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Transposons make up a significant part of genomes of various organisms. Therefore, it is believed that transposition played a major evolutionary role in speciation by changing genome sizes and modifying gene expression patterns. For example, in bacteria, transposition can lead to conferring antibiotic resistance. Movement of transposable elements within the genetic pool of pathogenic bacteria can aid in transfer of antibiotic-resistant genetic elements. In eukaryotes, transposons can carry out...
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As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
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LTR retrotransposons are class I transposable elements with long terminal repeats flanking an internal coding region. These elements are less abundant in mammals compared to other class I transposable elements. About 8 percent of human genomic DNA comprises LTR retrotransposons. Some of the common examples of LTR retrotransposons are Ty elements in yeast and Copia elements in Drosophila.
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DNA-only transposons are called autonomous transposons since they code for the enzyme transposase that is required for the transposition mechanism. Insertion of transposons can alter gene functions in multiple ways. They can mutate the gene, alter gene expression by introducing a novel promoter or insulator sequence, introduce new splice sites, and change the mRNA transcripts produced, or remodel chromatin structure.
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Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
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Transposons, or "jumping genes," are small mobile genetic elements (MGEs) that range from 700 to 40,000 base pairs in length. They are found in all organisms and can move within the same chromosome or transfer to different chromosomes. In some cases, transposons can also jump between different host DNA molecules, such as plasmids or viruses, contributing to genetic variability.Barbara McClintock first discovered these mobile genetic elements in the 1940s while studying maize genetics, and she...
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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
PubMed
Summary
This summary is machine-generated.

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.

Keywords:
PIWIL proteinsintrinsically disordered regionspositive selectiontransposable element control genes

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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.