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Related Concept Videos

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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Updated: Jul 31, 2025

Transposon Mediated Integration of Plasmid DNA into the Subventricular Zone of Neonatal Mice to Generate Novel Models of Glioblastoma
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A transposase-derived gene required for human brain development.

Luz Jubierre Zapater1,2, Sara A Lewis3, Rodrigo Lopez Gutierrez4

  • 1Molecular Pharmacology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, 10021.

Biorxiv : the Preprint Server for Biology
|May 10, 2023
PubMed
Summary
This summary is machine-generated.

PiggyBac Transposable Element Derived 5 (PGBD5) is crucial for normal mammalian brain development. Its deficiency in mice and humans leads to intellectual disability, movement disorders, and seizures due to impaired neuronal differentiation and genome stability.

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Area of Science:

  • Genetics
  • Neuroscience
  • Developmental Biology

Background:

  • DNA transposable elements and transposase-derived genes are widespread in vertebrates, but their precise functions remain largely unelucidated.
  • PiggyBac Transposable Element Derived 5 (PGBD5) is an evolutionarily conserved gene in vertebrates, retaining nuclease activity in human cells.
  • Vertebrate brain development involves significant neuronal cell death and DNA breaks, with unclear causes and functions.

Purpose of the Study:

  • To investigate the role of PGBD5 in mammalian brain development.
  • To determine the consequences of PGBD5 deficiency on neurological function and genome integrity.

Main Methods:

  • Utilized mouse models and human cell studies to examine PGBD5 function.
  • Analyzed DNA break induction, somatic genome rearrangements, neuronal differentiation, and gene expression in Pgbd5-deficient subjects.

Main Results:

  • PGBD5 is essential for normal brain development in mice and humans, with deficiency causing intellectual disability, movement disorders, and seizures.
  • In mice, Pgbd5 is required for inducing post-mitotic DNA breaks and somatic genome rearrangements during development.
  • Loss of PGBD5 in the mouse brain cortex results in aberrant differentiation and altered gene expression in specific neuronal populations, including glutamatergic neurons.

Conclusions:

  • PGBD5 plays a vital role in mammalian brain development by regulating DNA breaks and genome stability.
  • The findings explain the neurological and developmental features observed in PGBD5 deficiency.
  • PGBD5 represents a transposase-derived enzyme critical for mammalian brain development.