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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, 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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Human population-specific gene expression and transcriptional network modification with polymorphic transposable

Lu Wang1, Lavanya Rishishwar1,2,3,4, Leonardo Mariño-Ramírez3,5

  • 1School of Biology, Georgia Institute of Technology, Atlanta, GA 30332, USA.

Nucleic Acids Research
|December 22, 2016
PubMed
Summary
This summary is machine-generated.

Recent transposable element (TE) activity creates genetic variations that influence human gene regulation. These polymorphic TE (polyTE) loci act as expression quantitative trait loci (eQTL), impacting gene expression across diverse populations.

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Area of Science:

  • Genomics
  • Human Genetics
  • Molecular Biology

Background:

  • Transposable elements (TEs) contribute to human genome regulation, primarily through ancient insertions.
  • The regulatory impact of recent TE activity and resulting genetic variation remains underexplored.

Purpose of the Study:

  • To investigate associations between polymorphic TE (polyTE) loci and human gene expression levels.
  • To explore the role of recent TE insertions in regulatory polymorphisms across human populations.

Main Methods:

  • Utilized an expression quantitative trait loci (eQTL) approach.
  • Compared locus-specific polyTE insertion genotypes with B cell gene expression data from 445 individuals across 5 populations.

Main Results:

  • Identified numerous polyTE loci acting as cis and trans eQTLs with cell type-specific immune functions.
  • Observed polyTE-associated expression differences between European and African populations.
  • Found a single polyTE locus indirectly regulating multiple genes via the transcription factor PAX5.

Conclusions:

  • Human TE genetic variation significantly impacts gene expression and can lead to phenotypic consequences.
  • TE-derived eQTLs play a role in population-specific gene regulation and transcriptional network modifications.