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PMID: 18775914 Published · ppublish English Comparative Study Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Copy number variation and evolution in humans and chimpanzees.

Genome research ·Vol. 18 ·No. 11 ·2008-11-00 ·Pages 1698-710

Perry GH, Yang F, Marques-Bonet T, Murphy C, Fitzgerald T, Lee AS, Hyland C, Stone AC, Hurles ME, Tyler-Smith C, Eichler EE, Carter NP, Lee C, Redon R

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.

MeSH Terms
Animals Base Sequence Biological Evolution Chromosomes, Human/genetics Comparative Genomic Hybridization DNA Primers/genetics Gene Dosage Genetic Variation Genome, Human Humans In Situ Hybridization, Fluorescence Oligonucleotide Array Sequence Analysis Pan troglodytes/genetics Polymerase Chain Reaction Polymorphism, Genetic Species Specificity
Chemicals
DNA Primers
Authors & Affiliations
14 authors, click to expand affiliations / ORCID
Perry George H
School of Human Evolution & Social Change, Arizona State University, Tempe, Arizona 85287, USA.
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
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Article Info
Journal
Genome research
Abbr.
Genome Res
ISSN
1088-9051
DOI
10.1101/gr.082016.108
Published
2008-11-00
Epub
2008-00-04
Pages
1698-710
Language
English
Region
United States
NLM ID
9518021
PMCID
PMC2577862
Subset
IM
Grants
Wellcome Trust · United Kingdom
Howard Hughes Medical Institute · United States
NCRR NIH HHS · RR014491 · United States
NCRR NIH HHS · U42 RR015087 · United States
NCRR NIH HHS · RR015087 · United States
NCRR NIH HHS · C06 RR016483 · United States
NCRR NIH HHS · C06 RR014491 · United States
NHGRI NIH HHS · P41 HG004221 · United States
NHGRI NIH HHS · HG004221 · United States
NCRR NIH HHS · RR016483 · United States
External Links
PubMed source DOI: 10.1101/gr.082016.108 PMC Full Text View journal details
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