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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

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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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Comparing Copy Number Variations and SNPs02:26

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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Updated: Jul 21, 2025

Real-Time Quantification of the Effects of IS200/IS605 Family-Associated TnpB on Transposon Activity
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Transposable element insertions in 1000 Swedish individuals.

Kristine Bilgrav Saether1,2, Daniel Nilsson1,2,3, Håkan Thonberg1,3

  • 1Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.

Plos One
|July 28, 2023
PubMed
Summary
This summary is machine-generated.

Transposable elements (TEs) are key to understanding rare genetic diseases. Characterizing TE insertions improves rare disease diagnosis by identifying previously unknown pathogenic variants in patients.

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Area of Science:

  • Genomics
  • Human Genetics
  • Molecular Biology

Background:

  • Most rare diseases have a genetic origin, yet 60% of patients remain undiagnosed despite advanced genomic sequencing.
  • A significant knowledge gap exists regarding the function and distribution of transposable elements (TEs), which comprise 50% of the human genome.
  • Understanding TEs is crucial for improving the diagnostic yield of rare disease investigations.

Purpose of the Study:

  • To characterize transposable element insertions in diverse populations.
  • To establish population-specific TE insertion databases.
  • To enhance the diagnostic utility of clinical genome sequencing for rare diseases by incorporating TE analysis.

Main Methods:

  • Characterization of TE insertions in 1000 Swedish individuals (SweGen) and 2504 individuals (1000 Genomes Project).
  • Creation of seven population-specific TE insertion databases.
  • Development and application of a TE insertion identification workflow for clinical cases.

Main Results:

  • TE insertions were found to be largely conserved across populations, with 66% of SweGen insertions present in the 1000 Genomes Project database.
  • Rare TE insertions were identified, with approximately 0.7% affecting protein-coding genes, and less than 0.1% impacting known disease-causing genes.
  • The TE insertion identification workflow successfully verified pathogenic TE insertions in two clinical rare disease cases.

Conclusions:

  • Transposable element insertion detection is vital for advancing rare disease diagnostics.
  • The developed TE insertion databases and workflows can significantly increase the diagnostic yield in clinical genome sequencing.
  • This study highlights the clinical implications of TEs in diagnosing rare genetic disorders.