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Functional and Structural Consequences of Damaging Single Nucleotide Polymorphisms in Human Prostate Cancer

Amit Datta1, Md Habibul Hasan Mazumder1, Afrin Sultana Chowdhury1

  • 1Department of Genetic Engineering and Biotechnology, Faculty of Biological Sciences, University of Chittagong, Chittagong 4331, Bangladesh.

Biomed Research International
|August 4, 2015
PubMed

Insights

This study identifies three damaging single nucleotide polymorphisms (SNPs) in the RNASEL gene, offering new insights into the genetic basis of prostate cancer (PrCa). These findings are crucial for understanding PrCa development and potential future diagnostics.

Area of Science:

  • Genetics
  • Oncology
  • Bioinformatics

Background:

  • Prostate cancer (PrCa) is a common malignancy.
  • The RNASEL gene, encoding ribonuclease L, plays a role in the interferon system and is implicated in PrCa development through mutations.
  • Single Nucleotide Polymorphisms (SNPs) in RNASEL are potential contributors to PrCa risk.

Purpose of the Study:

  • To computationally identify functional and deleterious SNPs in the RNASEL gene.
  • To assess the structural and functional impact of these RNASEL mutations on ribonuclease L.
  • To pinpoint specific RNASEL SNPs most likely to contribute to prostate cancer.

Main Methods:

  • Utilized multiple bioinformatics tools (SIFT, PolyPhen, SNPs&GO, Fathmm, ConSurf, UTRScan, PDBsum, Tm-Align, I-Mutant, Project HOPE, Expasy-ProSit) for SNP analysis.
  • Analyzed 794 RNASEL SNPs, focusing on 124 nonsynonymous SNPs (nsSNPs).
  • Generated 3D protein models to evaluate mutation effects on ribonuclease L structure and function.

Main Results:

  • Identified nine nsSNPs as potentially deleterious.
  • Predicted significant structural and functional instability for mutated ribonuclease L proteins.
  • Pinpointed three highly damaging nsSNPs: rs151296858 (G59S), rs145415894 (A276V), and rs35896902 (R592H) located in functional domains.

Conclusions:

  • This study provides a comprehensive analysis of RNASEL SNPs, identifying key variants associated with prostate cancer risk.
  • The identified damaging SNPs offer potential biomarkers for PrCa.
  • These findings contribute valuable genetic insights for future research and clinical applications in male prostate cancer.

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