ArticleGenome research2008
Copy number variation and evolution in humans and chimpanzees.
Article in Genome research, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 145 papers.
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Who cites it
145 citing papers in PubMed.
- Multisample motif discovery and visualization for tandem repeats.Genome research · 2025Article
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- Spontaneous and environment induced genomic alterations in yeast model.Cell insight · 2025Review
- Rare germline structural variants increase risk for pediatric solid tumors.Science (New York, N.Y.) · 2025Article
- Genetic and neuro-epigenetic effects of divergent artificial selection for feather pecking behaviour in chickens.BMC genomics · 2024Article
- Comprehensive evaluation and guidance of structural variation detection tools in chicken whole genome sequence data.BMC genomics · 2024Article
- Genome-Wide Scan for Copy Number Variations in Chinese Merino Sheep Based on Ovine High-Density 600K SNP Arrays.Animals : an open access journal from MDPI · 2024Article
- Rare germline structural variants increase risk for pediatric solid tumors.bioRxiv : the preprint server for biology · 2024Article
- Adaptive functions of structural variants in human brain development.Science advances · 2024Article
- A sequence-aware merger of genomic structural variations at population scale.Nature communications · 2024Article
- Large-scale genomic rearrangements boost SCRaMbLE in Saccharomyces cerevisiae.Nature communications · 2024Article
- Population history modulates the fitness effects of Copy Number Variation in the Roma.Human genetics · 2023Article
- Genomic structural variation: A complex but important driver of human evolution.American journal of biological anthropology · 2023Review
- Genetics of strabismus.Frontiers in ophthalmology · 2023Article
- Biological and genomic analysis of a symbiotic nitrogen fixation defective mutant inFrontiers in plant science · 2023Article
- DNA sequence features underlying large-scale duplications and deletions in human.Journal of applied genetics · 2022Article
- Comprehensive evaluation of structural variant genotyping methods based on long-read sequencing data.BMC genomics · 2022Article
- DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects.Biomedical journal · 2021Review
- Origins and Long-Term Patterns of Copy-Number Variation in Rhesus Macaques.Molecular biology and evolution · 2021Article
- Prioritizing non-coding regions based on human genomic constraint and sequence context with deep learning.Nature communications · 2021Article
85 more citing papers are in PubMed but not listed here.
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Authors and funding
14 authors.
Funding
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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