RT Journal
A1 Perry, George H.
A1 Yang, Fengtang
A1 Marques-Bonet, Tomas
A1 Murphy, Carly
A1 Fitzgerald, Tomas
A1 Lee, Arthur S.
A1 Hyland, Courtney
A1 Stone, Anne C.
A1 Hurles, Matthew E.
A1 Tyler-Smith, Chris
A1 Eichler, Evan E.
A1 Carter, Nigel P.
A1 Lee, Charles
A1 Redon, Richard
T1 Copy number variation and evolution in humans and chimpanzees
JF Genome Research 
JO Genome Research 
YR 2008 
FD November 01 
VO 18 
IS 11 
SP 1698 
OP 1710 
DO 10.1101/gr.082016.108 
UL http://genome.cshlp.org/content/18/11/1698.abstract 
AB 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.