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Impact of non-LTR r...
Impact of non-LTR retrotransposons in the differentiation and evolution of anatomically modern humans
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- Guichard, Etienne (author)
- Univ Bologna, Dept Biol Geol & Environm Sci, I-40126 Bologna, Italy
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- Peona, Valentina (author)
- Uppsala universitet,Evolutionsbiologi,Univ Bologna, Dept Biol Geol & Environm Sci, I-40126 Bologna, Italy
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- Tagliazucchi, Guidantonio Malagoli (author)
- Azienda Osped Univ Parma, Dept Res & Innovat, I-43126 Parma, Italy
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- Abitante, Lucia (author)
- Univ Bologna, Dept Biol Geol & Environm Sci, I-40126 Bologna, Italy
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- Jagoda, Evelyn (author)
- Harvard Univ, Human Evolutionary Biol, Cambridge, MA 02138 USA
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- Musella, Margherita (author)
- Univ Bologna, Dept Biol Geol & Environm Sci, I-40126 Bologna, Italy
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- Ricci, Marco (author)
- Univ Bologna, Dept Biol Geol & Environm Sci, I-40126 Bologna, Italy
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- Rubio-Roldan, Alejandro (author)
- Univ Granada, Junta Andalucia Ctr Genom & Oncol Res, PTS Granada, GENYO,Pfizer, Granada 18007, Spain
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- Sarno, Stefania (author)
- Univ Bologna, Dept Biol Geol & Environm Sci, I-40126 Bologna, Italy
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- Luiselli, Donata (author)
- Univ Bologna, Dept Cultural Heritage, Ravenna Campus, I-48121 Ravenna, Italy
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- Pettener, Davide (author)
- Univ Bologna, Dept Biol Geol & Environm Sci, I-40126 Bologna, Italy
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- Taccioli, Cristian (author)
- Univ Padua, Dept Anim Med Prod & Hlth, I-35020 Legnaro, Pd, Italy
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- Pagani, Luca (author)
- Univ Padua, Dept Biol, I-35131 Padua, Italy;Univ Tartu, Inst Genom, Estonian Bioctr, EE-51010 Tartu, Estonia
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- Luis Garcia-Perez, Jose (author)
- Univ Granada, Junta Andalucia Ctr Genom & Oncol Res, PTS Granada, GENYO,Pfizer, Granada 18007, Spain;Univ Edinburgh, Western Gen Hosp, IGMM, MRC Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland
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- Boattini, Alessio (author)
- Univ Bologna, Dept Biol Geol & Environm Sci, I-40126 Bologna, Italy
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(creator_code:org_t)
- 2018-08-15
- 2018
- English.
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In: Mobile DNA. - : BMC. - 1759-8753. ; 9
- Related links:
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https://uu.diva-port... (primary) (Raw object)
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https://mobilednajou...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
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- Background: Transposable elements are biologically important components of eukaryote genomes. In particular, non-LTR retrotransposons (N-LTRrs) played a key role in shaping the human genome throughout evolution. In this study, we compared retrotransposon insertions differentially present in the genomes of Anatomically Modern Humans, Neanderthals, Denisovans and Chimpanzees, in order to assess the possible impact of retrotransposition in the differentiation of the human lineage. Results: We first identified species-specific N-LTRrs and established their distribution in present day human populations. These analyses shortlisted a group of N-LTRr insertions that were found exclusively in Anatomically Modern Humans. These insertions are associated with an increase in the number of transcriptional/splicing variants of those genes they inserted in. The analysis of the functionality of genes containing human-specific N-LTRr insertions reflects changes that occurred during human evolution. In particular, the expression of genes containing the most recent N-LTRr insertions is enriched in the brain, especially in undifferentiated neurons, and these genes associate in networks related to neuron maturation and migration. Additionally, we identified candidate N-LTRr insertions that have likely produced new functional variants exclusive to modern humans, whose genomic loci show traces of positive selection. Conclusions: Our results strongly suggest that N-LTRr impacted our differentiation as a species, most likely inducing an increase in neural complexity, and have been a constant source of genomic variability all throughout the evolution of the human lineage.
Subject headings
- NATURVETENSKAP -- Biologi -- Genetik (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Genetics (hsv//eng)
Keyword
- Non-LTR retrotranspososons
- Human evolution
- Ancient genomes
- Chimpanzees
- Generation of variability
- Functional analyses
Publication and Content Type
- ref (subject category)
- art (subject category)
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Guichard, Etienn ...
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Peona, Valentina
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Tagliazucchi, Gu ...
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Abitante, Lucia
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Jagoda, Evelyn
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Musella, Margher ...
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show more...
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Ricci, Marco
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Rubio-Roldan, Al ...
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Sarno, Stefania
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Luiselli, Donata
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Pettener, Davide
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Taccioli, Cristi ...
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Pagani, Luca
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Luis Garcia-Pere ...
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Boattini, Alessi ...
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- About the subject
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- NATURAL SCIENCES
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NATURAL SCIENCES
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and Biological Scien ...
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and Genetics
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Mobile DNA
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Uppsala University