ArticleNature genetics2020
Recurrent inversion toggling and great ape genome evolution.
Article in Nature genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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Who cites it
47 citing papers in PubMed.
- Rapid centromere turnover and the adaptive radiation of lemurs.bioRxiv : the preprint server for biology · 2026Article
- Complete telomere-to-telomere genomes of cowpea reveal insights into centromere evolution in Phaseoleae.Horticulture research · 2026Article
- Evolutionary instability drives structural diversity and disease susceptibility at the 16p12.2 locus.bioRxiv : the preprint server for biology · 2026Article
- Beyond inversions and deletions: the evolutionary and functional insights from translocations, fissions, and fusions in animal genomes.Heredity · 2026Review
- Molecular Phylogeny of "Chemosensory Proteins" in Bacteria and Arthropods: CSP as an Extremely Ancient Gene.Journal of molecular evolution · 2026Article
- Article
- Genomic signatures of subterranean lifestyle and ecological adaptation in Myospalax.BMC biology · 2025Article
- Genome Architecture and Speciation in Plants and Animals.Molecular ecology · 2025Review
- Complete genome assemblies of two mouse subspecies reveal structural diversity of telomeres and centromeres.Nature genetics · 2025Article
- Structural variant landscape provides insights into genome organisation and domestication in European seabass.BMC biology · 2025Article
- A Chromosome Inversion Creates a Supergene for Sex and Colour in Lake Malawi Cichlids.Molecular ecology · 2025Article
- Genome-wide diversity of chromosomal inversions and their disease relationships.bioRxiv : the preprint server for biology · 2025Article
- Epigenetic and evolutionary features of ape subterminal heterochromatin.bioRxiv : the preprint server for biology · 2025Article
- Complete sequencing of ape genomes.Nature · 2025Article
- Incomplete recombination suppression fuels extensive haplotype diversity in a butterfly colour pattern supergene.PLoS biology · 2025Article
- The Evolutionary Potential of Chromoanagenesis.Methods in molecular biology (Clifton, N.J.) · 2025Article
- Sequence-Based Machine Learning Reveals 3D Genome Differences between Bonobos and Chimpanzees.Genome biology and evolution · 2024Article
- Article
- Complete sequencing of ape genomes.bioRxiv : the preprint server for biology · 2024Article
- Deciphering the role of structural variation in human evolution: a functional perspective.Current opinion in genetics & development · 2024Review
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Authors and funding
17 authors.
Funding
Abstract
Inversions play an important role in disease and evolution but are difficult to characterize because their breakpoints map to large repeats. We increased by sixfold the number (n = 1,069) of previously reported great ape inversions by using single-cell DNA template strand and long-read sequencing. We find that the X chromosome is most enriched (2.5-fold) for inversions, on the basis of its size and duplication content. There is an excess of differentially expressed primate genes near the breakpoints of large (>100 kilobases (kb)) inversions but not smaller events. We show that when great ape lineage-specific duplications emerge, they preferentially (approximately 75%) occur in an inverted orientation compared to that at their ancestral locus. We construct megabase-pair scale haplotypes for individual chromosomes and identify 23 genomic regions that have recurrently toggled between a direct and an inverted state over 15 million years. The direct orientation is most frequently the derived state for human polymorphisms that predispose to recurrent copy number variants associated with neurodevelopmental disease.
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