ReviewCold Spring Harbor symposia on quantitative biology2009
The evolution of human segmental duplications and the core duplicon hypothesis.
Review in Cold Spring Harbor symposia on quantitative biology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 88 citations in OpenAlex.
- Segmentally Duplicated Regulatory Elements Undergo Human-Specific Rewiring.Molecular biology and evolution · 2026Article
- Genetic diversity and regulatory features of human-specific NOTCH2NL duplications.Cell genomics · 2026Article
- Article
- Complete sequencing of ape genomes.Nature · 2025Article
- Independent expansion, selection, and hypervariability of theGenome research · 2024Article
- Complete sequencing of ape genomes.bioRxiv : the preprint server for biology · 2024Article
- Complex genetic variation in nearly complete human genomes.bioRxiv : the preprint server for biology · 2024Article
- Impact and characterization of serial structural variations across humans and great apes.Nature communications · 2024Article
- Independent expansion, selection and hypervariability of thebioRxiv : the preprint server for biology · 2024Article
- Dyads of GGC and GCC form hotspot colonies that coincide with the evolution of human and other great apes.BMC genomic data · 2024Article
- Neurogenesis in primates versus rodents and the value of non-human primate models.National science review · 2023Review
- Chromosomal inversion polymorphisms shape human brain morphology.Cell reports · 2023Article
- Genomic structural variation: A complex but important driver of human evolution.American journal of biological anthropology · 2023Review
- Evolution of genetic mechanisms regulating cortical neurogenesis.Developmental neurobiology · 2022Review
- SVA Retrotransposons and a Low Copy Repeat in Humans and Great Apes: A Mobile Connection.Molecular biology and evolution · 2022Article
- Segmental duplications and their variation in a complete human genome.Science (New York, N.Y.) · 2022Article
- Modelling segmental duplications in the human genome.BMC genomics · 2021Article
- Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders.BMC medical genomics · 2021Article
- The influence of evolutionary history on human health and disease.Nature reviews. Genetics · 2021Review
- Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution.Genome research · 2020Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Duplicated sequences are important sources of genetic instability and in the evolution of new gene function within species. Hominids have a preponderance of intrachromosomal duplications organized in an interspersed fashion, as opposed to tandem duplications, which are common in other mammalian genomes such as mouse, dog, and cow. Multiple lines of evidence, including sequence divergence, comparative primate genomes, and fluorescence in situ hybridization (FISH) analyses, point to an excess of segmental duplications in the common ancestor of humans and African great apes. We find that much of the interspersed human duplication architecture within chromosomes is focused around common sequence elements referred to as "core duplicons." These cores correspond to the expansion of gene families, some of which show signatures of positive selection and lack orthologs present in other mammalian species. This genomic architecture predisposes apes and humans not only to extensive genetic diversity, but also to large-scale structural diversity mediated by nonallelic homologous recombination. In humans, many de novo large-scale genomic changes mediated by these duplications are associated with neuropsychiatric and neurodevelopmental disease. We propose that the disadvantage of a high rate of new mutations is offset by the selective advantage of newly minted genes within the cores.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.