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Copy number loss or silencing of apoptosis-effector genes in cancer

James A Mauro1, Shanitra N Butler1, Michael Ramsamooj1

  • 1Department of Molecular Medicine, Morsani College of Medicine, University of South Florida, Tampa, FL, USA.

Gene
|October 14, 2014
PubMed

Insights

Cancer cells frequently lose apoptosis-effector genes, impacting cell death regulation. When not lost, these genes often have silenced chromatin, hindering their function in cancer development.

Area of Science:

  • Genomics
  • Cancer Biology
  • Molecular Oncology

Background:

  • Cancer cells exhibit DNA copy number variations (CNVs), including gains and losses.
  • CNVs can alter gene dosage, affecting cancer cell functions.
  • The impact of CNVs on effector genes, particularly in apoptosis and proliferation, is less understood than their impact on regulatory genes.

Purpose of the Study:

  • To investigate which genes are affected by CNVs in cancer.
  • To understand how CNVs in effector genes influence cancer cell functions.
  • To explore the role of transcription factor binding site (TFBS) copies in effector genes in regulating cell fate.

Main Methods:

  • Data-mining analyses of cancer genomic data.
  • Comparative analysis of CNVs in apoptosis-effector versus proliferation-effector genes.
  • Assessment of chromatin structures in apoptosis-effector genes.

Main Results:

  • Apoptosis-effector genes are commonly lost in cancer development compared to proliferation-effector genes.
  • When apoptosis-effector genes are not lost, they often exhibit silenced chromatin structures.
  • These findings suggest a mechanism by which cancer cells evade apoptosis.

Conclusions:

  • CNVs play a significant role in altering the balance between proliferation and apoptosis in cancer.
  • Loss or silencing of apoptosis-effector genes is a common event in cancer development.
  • Targeting these CNVs or restoring apoptosis-effector gene function could be potential therapeutic strategies.
Keywords:
Apoptosis-effector genesCOSMICCopy number variationENCODEGene dosageTCGA

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