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Cited by 202

The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.

Copy number variation and evolution in humans and chimpanzees

Perry, George H., Yang, Fengtang, Marques-Bonet, Tomas, Murphy, Carly, Fitzgerald, Tomas, Lee, Arthur S., Hyland, Courtney, Stone, Anne C., Hurles, Matthew E., Tyler-Smith, Chris, Eichler, Evan E., Carter, Nigel P., Lee, Charles, Redon, Richard·2008·Genome Research
DOI 10.1101/gr.082016.108
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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.

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Metadata

Authors
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.
Venue
Genome Research
Publisher
Cold Spring Harbor Laboratory
Published
2008-09-04
Volume
18
Issue
11
Pages
1698-1710
ISSN
1088-9051
DOI
10.1101/gr.082016.108
Cited by
202
References
6
Language
en

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