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Impact of non-LTR retrotransposons in the differentiation and evolution of anatomically modern humans

Guichard, E; Peona, V; Tagliazucchi, GM; Abitante, L; Jagoda, E; Musella, M; Ricci, M; ... Boattini, A; + view all (2018) Impact of non-LTR retrotransposons in the differentiation and evolution of anatomically modern humans. Mobile DNA , 9 , Article 28. 10.1186/s13100-018-0133-4. Green open access

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Abstract

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.

Type: Article
Title: Impact of non-LTR retrotransposons in the differentiation and evolution of anatomically modern humans
Open access status: An open access version is available from UCL Discovery
DOI: 10.1186/s13100-018-0133-4
Publisher version: https://doi.org/10.1186/s13100-018-0133-4
Language: English
Additional information: © The Author(s). 2018 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License http://creative commons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/ 1.0/) applies to the data made available in this article, unless otherwise stated.
Keywords: Non-LTR retrotranspososons, Human evolution, Ancient genomes, Chimpanzees, Generation of variability, Functional analyses
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences > Genetics, Evolution and Environment
URI: https://discovery.ucl.ac.uk/id/eprint/10076620
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