Abstract
Objective: The primary aim of this investigation is to comprehensively examine the detrimental effects of non-synonymous single nucleotide polymorphisms (nsSNPs) on the WISP3 gene. This objective will be accomplished through intricate evaluations encompassing protein stability prediction, amino acid conservation analysis, investigation of protein-protein interactions (PPI), scrutiny of post-translational modifications (PTM), and the utilization of bioinformatics tools to forecast the potential association between nsSNPs and various diseases. By implementing these sophisticated methodologies, we aim to unveil the intricate mechanisms by which harmful nsSNPs influence the functionality and pathological implications of the WISP3 gene.
Methods: Retrieved rsIDs of SNPs from the dbSNP database and filtered using 5 in silico programs. Selected nsSNPs were subjected to further analysis i.e., protein stability and conservation analysis, solvent accessibility analysis, PPI and PTM analysis, prediction and evaluation of both native and mutant protein, and identification of cancer association and gene expression analysis.
Results: The study found that seven (C122Y, C145Y, C52Y, C78R, C75G, N233K, and R245I) of the nsSNPs are potentially vulnerable due to their higher conservancy and ability to reduce protein stability. Two (D271N and Q56H) of the nsSNPs from the initial screening were found to be associated with colon adenocarcinoma.
Conclusion: The study's findings could help researchers design experiments to validate the predictions and develop potential treatments for diseases associated with the WISP3 gene.
Publisher
Innovare Academic Sciences Pvt Ltd
Reference39 articles.
1. Kutz WE, Gong Y, Warman ML. WISP3, the gene responsible for the human skeletal disease progressive pseudo rheumatoid dysplasia, is not essential for skeletal function in mice. Mol Cell Biol. 2005;25(1):414-21. doi: 10.1128/MCB.25.1.414-421.2005, PMID 15601861.
2. Yu Y, Hu M, Xing X, Li F, Song Y, Luo Y. Identification of a mutation in the WISP3 gene in three unrelated families with progressive pseudo rheumatoid dysplasia. Mol Med Rep. 2015;12(1):419-25. doi: 10.3892/mmr.2015.3430, PMID 25738435.
3. Sailani MR, Chappell J, Jingga I, Narasimha A, Zia A, Lynch JL. WISP3 mutation associated with pseudo rheumatoid dysplasia. Cold Spring Harb Mol Case Stud. 2018;4(1):a001990. doi: 10.1101/mcs.a001990. PMID 29092958.
4. Mansuri MF, Sindhu MA, Hameed M, Javed MN, Laique K, Ullah SS. Progressive pseudo rheumatoid skeletal dysplasia presenting with proportionate short stature and positive WISP3 mutation: a case report. PJR. 2022;32(1).
5. Lu Y, Wang X, Sun X, Feng W, Guo H, Tang C. WISP3 is highly expressed in a subset of colorectal carcinomas with a better prognosis. Onco Targets Ther. 2016;9:287-93. doi: 10.2147/OTT.S97025. PMID 26834488.
Cited by
1 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献