ArticleGenome biology2011
Refinement of primate copy number variation hotspots identifies candidate genomic regions evolving under positive selection.
Article in Genome biology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed.
- Long-read structural variant discovery and targeted short read genotyping enables population scale characterization of structural variation in rhesus macaques.Genome biology · 2025Article
- Universal signatures of transposable element compartmentalization across eukaryotic genomes.bioRxiv : the preprint server for biology · 2024Article
- Amniotes co-opt intrinsic genetic instability to protect germ-line genome integrity.Nature communications · 2023Article
- Accumulation of gene copy number variations during the early phase of free-spawning abalone speciation.Ecology and evolution · 2023Article
- Review
- Placental methylome reveals a 22q13.33 brain regulatory gene locus associated with autism.Genome biology · 2022Article
- Comprehensive analysis of structural variants in chickens using PacBio sequencing.Frontiers in genetics · 2022Article
- Origins and Long-Term Patterns of Copy-Number Variation in Rhesus Macaques.Molecular biology and evolution · 2021Article
- Genetic-variant hotspots and hotspot clusters in the human genome facilitating adaptation while increasing instability.Human genomics · 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
- Characterization of the primate TRIM gene family reveals the recent evolution in primates.Molecular genetics and genomics : MGG · 2020Article
- An Evolutionary Perspective on the Impact of Genomic Copy Number Variation on Human Health.Journal of molecular evolution · 2020Review
- Fine-Scale Characterization of Genomic Structural Variation in the Human Genome Reveals Adaptive and Biomedically Relevant Hotspots.Genome biology and evolution · 2019Article
- Comparative genome-wide survey of single nucleotide variation uncovers the genetic diversity and potential biomedical applications among six Macaca species.International journal of molecular sciences · 2018Article
- B4GALNT2 and xenotransplantation: A newly appreciated xenogeneic antigen.Xenotransplantation · 2018Review
- Complex evolution of the GSTM gene family involves sharing of GSTM1 deletion polymorphism in humans and chimpanzees.BMC genomics · 2018Article
- VCFtoTree: a user-friendly tool to construct locus-specific alignments and phylogenies from thousands of anthropologically relevant genome sequences.BMC bioinformatics · 2017Article
- Recent evolution of the salivary mucin MUC7.Scientific reports · 2016Article
- Effects of copy number variable regions on local gene expression in white blood cells of Mexican Americans.European journal of human genetics : EJHG · 2015Article
- The evolution and functional impact of human deletion variants shared with archaic hominin genomes.Molecular biology and evolution · 2015Article
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11 authors.
Funding
Abstract
backgroundCopy number variants (CNVs), defined as losses and gains of segments of genomic DNA, are a major source of genomic variation.
resultsIn this study, we identified over 2,000 human CNVs that overlap with orthologous chimpanzee or orthologous macaque CNVs. Of these, 170 CNVs overlap with both chimpanzee and macaque CNVs, and these were collapsed into 34 hotspot regions of CNV formation. Many of these hotspot regions of CNV formation are functionally relevant, with a bias toward genes involved in immune function, some of which were previously shown to evolve under balancing selection in humans. The genes in these primate CNV formation hotspots have significant differential expression levels between species and show evidence for positive selection, indicating that they have evolved under species-specific, directional selection.
conclusionsThese hotspots of primate CNV formation provide a novel perspective on divergence and selective pressures acting on these genomic regions.
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