Title |
Impact of non-LTR retrotransposons in the differentiation and evolution of anatomically modern humans
|
---|---|
Published in |
Mobile DNA, August 2018
|
DOI | 10.1186/s13100-018-0133-4 |
Pubmed ID | |
Authors |
Etienne Guichard, Valentina Peona, Guidantonio Malagoli Tagliazucchi, Lucia Abitante, Evelyn Jagoda, Margherita Musella, Marco Ricci, Alejandro Rubio-Roldán, Stefania Sarno, Donata Luiselli, Davide Pettener, Cristian Taccioli, Luca Pagani, Jose Luis Garcia-Perez, Alessio Boattini |
Abstract |
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. 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. 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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 5 | 13% |
United States | 4 | 10% |
Canada | 3 | 8% |
Sweden | 2 | 5% |
Italy | 2 | 5% |
France | 2 | 5% |
Spain | 1 | 3% |
Finland | 1 | 3% |
Japan | 1 | 3% |
Other | 0 | 0% |
Unknown | 19 | 48% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Scientists | 24 | 60% |
Members of the public | 14 | 35% |
Science communicators (journalists, bloggers, editors) | 2 | 5% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 53 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 14 | 26% |
Researcher | 7 | 13% |
Student > Bachelor | 5 | 9% |
Student > Master | 5 | 9% |
Student > Doctoral Student | 3 | 6% |
Other | 7 | 13% |
Unknown | 12 | 23% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 19 | 36% |
Biochemistry, Genetics and Molecular Biology | 16 | 30% |
Computer Science | 2 | 4% |
Mathematics | 1 | 2% |
Pharmacology, Toxicology and Pharmaceutical Science | 1 | 2% |
Other | 2 | 4% |
Unknown | 12 | 23% |