ArticleProceedings of the National Academy of Sciences of the United States of America2013
Primate genome architecture influences structural variation mechanisms and functional consequences.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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Who cites it
41 citing papers in PubMed, 87 citations in OpenAlex.
- Article
- Long-read structural variant discovery and targeted short read genotyping enables population scale characterization of structural variation in rhesus macaques.Genome biology · 2025Article
- A curated dataset of great ape genome diversity.Scientific data · 2025Article
- A complete and near-perfect rhesus macaque reference genome: lessons from subtelomeric repeats and sequencing bias.bioRxiv : the preprint server for biology · 2025Article
- Adaptive functions of structural variants in human brain development.Science advances · 2024Article
- Detection of trait-associated structural variations using short-read sequencing.Cell genomics · 2023Article
- CNVpytor: a tool for copy number variation detection and analysis from read depth and allele imbalance in whole-genome sequencing.GigaScience · 2021Article
- A comprehensive analysis of gorilla-specific LINE-1 retrotransposons.Genes & genomics · 2021Article
- Origins and Long-Term Patterns of Copy-Number Variation in Rhesus Macaques.Molecular biology and evolution · 2021Article
- Current Progress in Evolutionary Comparative Genomics of Great Apes.Frontiers in genetics · 2021Review
- Characterization of nuclear mitochondrial insertions in the whole genomes of primates.NAR genomics and bioinformatics · 2020Article
- Copy number variants and fixed duplications among 198 rhesus macaques (Macaca mulatta).PLoS genetics · 2020Article
- Identification of Structural Variation in Chimpanzees Using Optical Mapping and Nanopore Sequencing.Genes · 2020Article
- Human and Nonhuman Primate Lineage-Specific Footprints in the Salivary Proteome.Molecular biology and evolution · 2020Article
- An Evolutionary Perspective on the Impact of Genomic Copy Number Variation on Human Health.Journal of molecular evolution · 2020Review
- Long-read assembly of the Chinese rhesus macaque genome and identification of ape-specific structural variants.Nature communications · 2019Article
- Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing.Genome biology · 2019Article
- Fine-Scale Characterization of Genomic Structural Variation in the Human Genome Reveals Adaptive and Biomedically Relevant Hotspots.Genome biology and evolution · 2019Article
- Complex evolution of the GSTM gene family involves sharing of GSTM1 deletion polymorphism in humans and chimpanzees.BMC genomics · 2018Article
- Archaic Hominin Introgression in Africa Contributes to Functional Salivary MUC7 Genetic Variation.Molecular biology and evolution · 2017Article
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Authors and funding
15 authors at 6 institutions in 4 countries.
Funding
Abstract
Although nucleotide resolution maps of genomic structural variants (SVs) have provided insights into the origin and impact of phenotypic diversity in humans, comparable maps in nonhuman primates have thus far been lacking. Using massively parallel DNA sequencing, we constructed fine-resolution genomic structural variation maps in five chimpanzees, five orang-utans, and five rhesus macaques. The SV maps, which are comprised of thousands of deletions, duplications, and mobile element insertions, revealed a high activity of retrotransposition in macaques compared with great apes. By comparison, nonallelic homologous recombination is specifically active in the great apes, which is correlated with architectural differences between the genomes of great apes and macaque. Transcriptome analyses across nonhuman primates and humans revealed effects of species-specific whole-gene duplication on gene expression. We identified 13 gene duplications coinciding with the species-specific gain of tissue-specific gene expression in keeping with a role of gene duplication in the promotion of diversification and the acquisition of unique functions. Differences in the present day activity of SV formation mechanisms that our study revealed may contribute to ongoing diversification and adaptation of great ape and Old World monkey lineages.
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