In silico characterization of structural and functional impact of the deleterious SNPs on FSHR gene

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dc.contributor.authorJanani, Dakshina Moorthyen_US
dc.contributor.authorPoornima, Gopalakrishnanen_US
dc.contributor.authorUsha, Balasundaramen_US
dc.date.accessioned2020-01-02T06:23:24Z
dc.date.available2020-01-02T06:23:24Z
dc.date.issued2019-12
dc.description.abstractFSHR is an important gene which plays a major role in the development of secondary sex characteristics and influences the female reproductive cycle by regulating the Follicle Stimulating Hormone. Though this gene and its protein are extensively studied, no attempts have been made yet to methodically analyze the variants in this gene. One of the chief objectives during the analysis of human genetic variation is to distinguish between the Single Nucleotide Polymorphisms (SNPs) that are functionally neutral from those that contribute to the disorder. To predict the possible impact of SNPs on the FSHR structure and function, data were obtained from NCBI (dbSNP and dbVar) and validated manually. Various bioinformatics tools were used to predict the alterations at transcriptional, post transcriptional stages and protein interaction. Around 38 variants reported by NCBI Variation Viewer were sorted by SIFT and 14 of them were reported damaging, 13 were reported to be either benign or damaging by PROVEAN and Panther. From these 13 SNPs, the most damaging (11 SNPs) were modeled using Pymol and the energy difference between the native and mutated structure was calculated by Swiss PDB – Viewer. Based on our analysis, we have reported potential candidate SNPs for the FSHR gene involved in the regulation of ovarian pathophysiology.en_US
dc.identifier.affiliationsDepartment of Genetic Engineering, School of Bioengineering, SRM Institute of Science and Technology, Kattankulathur- 603 203, Tamil Nadu, Indiaen_US
dc.identifier.citationJanani Dakshina Moorthy, Poornima Gopalakrishnan, Usha Balasundaram. In silico characterization of structural and functional impact of the deleterious SNPs on FSHR gene. Indian Journal of Biochemistry and Biophysics. 2019 Dec; 56(6): 492-499en_US
dc.identifier.issn0975-0959
dc.identifier.issn0301-1208
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/190082
dc.languageenen_US
dc.publisherNISCAIR-CSIR, Indiaen_US
dc.relation.issuenumber6en_US
dc.relation.volume56en_US
dc.source.urihttps://nopr.niscair.res.in/handle/123456789/52165en_US
dc.titleIn silico characterization of structural and functional impact of the deleterious SNPs on FSHR geneen_US
dc.typeJournal Articleen_US
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