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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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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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Alzheimer's Disease (AD) is a continually advancing neurodegenerative disorder, distinguished by escalating memory loss, cognitive dysfunction, and dementia. The disease unfolds in three stages: preclinical, mild cognitive impairment (MCI), and dementia. Its onset is insidious, and the progression gradual, with the cause not well explained by other disorders.
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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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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...
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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.
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Single-Cell Transcriptome Patterns of Transposable Elements in Alzheimer's Disease.

Cali M McEntee1,2, Thomas J LaRocca3,4

  • 1Department of Health and Exercise Science, Colorado State University, Fort Collins, CO, USA.

Molecular Neurobiology
|June 19, 2025
PubMed
Summary
This summary is machine-generated.

Transposable element (TE) transcripts are elevated in Alzheimer's disease (AD) brains across most cell types. Retrotransposons show the greatest increase in excitatory neurons, indicating altered TE activity in AD pathogenesis.

Keywords:
Alzheimer’s diseaseNeuronsRetrotransposonsTransposable elementssnATAC-seqsnRNA-seq

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Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Transposable elements (TEs) are increasingly implicated in Alzheimer's disease (AD) pathogenesis.
  • Previous single-cell/nucleus RNA sequencing (sc/snRNA-seq) studies in AD have not detailed cell type-specific TE transcript patterns.

Purpose of the Study:

  • To investigate cell type-specific patterns of transposable element (TE) transcripts in the Alzheimer's disease (AD) brain.
  • To analyze TE transcript expression and accessibility in prefrontal cortex samples from AD patients.

Main Methods:

  • Analysis of TE and gene expression in 143,951 cells from snRNA-seq datasets of AD prefrontal cortex.
  • Examination of TE loci transcriptional accessibility.
  • Validation using complementary bulk RNA-sequencing data from AD samples.

Main Results:

  • TE transcripts were broadly increased in most brain cell types in AD.
  • Retrotransposon transcripts showed the most significant increase in excitatory neurons in AD.
  • TE loci exhibited increased transcriptional accessibility in AD, particularly in neurons and excitatory neurons.

Conclusions:

  • TE transcript dynamics vary across different cell types in the AD brain.
  • Increased TE transcription, especially retrotransposons in neurons, offers novel insights into AD pathogenesis.
  • Findings highlight the role of TEs in AD pathology and suggest potential therapeutic targets.