1. Impact of non-LTR retrotransposons in the differentiation and evolution of Anatomically Modern Humans
- Author
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Jose L. Garcia-Perez, Margherita Musella, Valentina Peona, Luca Pagani, Alejandro Rubio-Roldan, Stefania Sarno, Etienne Guichard, Lucia Abitante, Guidantonio Malagoli Tagliazucchi, Cristian Taccioli, Alessio Boattini, Davide Pettener, Evelyn Jagoda, Donata Luiselli, Marco Ricci, Guichard, Etienne, Peona, Valentina, Malagoli Tagliazucchi, Guidantonio, Abitante, Lucia, Jagoda, Evelyn, Musella, Margherita, Ricci, Marco, Rubio-Roldán, Alejandro, Sarno, Stefania, Luiselli, Donata, Pettener, Davide, Taccioli, Cristian, Pagani, Luca, Garcia-Perez, Jose Lui, and Boattini, Alessio
- Subjects
0301 basic medicine ,Genome evolution ,Chimpanzee ,Ancient genomes ,Lineage (genetic) ,lcsh:QH426-470 ,PROMOTER ,L1 RETROTRANSPOSITION ,CARCINOMA-CELLS ,Retrotransposon ,Biology ,Non-LTR retrotranspososon ,SEQUENCE ,Genome ,03 medical and health sciences ,0302 clinical medicine ,Generation of variability ,Genetics ,Non-LTR retrotranspososons ,Functional analyse ,Genetik ,Chimpanzees ,Molecular Biology ,Gene ,Human evolution ,030304 developmental biology ,GENOME EVOLUTION ,0303 health sciences ,Research ,Functional analyses ,HUMAN BRAIN ,Phenotype ,Ancient genome ,SOMATIC RETROTRANSPOSITION ,lcsh:Genetics ,030104 developmental biology ,Evolutionary biology ,TRANSPOSABLE ELEMENTS ,Neuron maturation ,Human genome ,EMBRYONIC STEM-CELLS ,030217 neurology & neurosurgery ,REGULATORY NETWORKS - 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. Electronic supplementary material The online version of this article (10.1186/s13100-018-0133-4) contains supplementary material, which is available to authorized users.
- Published
- 2017
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