marques-Bonet
authors.forename: Carly
authors.initials: C
authors.lastname: Murphy
authors.forename: Tomas
authors.initials: T
authors.lastname: Fitzgerald
authors.forename: Arthur S
authors.initials: AS
authors.lastname: Lee
authors.forename: Courtney
authors.initials: C
authors.lastname: Hyland
authors.forename: Anne C
authors.initials: AC
authors.lastname: Stone
authors.forename: Matthew E
authors.initials: ME
authors.lastname: Hurles
authors.forename: Chris
authors.initials: C
authors.lastname: Tyler-Smith
authors.forename: Evan E
authors.initials: EE
authors.lastname: Eichler
authors.forename: Nigel P
authors.initials: NP
authors.lastname: Carter
authors.forename: Charles
authors.initials: C
authors.lastname: Lee
authors.forename: Richard
authors.initials: R
authors.lastname: Redon
mesh_terms: D000818:Animals; D001483:Base Sequence; D005075:Biological Evolution; D002877:Chromosomes, Human / Q000235:genetics; D055028:Comparative Genomic Hybridization; D017931:DNA Primers / Q000235:genetics; D018628:Gene Dosage; D014644:Genetic Variation; D015894:Genome, Human; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D020411:Oligonucleotide Array Sequence Analysis; D002679:Pan troglodytes / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D013045:Species Specificity
chemical_list: D017931:DNA Primers
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