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Positive Selection Targeted Primate Genes that Encode Transposable Element Repressors
Rachele Cagliani1, Diego Forni1, Alessandra Mozzi1
1Scientific Institute IRCCS E. MEDEA, Computational Biology Unit, Bosisio Parini 23842, Italy.
Genome Biology and Evolution
|March 5, 2026
Summary
Transposable elements (TEs) challenge genomes, driving the evolution of silencing systems. Our study reveals positive selection on TE control genes, particularly in primate and human populations, suggesting an ongoing genomic conflict.
Area of Science:
- Genomics
- Evolutionary Biology
- Molecular Biology
Background:
- Transposable elements (TEs) are mobile genetic sequences that can disrupt host genomes.
- TE mobilization presents a significant fitness challenge, leading to the evolution of sophisticated silencing mechanisms.
- The evolution of TE control systems is hypothesized to be influenced by intra-genomic conflicts.
Purpose of the Study:
- To investigate the evolutionary dynamics of TE control systems.
- To identify signatures of selection acting on genes involved in TE silencing.
- To explore the role of genomic conflict in shaping TE control mechanisms.
Main Methods:
- Evolutionary analysis of TE control genes across different timescales.
- Identification of positively selected sites in TE control proteins, focusing on intrinsically disordered regions (IDRs).
- Analysis of genetic data from 54 human populations to detect signals of positive selection.
Main Results:
- A significant proportion of TE control genes showed evidence of positive selection during primate evolution.
- Proteins in the piRNA pathway exhibited numerous positively selected sites, particularly within IDRs.
- Analysis of human populations identified TEX15, GTSF1, and GTSF1L as selection targets, along with NuRD complex components.
Conclusions:
- Signatures of positive selection on TE control genes are consistent with a genomic conflict between TEs and their repressors.
- Selection appears to modulate the properties of intrinsically disordered regions in TE control proteins.
- Additional evolutionary pressures may also contribute to the observed selection patterns in primate and human populations.
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