ArticleGenome research2011
Copy number variation analysis in the great apes reveals species-specific patterns of structural variation.
Article in Genome research, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.
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Who cites it
51 citing papers in PubMed.
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- Defining the scope of extended NIPS in Western China: evidence from a large cohort of fetuses with normal ultrasound scans.BMC pregnancy and childbirth · 2023Article
- Copy number variation underlies complex phenotypes in domestic dog breeds and other canids.Genome research · 2021Article
- Origins and Long-Term Patterns of Copy-Number Variation in Rhesus Macaques.Molecular biology and evolution · 2021Article
- Correspondence of aCGH and long-read genome assembly for detection of copy number differences: A proof-of-concept with cichlid genomes.PloS one · 2021Article
- Differential DNA methylation in somatic and sperm cells of hatchery vs wild (natural-origin) steelhead trout populations.Environmental epigenetics · 2021Article
- Genomic Copy Number Variation Study of Nine Macaca Species Provides New Insights into Their Genetic Divergence, Adaptation, and Biomedical Application.Genome biology and evolution · 2020Article
- The Genomic Substrate for Adaptive Radiation: Copy Number Variation across 12 Tribes of African Cichlid Species.Genome biology and evolution · 2019Article
- B4GALNT2 and xenotransplantation: A newly appreciated xenogeneic antigen.Xenotransplantation · 2018Review
- Repeat associated mechanisms of genome evolution and function revealed by theGenome research · 2018Article
- A copy number variant scan in the autochthonous Valdostana Red Pied cattle breed and comparison with specialized dairy populations.PloS one · 2018Article
- Copy number variation and disease resistance in plants.TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik · 2017Review
- The value of new genome references.Experimental cell research · 2017Review
- Article
- High mutation rates explain low population genetic divergence at copy-number-variable loci in Homo sapiens.Scientific reports · 2017Article
- Structure and evolution of the filaggrin gene repeated region in primates.BMC evolutionary biology · 2017Article
- Distribution and Functionality of Copy Number Variation across European Cattle Populations.Frontiers in genetics · 2017Article
- [Clinical phenotypes and copy number variations in children with microdeletion and microduplication syndromes: an analysis of 50 cases].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2016Article
- The impact and origin of copy number variations in the Oryza species.BMC genomics · 2016Article
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14 authors.
Funding
Abstract
Copy number variants (CNVs) are increasingly acknowledged as an important source of evolutionary novelties in the human lineage. However, our understanding of their significance is still hindered by the lack of primate CNV data. We performed intraspecific comparative genomic hybridizations to identify loci harboring copy number variants in each of the four great apes: bonobos, chimpanzees, gorillas, and orangutans. For the first time, we could analyze differences in CNV location and frequency in these four species, and compare them with human CNVs and primate segmental duplication (SD) maps. In addition, for bonobo and gorilla, patterns of CNV and nucleotide diversity were studied in the same individuals. We show that CNVs have been subject to different selective pressures in different lineages. Evidence for purifying selection is stronger in gorilla CNVs overlapping genes, while positive selection appears to have driven the fixation of structural variants in the orangutan lineage. In contrast, chimpanzees and bonobos present high levels of common structural polymorphism, which is indicative of relaxed purifying selection together with the higher mutation rates induced by the known burst of segmental duplication in the ancestor of the African apes. Indeed, the impact of the duplication burst is noticeable by the fact that bonobo and chimpanzee share more CNVs with gorilla than expected. Finally, we identified a number of interesting genomic regions that present high-frequency CNVs in all great apes, while containing only very rare or even pathogenic structural variants in humans.
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