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Related Concept Videos

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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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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Master transcription regulators are regulatory proteins that are predominantly responsible for regulating the expression of multiple genes. Often these genes work in concert to drive a  complex process. Activation of a master transcription regulator can lead to a cascade of transcriptional activation necessary for that outcome. These regulators can directly bind to the regulatory sequences of the various genes involved, or they can indirectly regulate transcription by binding to regulatory...
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Overview
Gene expression is the process in which DNA directs the synthesis of functional products, that is, proteins. Cells can regulate gene expression at various stages. It allows organisms to generate different cell types and enables cells to adapt to internal and external factors.
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General Transcription Factors

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Tissue-specific transcription factors contribute to diverse cellular functions in mammals. For example, the gene for beta globin, a major component of hemoglobin, is present in all cells of the body. However, it is only expressed in red blood cells because the transcription factors that can bind to the promoter sequences of the beta globin gene are only expressed in these cells. Tissue-specific transcription factors also ensure that mutations in these factors may impair only the function of...
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Reporter genes are a type of protein-coding gene that are often tagged to a gene of interest. Once inside a target cell, reporter genes usually produce visually identifiable characteristics like fluorescence and luminescence when expressed along with the gene of interest. Thus, reporter genes “report” the presence or absence of genes of interest in an organism, determine the gene expression pattern, or track the physical location of a DNA segment or protein in the cell.
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Author Spotlight: Investigating mRNA Spatial Distribution in Drosophila Muscle Tissue
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Transposon expression and repression in skeletal muscle.

Matthew J Borok1, Louai Zaidan2, Frederic Relaix3,4,5,6

  • 1University Paris-Est Créteil, INSERM U955 IMRB, Créteil, 94010, France. matthew.borok@inserm.fr.

Mobile DNA
|April 11, 2025
PubMed
Summary

Transposons, mobile DNA elements, are active in human genomes, influencing gene expression and causing genetic disorders like muscular dystrophies. Their dysregulation is implicated in facioscapulohumeral dystrophy and aging.

Keywords:
Muscular dystrophySkeletal muscleTransposable elements

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Area of Science:

  • Genomics
  • Molecular Biology
  • Human Genetics

Background:

  • Transposons constitute a significant portion of the human genome and remain transcriptionally active.
  • Their expression can influence adjacent gene transcription and coding sequences.
  • Active transposons can integrate into new genomic locations, altering gene expression and potentially causing disease.

Purpose of the Study:

  • To review the expression of transposons in skeletal muscles.
  • To examine the transcriptional regulation of transposons by the KRAB-ZFP/KAP1/SETDB1 complex.
  • To discuss the role of transposon activity in phenotypic variation, muscular dystrophies, immune myopathies, facioscapulohumeral dystrophy, and aging.

Main Methods:

  • Literature review focusing on transposon expression and regulation.
  • Analysis of specific case studies on transposon insertion and disease.
  • Discussion of molecular mechanisms involving KRAB-ZFP/KAP1/SETDB1 complex.

Main Results:

  • Transposon expression is observed in skeletal muscles and is regulated by the KRAB-ZFP/KAP1/SETDB1 complex.
  • Transposon insertions are linked to phenotypic variation and various muscular dystrophies.
  • Transposon expression plays a role in immune myopathies.

Conclusions:

  • Dysregulation of transposons contributes to facioscapulohumeral dystrophy and the aging process.
  • Understanding transposon activity is crucial for comprehending genetic disorders and aging.
  • Further research into transposon regulation may reveal therapeutic targets.