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Unraveling the Concealed Transcriptomic Landscape of PTEN in Human Malignancies

Michaela A Boti1, Panagiotis G Adamopoulos1, Dido Vassilacopoulou1

  • 1Department of Biochemistry and Molecular Biology, Faculty of Biology, National and Kapodistrian University of Athens, Athens, Greece.

Current Genomics
|January 3, 2024
PubMed
Abstract

Insights

Researchers discovered novel PTEN mRNA transcripts using targeted sequencing, revealing new insights into PTEN regulation and its role in cell cycle dysregulation and cancer development.

Area of Science:

  • Molecular Biology
  • Genomics
  • Cancer Research

Background:

  • Phosphatase and tensin homolog (PTEN) is a critical negative regulator of the PI3K/AKT/mTOR pathway.
  • This pathway is vital for cellular processes like proliferation, growth, survival, and metabolism.
  • PTEN's role in cancer is established, but its transcriptional profile remains understudied.

Purpose of the Study:

  • To investigate the poorly understood transcriptional profile of PTEN.
  • To identify novel PTEN mRNA transcripts and their expression patterns.
  • To explore the implications of PTEN variants in cancer biology.

Main Methods:

  • Developed a multiplexed PTEN-targeted sequencing approach.
  • Combined both short-read and long-read sequencing technologies.
  • Analyzed PTEN transcript expression in various human cancer and non-cancer cell lines.

Main Results:

  • Identified a broad spectrum of previously unknown PTEN mRNA transcripts.
  • Assessed the expression patterns of these novel transcripts.
  • Linked PTEN involvement to cell cycle dysregulation and tumor development.

Conclusions:

  • Novel PTEN splice variants were identified.
  • These findings enhance understanding of PTEN regulation and function.
  • Opens new avenues for monitoring PTEN-related diseases, including cancer.
Keywords:
Phosphatase and tensin homologalternative splicingcytogeneticlong-read sequencingsplice variantstumor suppression

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