RT Journal Article
T1 Impact of non-LTR retrotransposons in the differentiation and evolution of anatomically modern humans.
A1 Guichard, Etienne
A1 Peona, Valentina
A1 Malagoli Tagliazucchi, Guidantonio
A1 Abitante, Lucia
A1 Jagoda, Evelyn
A1 Musella, Margherita
A1 Ricci, Marco
A1 Rubio-Roldán, Alejandro
A1 Sarno, Stefania
A1 Luiselli, Donata
A1 Pettener, Davide
A1 Taccioli, Cristian
A1 Pagani, Luca
A1 Garcia-Perez, Jose Luis
A1 Boattini, Alessio
K1 Ancient genomes
K1 Chimpanzees
K1 Functional analyses
K1 Generation of variability
K1 Human evolution
K1 Non-LTR retrotranspososons
AB 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.
SN 1759-8753
YR 2018
FD 2018-08-15
LK http://hdl.handle.net/10668/12874
UL http://hdl.handle.net/10668/12874
LA en
DS RISalud
RD Apr 9, 2025