Detection of damaging nsSNPs on human caspase-cascades related to apoptotic signalling pathway

Jinny Tomar1, V K Gera, Chiranjib Chakraborty

  • 1Biotechnology Department, College of Engineering and Technology, IILM Academy of Higher Learning, Knowledge Park, Greater Noida, U.P, India.

Insights

This study identified 78 nonsynonymous single nucleotide polymorphisms (nsSNPs) in human caspases. A subset of these nsSNPs may significantly impact protein function and potentially increase cancer risk.

Area of Science:

  • Genetics
  • Molecular Biology
  • Bioinformatics

Background:

  • Cancer genetics and mutations are key research areas.
  • Caspases are crucial for apoptosis; their malfunction contributes to cancer.
  • Single nucleotide polymorphisms (SNPs), especially nonsynonymous SNPs (nsSNPs), are linked to genetic diseases.

Purpose of the Study:

  • To detect nsSNPs in human caspase data.
  • To evaluate potentially damaging nsSNPs within human caspases.
  • To analyze the functional and structural impact of these nsSNPs.

Main Methods:

  • Computational approaches were employed.
  • Identification of nsSNPs in human caspase sequences.
  • Utilized multiple SNP prediction tools for validation.

Main Results:

  • Identified seventy-eight nsSNPs in human caspases.
  • Several nsSNPs were predicted to have serious functional and structural consequences.
  • Cross-verification from various SNP prediction tools confirmed potentially damaging nsSNPs.

Conclusions:

  • The identified nsSNPs in human caspases may be associated with cancer risk.
  • Computational analysis provides insights into nsSNP impact on caspase function.
  • Further investigation is warranted to confirm the role of these nsSNPs in tumorigenesis.

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