ArticlePLoS genetics2007
Population bottlenecks as a potential major shaping force of human genome architecture.
Article in PLoS genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed.
- Article
- svaRetro and svaNUMT: modular packages for annotating retrotransposed transcripts and nuclear integration of mitochondrial DNA in genome sequencing data.GigaByte (Hong Kong, China) · 2022Article
- Characterization of nuclear mitochondrial insertions in the whole genomes of primates.NAR genomics and bioinformatics · 2020Article
- Natural variation and evolutionary dynamics of transposable elements inHorticulture research · 2020Article
- Exploring the causes of small effective population sizes in cyst nematodes using artificial Globodera pallida populations.Proceedings. Biological sciences · 2019Article
- Evolutionary dynamics of transposable elements during silkworm domestication.Genes & genomics · 2018Article
- Numtogenesis as a mechanism for development of cancer.Seminars in cancer biology · 2017Review
- NumtS colonization in mammalian genomes.Scientific reports · 2017Article
- Extreme genomic erosion after recurrent demographic bottlenecks in the highly endangered Iberian lynx.Genome biology · 2016Article
- Article
- Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells.Genome research · 2015Article
- The genomic landscape of polymorphic human nuclear mitochondrial insertions.Nucleic acids research · 2014Article
- Transposable element dynamics among asymbiotic and ectomycorrhizal Amanita fungi.Genome biology and evolution · 2014Article
- The evolution of ultraconserved elements with different phylogenetic origins.BMC evolutionary biology · 2012Article
- Mammalian NUMT insertion is non-random.Nucleic acids research · 2012Article
- Factors affecting the relative abundance of nuclear copies of mitochondrial DNA (numts) in hominoids.Journal of molecular evolution · 2012Article
- Polymorphic NumtS trace human population relationships.Human genetics · 2012Article
- Next-generation sequencing of human mitochondrial reference genomes uncovers high heteroplasmy frequency.PLoS computational biology · 2012Article
- The reference human nuclear mitochondrial sequences compilation validated and implemented on the UCSC genome browser.BMC genomics · 2011Article
- Resetting the evolution of marine reptiles at the Triassic-Jurassic boundary.Proceedings of the National Academy of Sciences of the United States of America · 2011Article
Corrections and comments
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The modern synthetic view of human evolution proposes that the fixation of novel mutations is driven by the balance among selective advantage, selective disadvantage, and genetic drift. When considering the global architecture of the human genome, the same model can be applied to understanding the rapid acquisition and proliferation of exogenous DNA. To explore the evolutionary forces that might have morphed human genome architecture, we investigated the origin, composition, and functional potential of numts (nuclear mitochondrial pseudogenes), partial copies of the mitochondrial genome found abundantly in chromosomal DNA. Our data indicate that these elements are unlikely to be advantageous, since they possess no gross positional, transcriptional, or translational features that might indicate beneficial functionality subsequent to integration. Using sequence analysis and fossil dating, we also show a probable burst of integration of numts in the primate lineage that centers on the prosimian-anthropoid split, mimics closely the temporal distribution of Alu and processed pseudogene acquisition, and coincides with the major climatic change at the Paleocene-Eocene boundary. We therefore propose a model according to which the gross architecture and repeat distribution of the human genome can be largely accounted for by a population bottleneck early in the anthropoid lineage and subsequent effectively neutral fixation of repetitive DNA, rather than positive selection or unusual insertion pressures.
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