Copy number variation and evolution in humans and chimpanzees

George H. Perry, Fengtang Yang, Tomas Marques-Bonet, Carly Murphy, Tomas Fitzgerald, Arthur S. Lee, Courtney Hyland, Anne C. Stone, Matthew E. Hurles, Chris Tyler-Smith, Evan E. Eichler, Nigel P. Carter, Charles Lee, Richard Redon

Research output: Contribution to journalArticle

168 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1698-1710
Number of pages13
JournalGenome research
Volume18
Issue number11
DOIs
StatePublished - Nov 2008

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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    Perry, G. H., Yang, F., Marques-Bonet, T., Murphy, C., Fitzgerald, T., Lee, A. S., Hyland, C., Stone, A. C., Hurles, M. E., Tyler-Smith, C., Eichler, E. E., Carter, N. P., Lee, C., & Redon, R. (2008). Copy number variation and evolution in humans and chimpanzees. Genome research, 18(11), 1698-1710. https://doi.org/10.1101/gr.082016.108