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Related Concept Videos

Overview of Transposition and Recombination02:13

Overview of Transposition and Recombination

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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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Non-LTR Retrotransposons03:18

Non-LTR Retrotransposons

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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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Transposons01:24

Transposons

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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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DNA-only Transposons02:57

DNA-only Transposons

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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.
The donor site from where the transposon is excised is either degraded or...
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LTR Retrotransposons03:08

LTR Retrotransposons

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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.
The internal coding region of LTR retrotransposons and their mechanism of transposition closely resembles a...
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piRNA - Piwi-interacting RNAs02:57

piRNA - Piwi-interacting RNAs

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PIWI-interacting RNAs, or piRNAs, are the most abundant short non-coding RNAs. More than 20,000 genes have been found in humans that code for piRNAs while only 2000 genes have been found for miRNAs. piRNAs can act at the transcriptional and post-transcriptional levels and have a vital role in silencing transposable elements present in germ cells. They are also involved in epigenetic silencing and activation. Previously, they were thought to function only in germ cells but new evidence suggests...
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Related Experiment Video

Updated: Dec 30, 2025

Real-Time Quantification of the Effects of IS200/IS605 Family-Associated TnpB on Transposon Activity
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Our Conflict with Transposable Elements and Its Implications for Human Disease.

Kathleen H Burns1

  • 1Department of Pathology, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA;

Annual Review of Pathology
|January 25, 2020
PubMed
Summary

Mobile genetic elements, or transposons, are active in humans, sometimes causing disease. Understanding their role in pathology could offer new insights into conditions like cancer and neurodegeneration.

Keywords:
AluLINE-1SVAendogenous retrovirusinterferonretrotransposon

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RNA Next-Generation Sequencing and a Bioinformatics Pipeline to Identify Expressed LINE-1s at the Locus-Specific Level
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Analysis of LINE-1 Retrotransposition at the Single Nucleus Level
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Area of Science:

  • Genetics
  • Molecular Biology
  • Human Pathology

Background:

  • The human genome contains mobile genetic elements (transposons) that have shaped its evolution.
  • Eukaryotes possess defense mechanisms against transposon propagation, but these are not fully effective.
  • Certain transposon families remain active in modern humans, posing potential risks.

Purpose of the Study:

  • To review the intrinsic functions of transposons.
  • To outline the mechanisms for controlling transposon activity.
  • To explore the connection between transposons and human diseases.

Main Methods:

  • Review of existing literature on transposon biology and pathology.
  • Analysis of disease mechanisms linked to transposable element expression.
  • Discussion of the challenges in differentiating epiphenomenal from pathogenic effects.

Main Results:

  • Transposons can cause monogenic diseases through germline insertions that disrupt genes.
  • Aberrant transposable element expression is linked to complex diseases including cancer, autoimmunity, and neurodegeneration.
  • The precise pathogenic role of transposons in many diseases is still under investigation.

Conclusions:

  • Transposons are a significant factor in human health and disease.
  • Further research is needed to elucidate the pathogenic mechanisms of transposons.
  • Distinguishing causal from incidental roles of transposons may revolutionize disease understanding.