Mutations in microRNA binding sites of CEP genes involved in cancer

Chandrasekhar Gopalakrishnan1, Balu Kamaraj, Rituraj Purohit

  • 1Bioinformatics Division, School of Bio Sciences and Technology (SBST), Vellore Institute of Technology University, Vellore, 632014, Tamil Nadu, India.

Insights

Single nucleotide polymorphisms (SNPs) in CEP genes can disrupt cell replication and potentially cause cancer by altering miRNA binding sites. This study identifies 44 high-confidence SNPs impacting miRNA regulation in CEP genes, offering insights into centrosome-associated diseases.

Area of Science:

  • Genetics and Molecular Biology
  • Cell Biology
  • Bioinformatics

Background:

  • CEP genes are crucial for cell replication, centrosome function, and centriole biogenesis.
  • Dysregulation of CEP genes is linked to cell cycle disruption and cancer development.
  • MicroRNAs (miRNAs) regulate gene expression by binding to 3' untranslated regions (UTRs) of messenger RNA (mRNA).

Purpose of the Study:

  • To identify single nucleotide polymorphisms (SNPs) in CEP genes that may affect miRNA binding sites.
  • To explore the functional consequences of these SNPs on gene expression and cellular processes.
  • To prioritize CEP gene SNPs as potential targets for centrosome-associated human diseases.

Main Methods:

  • Development of a computational pipeline integrating data from public databases.
  • Application of stringent selection criteria to identify high-confidence SNPs in miRNA binding sites within CEP gene 3'UTRs.
  • Performance of expression, enrichment, and network analyses to understand SNP impact.

Main Results:

  • Identification of 16 CEP genes targeted by miRNAs.
  • Discovery of 44 high-confidence SNPs potentially impairing miRNA:mRNA interactions in the 3'UTR of these genes.
  • Expression and network analyses revealed potential tissue-specific effects and disrupted cellular functions.

Conclusions:

  • The identified SNPs in CEP genes represent potential drivers of centrosome-associated diseases.
  • This research provides a foundation for further investigation into CEP gene regulation and its role in human disease.
  • The findings offer valuable insights for wet lab researchers studying gene expression and miRNA-mediated translation inhibition.

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