Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Overview of Transposition and Recombination02:13

Overview of Transposition and Recombination

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...
DNA-only Transposons02:57

DNA-only Transposons

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...
Non-LTR Retrotransposons03:18

Non-LTR Retrotransposons

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...
Transposons01:24

Transposons

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...
LTR Retrotransposons03:08

LTR Retrotransposons

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...
piRNA - Piwi-interacting RNAs02:57

piRNA - Piwi-interacting RNAs

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...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Functional analyses identify the L1 ORF2p Cryptic domain as a hub for intramolecular interfaces required for retrotransposition.

Nucleic acids research·2026
Same author

Human endogenous retroviruses (HERVs) associated with glioblastoma risk and prognosis.

Cancer gene therapy·2025
Same author

Large Deletions, Cleavage of the Telomeric Repeat Sequence, and Reverse Transcriptase-Mediated DNA Damage Response Associated with Long Interspersed Element-1 ORF2p Enzymatic Activities.

Genes·2024
Same author

A novel role of TRIM28 B box domain in L1 retrotransposition and ORF2p-mediated cDNA synthesis.

Nucleic acids research·2023
Same author

Analysis of epigenetic features characteristic of L1 loci expressed in human cells.

Nucleic acids research·2022
Same author

Organ-, sex- and age-dependent patterns of endogenous L1 mRNA expression at a single locus resolution.

Nucleic acids research·2021

Related Experiment Video

Updated: Jun 19, 2026

RNA Next-Generation Sequencing and a Bioinformatics Pipeline to Identify Expressed LINE-1s at the Locus-Specific Level
11:04

RNA Next-Generation Sequencing and a Bioinformatics Pipeline to Identify Expressed LINE-1s at the Locus-Specific Level

Published on: May 19, 2019

LINE dancing in the human genome: transposable elements and disease.

Victoria P Belancio1, Prescott L Deininger, Astrid M Roy-Engel

  • 1Department of Structural and Cellular Biology, School of Medicine, Tulane Cancer Center and Tulane Center for Aging, Tulane University, SL-49 1430 Tulane Ave, New Orleans, LA 70112, USA. vperepe@tulane.edu.

Genome Medicine
|October 30, 2009
PubMed
Summary

Transposable elements (TEs) significantly contribute to genetic instability and human diseases. Research highlights their role in mutations, altered gene expression, and genome instability, impacting human health.

More Related Videos

Real-Time Quantification of the Effects of IS200/IS605 Family-Associated TnpB on Transposon Activity
04:04

Real-Time Quantification of the Effects of IS200/IS605 Family-Associated TnpB on Transposon Activity

Published on: January 20, 2023

Detection of Retrotransposition Activity of Hot LINE-1s by Long-Distance Inverse PCR
10:54

Detection of Retrotransposition Activity of Hot LINE-1s by Long-Distance Inverse PCR

Published on: July 27, 2019

Related Experiment Videos

Last Updated: Jun 19, 2026

RNA Next-Generation Sequencing and a Bioinformatics Pipeline to Identify Expressed LINE-1s at the Locus-Specific Level
11:04

RNA Next-Generation Sequencing and a Bioinformatics Pipeline to Identify Expressed LINE-1s at the Locus-Specific Level

Published on: May 19, 2019

Real-Time Quantification of the Effects of IS200/IS605 Family-Associated TnpB on Transposon Activity
04:04

Real-Time Quantification of the Effects of IS200/IS605 Family-Associated TnpB on Transposon Activity

Published on: January 20, 2023

Detection of Retrotransposition Activity of Hot LINE-1s by Long-Distance Inverse PCR
10:54

Detection of Retrotransposition Activity of Hot LINE-1s by Long-Distance Inverse PCR

Published on: July 27, 2019

Area of Science:

  • Genetics
  • Molecular Biology
  • Human Disease Research

Background:

  • Transposable elements (TEs) are increasingly recognized for their role in genetic instability and human diseases.
  • Active human TEs include LINE-1, Alu (SINE), and SVA non-LTR retroelements.
  • TEs contribute to disease via insertional mutations, homologous recombination, and altered gene expression.

Purpose of the Study:

  • To review recent advances in understanding the impact of active human TEs on genome stability.
  • To explore the relevance of TE activity to human disease etiology.
  • To highlight the growing association between TEs and genetic disorders.

Main Methods:

  • Review of current literature on transposable element activity.
  • Analysis of recent technological advancements in detecting TE-mediated events.
  • Focus on non-allelic homologous recombination and epigenetic modulation by TEs.

Main Results:

  • TEs cause genetic instability through insertional mutagenesis and non-allelic homologous recombination.
  • Alu elements are increasingly implicated in human diseases via recombination events.
  • The full impact of TE activity on somatic mutations and epigenetic states requires further characterization.

Conclusions:

  • Active human TEs are significant drivers of genetic instability and disease.
  • Improved detection methods are revealing a growing number of TE-associated genetic disorders.
  • Further research is crucial to fully elucidate the mechanisms and scope of TE impact on human health.