Hotspots for copy number variation in chimpanzees and humans

George H. Perry, Joelle Tchinda, Sean D. McGrath, Junjun Zhang, Simon R. Picker, Angela M. Cáceres, A. John Iafrate, Chris Tyler-Smith, Stephen W. Scherer, Evan E. Eichler, Anne C. Stone, Charles Lee

Research output: Contribution to journalArticlepeer-review

183 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)8006-8011
Number of pages6
JournalProceedings of the National Academy of Sciences of the United States of America
Issue number21
StatePublished - May 23 2006

All Science Journal Classification (ASJC) codes

  • General


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