title: Hotspots for copy number variation in chimpanzees and humans.
abstract: Copy number variation is surprisingly common among humans and can be involved in phenotypic diversity and variable susceptibility to complex diseases, but little is known of the extent of copy number variation in nonhuman primates. We have used two array-based comparative genomic hybridization platforms to identify a total of 355 copy number variants (CNVs) in the genomes of 20 wild-born chimpanzees (Pan troglodytes) and have compared the identified chimpanzee CNVs to known human CNVs from previous studies. Many CNVs were observed in the corresponding regions in both chimpanzees and humans; especially those CNVs of higher frequency. Strikingly, these loci are enriched 20-fold for ancestral segmental duplications, which may facilitate CNV formation through nonallelic homologous recombination mechanisms. Therefore, some of these regions may be unstable "hotspots" for the genesis of copy number variation, with recurrent duplications and deletions occurring across and within species.
authors.affiliation: School of Human Evolution and Social Change, Arizona State University, Tempe, AZ 85287, USA.
authors.forename: George H
authors.initials: GH
authors.lastname: Perry
authors.forename: Joelle
authors.initials: J
authors.lastname: Tchinda
authors.forename: Sean D
authors.initials: SD
authors.lastname: McGrath
authors.forename: Junjun
authors.initials: J
authors.lastname: Zhang
authors.forename: Simon R
authors.initials: SR
authors.lastname: Picker
authors.forename: Angela M
authors.initials: AM
authors.lastname: Cáceres
authors.forename: A John
authors.initials: AJ
authors.lastname: Iafrate
authors.forename: Chris
authors.initials: C
authors.lastname: Tyler-Smith
authors.forename: Stephen W
authors.initials: SW
authors.lastname: Scherer
authors.forename: Evan E
authors.initials: EE
authors.lastname: Eichler
authors.forename: Anne C
authors.initials: AC
authors.lastname: Stone
authors.forename: Charles
authors.initials: C
authors.lastname: Lee
mesh_terms: D000818:Animals; D019143:Evolution, Molecular; D014644:Genetic Variation; D006801:Humans; D008957:Models, Genetic; D009693:Nucleic Acid Hybridization; D002679:Pan troglodytes; D010641:Phenotype; D011995:Recombination, Genetic; D013045:Species Specificity; D013997:Time Factors