Title:Detection of Damaging nsSNPs on Human Caspase-Cascades Related to Apoptotic Signalling Pathway
Volume: 20
Issue: 9
Author(s): Jinny Tomar, V. K. Gera and Chiranjib Chakraborty
Affiliation:
Keywords:
Cancer, apoptotic signalling, caspase-cascades, computational approach, nonsynonymous single nucleotide polymorphisms
(nsSNPs).
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.