Hotspots for copy number variation in chimpanzees and humans.
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.
Perry
George H
GH
School of Human Evolution and Social Change, Arizona State University, Tempe, AZ 85287, USA.
Tchinda
Joelle
J
McGrath
Sean D
SD
Zhang
Junjun
J
Picker
Simon R
SR
Cáceres
Angela M
AM
Iafrate
A John
AJ
Tyler-Smith
Chris
C
Scherer
Stephen W
SW
Eichler
Evan E
EE
Stone
Anne C
AC
Lee
Charles
C
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