The human genome is composed of almost 98% of noncoding DNA, much of which gives rise to functional noncoding RNAs (ncRNAs). A significant but often overlooked source of ncRNAs is transposable elements (TEs)—mobile genetic sequences capable of integrating into various genomic regions. TEs contribute extensively to the ncRNA landscape, yet their transcriptional activity is often entangled with that of host genes, complicating functional interpretation. They have been shown to be co-opted by cells for various functions, such as cryptic cis-regulatory sequences, and for generating transcripts (TE transcripts) that could impact cellular functions and disease processes. In contexts like stemness, cancer, and immunity, TEs are crucial in maintaining cell identity through transcriptional regulation. However, TE-derived ncRNAs remain insufficiently characterized, partly due to reliance on outdated genomic tools and databases. This chapter addresses this gap by providing a comprehensive overview of TE-derived ncRNAs based on the most current genomic resources. We first examine how TEs, or portions of them, are incorporated into annotated ncRNA transcripts based on the most recent human genome reference, highlighting recent technological advances that enhance this analysis. The discussion then narrows to specific examples of TE insertions within two prominent ncRNA classes: microRNAs (miRNAs) and long noncoding RNAs (lncRNAs). Finally, we explore emerging evidence linking TE-containing ncRNAs to various disease contexts, offering insights into their potential biological and clinical relevance.

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Transposable Element-Derived Noncoding RNAs

  • Francesco Panariello,
  • Alen Stambolliu,
  • Michele Panepuccia,
  • Filippo Vittorio Burattin,
  • Beatrice Bodega

摘要

The human genome is composed of almost 98% of noncoding DNA, much of which gives rise to functional noncoding RNAs (ncRNAs). A significant but often overlooked source of ncRNAs is transposable elements (TEs)—mobile genetic sequences capable of integrating into various genomic regions. TEs contribute extensively to the ncRNA landscape, yet their transcriptional activity is often entangled with that of host genes, complicating functional interpretation. They have been shown to be co-opted by cells for various functions, such as cryptic cis-regulatory sequences, and for generating transcripts (TE transcripts) that could impact cellular functions and disease processes. In contexts like stemness, cancer, and immunity, TEs are crucial in maintaining cell identity through transcriptional regulation. However, TE-derived ncRNAs remain insufficiently characterized, partly due to reliance on outdated genomic tools and databases. This chapter addresses this gap by providing a comprehensive overview of TE-derived ncRNAs based on the most current genomic resources. We first examine how TEs, or portions of them, are incorporated into annotated ncRNA transcripts based on the most recent human genome reference, highlighting recent technological advances that enhance this analysis. The discussion then narrows to specific examples of TE insertions within two prominent ncRNA classes: microRNAs (miRNAs) and long noncoding RNAs (lncRNAs). Finally, we explore emerging evidence linking TE-containing ncRNAs to various disease contexts, offering insights into their potential biological and clinical relevance.