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Published on: February 16, 2015
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.
Abstract:
In tumorigenesis, cancer genetics and the related mutations have been the main topic of study these days. Caspases have been found to be actively involved in the process of apoptosis. Malfunction of apoptosis is one of the causes for cancerous tumors and different caspase mutations are related to that process. It has been found that two groups of caspases involved in this process apoptosis which are initiator caspases and executioner caspases. SNPs have been extensively studied over the last decade, due to their association with a number of genetic diseases. Human SNPs have always been a source of information related to the complex changes associated with their origin. SNPs which can change the resulting amino acid i.e., nonsynonymous SNPs (nsSNPs) are of prime concern these days because of their direct relation with the disease or the respective individual. In this study our focus is not only to detect the nsSNPs available in the human caspase data but to further evaluate the potentially damaging nsSNPs. Using the computational approach we have been able to obtain almost seventy eight nsSNPs, among these few of the nsSNPs seem to have serious consequences, as they have been cross verified from a variety of SNP prediction tools. The functional as well as structural impact of the nsSNPs is determined and discussed. Our predicted nsSNPs on human caspases may be associated with cancer risk.
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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