ArticleMolecular biology and evolution2013
"Orphan" retrogenes in the human genome.
Article in Molecular biology and evolution, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 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
37 citing papers in PubMed.
- The marsupial imprinted gene MLH1 has retrocopies in three marsupial families.Epigenetics & chromatin · 2026Article
- Gene retroposition and functional diversification of retrocopies in the Rhus gall aphid Schlechtendalia chinensis.BMC genomics · 2026Article
- Single-cell analysis of the amphioxus hepatic caecum and vertebrate liver reveals genetic mechanisms of vertebrate liver evolution.Nature ecology & evolution · 2024Article
- Evolution of retrocopies in the context of HUSH silencing.Biology direct · 2024Article
- Four classic "de novo" genes all have plausible homologs and likely evolved from retro-duplicated or pseudogenic sequences.Molecular genetics and genomics : MGG · 2024Article
- Discovery of non-reference processed pseudogenes in the Swedish population.Frontiers in genetics · 2023Article
- Review
- Recurrent evolution of an inhibitor of ESCRT-dependent virus budding and LINE-1 retrotransposition in primates.Current biology : CB · 2022Article
- Article
- Article
- The Structural, Functional and Evolutionary Impact of Transposable Elements in Eukaryotes.Genes · 2021Review
- Not So Dead Genes-Retrocopies as Regulators of Their Disease-Related Progenitors and Hosts.Cells · 2021Review
- 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
- Cancer, Retrogenes, and Evolution.Life (Basel, Switzerland) · 2021Review
- Interpopulation differences of retroduplication variations (RDVs) in rice retrogenes and their phenotypic correlations.Computational and structural biotechnology journal · 2021Article
- Complex Analysis of Retroposed Genes' Contribution to Human Genome, Proteome and Transcriptome.Genes · 2020Article
- An Evolutionary Perspective on the Impact of Genomic Copy Number Variation on Human Health.Journal of molecular evolution · 2020Review
- Novel Y Chromosome Retrocopies in Canids Revealed through a Genome-Wide Association Study for Sex.Genes · 2019Article
- Genes Relocated Between Drosophila Chromosome Arms Evolve Under Relaxed Selective Constraints Relative to Non-Relocated Genes.Journal of molecular evolution · 2018Article
- Amphioxus SYCP1: a case of retrogene replacement and co-option of regulatory elements adjacent to the ParaHox cluster.Development genes and evolution · 2018Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gene duplicates generated via retroposition were long thought to be pseudogenized and consequently decayed. However, a significant number of these genes escaped their evolutionary destiny and evolved into functional genes. Despite multiple studies, the number of functional retrogenes in human and other genomes remains unclear. We performed a comparative analysis of human, chicken, and worm genomes to identify "orphan" retrogenes, that is, retrogenes that have replaced their progenitors. We located 25 such candidates in the human genome. All of these genes were previously known, and the majority has been intensively studied. Despite this, they have never been recognized as retrogenes. Analysis revealed that the phenomenon of replacing parental genes with their retrocopies has been taking place over the entire span of animal evolution. This process was often species specific and contributed to interspecies differences. Surprisingly, these retrogenes, which should evolve in a more relaxed mode, are subject to a very strong purifying selection, which is, on average, two and a half times stronger than other human genes. Also, for retrogenes, they do not show a typical overall tendency for a testis-specific expression. Notably, seven of them are associated with human diseases. Recognizing them as "orphan" retrocopies, which have different regulatory machinery than their parents, is important for any disease studies in model organisms, especially when discoveries made in one species are transferred to humans.
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