ArticlePLoS genetics2013
Gene copy-number polymorphism caused by retrotransposition in humans.
Article in PLoS genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 64 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
64 citing papers in PubMed, 105 citations in OpenAlex.
- Retrotransposed gene copies persist under relaxed selection in wild Spodoptera frugiperda.Molecular biology and evolution · 2026Article
- Characterization of retrocopies in 663 individuals with esophageal squamous cell carcinoma.iScience · 2026Article
- From Genomic Fossils to Functional Elements: The Evolving Story of Pseudogenes.Advanced genetics (Hoboken, N.J.) · 2025Review
- Is the extreme within-population genome size variation real in Spodoptera frugiperda?PloS one · 2025Article
- RCPedia: a global resource for studying and exploring retrocopies in diverse species.Bioinformatics (Oxford, England) · 2024Article
- Genetic diversity of United States Rambouillet, Katahdin and Dorper sheep.Genetics, selection, evolution : GSE · 2024Article
- The roles of gene duplications in the dynamics of evolutionary conflicts.Proceedings. Biological sciences · 2024Review
- Contribution ofmedRxiv : the preprint server for health sciences · 2024Article
- Interchromosomal Colocalization with Parental Genes Is Linked to the Function and Evolution of Mammalian Retrocopies.Molecular biology and evolution · 2023Article
- Ancient segmentally duplicated LCORL retrocopies in equids.PloS one · 2023Article
- Discovery of non-reference processed pseudogenes in the Swedish population.Frontiers in genetics · 2023Article
- Recent, full-length gene retrocopies are common in canids.Genome research · 2022Article
- Review
- Similarity-Based Analysis of Allele Frequency Distribution among Multiple Populations Identifies Adaptive Genomic Structural Variants.Molecular biology and evolution · 2022Article
- Tracing the Origin and Evolutionary Fate of Recent Gene Retrocopies in Natural Populations of the House Mouse.Molecular biology and evolution · 2022Article
- PΨFinder: a practical tool for the identification and visualization of novel pseudogenes in DNA sequencing data.BMC bioinformatics · 2022Article
- Recent advances and current challenges in population genomics of structural variation in animals and plants.Frontiers in genetics · 2022Review
- Evolution of genetic networks for human creativity.Molecular psychiatry · 2022Review
- Higher Rates of Processed Pseudogene Acquisition in Humans and Three Great Apes Revealed by Long-Read Assemblies.Molecular biology and evolution · 2021Article
- The mutational load in natural populations is significantly affected by high primary rates of retroposition.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
4 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
The era of whole-genome sequencing has revealed that gene copy-number changes caused by duplication and deletion events have important evolutionary, functional, and phenotypic consequences. Recent studies have therefore focused on revealing the extent of variation in copy-number within natural populations of humans and other species. These studies have found a large number of copy-number variants (CNVs) in humans, many of which have been shown to have clinical or evolutionary importance. For the most part, these studies have failed to detect an important class of gene copy-number polymorphism: gene duplications caused by retrotransposition, which result in a new intron-less copy of the parental gene being inserted into a random location in the genome. Here we describe a computational approach leveraging next-generation sequence data to detect gene copy-number variants caused by retrotransposition (retroCNVs), and we report the first genome-wide analysis of these variants in humans. We find that retroCNVs account for a substantial fraction of gene copy-number differences between any two individuals. Moreover, we show that these variants may often result in expressed chimeric transcripts, underscoring their potential for the evolution of novel gene functions. By locating the insertion sites of these duplicates, we are able to show that retroCNVs have had an important role in recent human adaptation, and we also uncover evidence that positive selection may currently be driving multiple retroCNVs toward fixation. Together these findings imply that retroCNVs are an especially important class of polymorphism, and that future studies of copy-number variation should search for these variants in order to illuminate their potential evolutionary and functional relevance.
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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.