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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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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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Epigenetic Regulation01:37

Epigenetic Regulation

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Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
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Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

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Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
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Cancer-Critical Genes I: Proto-oncogenes01:33

Cancer-Critical Genes I: Proto-oncogenes

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Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
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Real-Time Quantification of the Effects of IS200/IS605 Family-Associated TnpB on Transposon Activity
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Regulation and function of transposable elements in cancer genomes.

Michael Lee1, Syed Farhan Ahmad2, Jian Xu3

  • 1Department of Pediatrics, Children's Medical Center Research Institute, University of Texas Southwestern Medical Center, 6000 Harry Hines Blvd., Dallas, TX, 75390, USA. MichaelJr.Lee@UTSouthwestern.edu.

Cellular and Molecular Life Sciences : CMLS
|March 31, 2024
PubMed
Summary

Transposable elements (TEs), once ignored, are key to human genome evolution and function. New research explores their role in cancer and potential therapeutic applications, alongside technical challenges and solutions.

Keywords:
ERVsLINE-1Long-read sequencingNon-coding genomeRetrotransposonsSINEViral mimicry

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Area of Science:

  • Genomics
  • Molecular Biology
  • Cancer Research

Background:

  • Over 50% of human DNA consists of transposable elements (TEs), mobile genetic sequences shaped by evolution.
  • TEs, previously termed "junk DNA," are now recognized as crucial components influencing genome structure and function.
  • Recent technological advancements provide new insights into TE activity in human health and disease.

Purpose of the Study:

  • To review the role of TEs in shaping the human regulatory landscape.
  • To discuss the implication of TE activity in human cancers.
  • To explore novel therapeutic strategies leveraging TE activity for cancer treatment.

Main Methods:

  • Review of current literature on TE function and impact on genome evolution.
  • Discussion of technical challenges in studying repetitive DNA, including structural variation, expression, and chromatin regulation.
  • Cataloging of existing and emerging assays and bioinformatics tools for TE analysis.

Main Results:

  • TEs significantly influence the regulatory architecture of the human genome.
  • TE activity is demonstrably linked to the development and progression of human cancers.
  • Methodological advancements are crucial for overcoming challenges in studying TEs.

Conclusions:

  • TEs are integral to genome evolution and human biology, particularly in cancer.
  • Understanding TE mechanisms offers potential for innovative cancer therapies.
  • Comprehensive analysis of TEs requires sophisticated methodologies and tools.