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Related Experiment Video

Updated: Sep 7, 2025

Derivation and Characterization of a Transgene-free Human Induced Pluripotent Stem Cell Line and Conversion into Defined Clinical-grade Conditions
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Transposable Elements in Pluripotent Stem Cells and Human Disease.

Gang Ma1, Isaac A Babarinde1, Xuemeng Zhou1

  • 1Shenzhen Key Laboratory of Gene Regulation and Systems Biology, Department of Biology, School of Life Sciences, Southern University of Science and Technology, Shenzhen, China.

Frontiers in Genetics
|June 20, 2022
PubMed
Summary

Transposable elements (TEs) are mobile genetic sequences in the human genome. This review contrasts their beneficial roles in pluripotent cells with their harmful effects in human diseases.

Keywords:
endogenous retrovirus (ERV)long terminal repeat (LTR)non-coding RNA (ncRNAs)pluripotent stem cell (PSC)transposable element (TE)

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Area of Science:

  • Genomics
  • Molecular Biology
  • Epigenetics

Background:

  • Transposable elements (TEs) constitute approximately 40% of the human genome.
  • TEs exhibit a complex dual role, acting as both potentially deleterious and advantageous to the host cell.
  • While few TEs retain transposition capability, their remnants influence gene regulation and genome structure.

Purpose of the Study:

  • To compare and contrast the contrasting roles of transposable elements in different biological contexts.
  • To elucidate the dual nature of TEs in both normal cellular function and human disease states.

Main Methods:

  • Literature review and synthesis of existing research on transposable elements.
  • Comparative analysis of TE activity in pluripotent states versus disease states.
  • Discussion of technical challenges in analyzing TE functions.

Main Results:

  • TEs are viewed as mechanistically useful or broadly beneficial in the pluripotent state.
  • In human diseases, TEs are predominantly considered harmful.
  • The functional impact of TEs is often difficult to ascertain due to analytical complexities.

Conclusions:

  • TEs present a dichotomy: beneficial in pluripotency, detrimental in disease.
  • Understanding this duality is crucial for comprehending genome dynamics and disease pathogenesis.
  • Further research is needed to overcome technical hurdles in TE analysis.