In Silico Study to Predict the Structural and Functional Consequences of SNPs on Biomarkers of Ovarian Cancer (OC) and BPA Exposure-Associated OC
Background: Recently, we have shown that seven genes, namely <i>GBP5</i>, <i>IRS2</i>, <i>KRT4</i>, <i>LINCOO707</i>, <i>MRPL55</i>, <i>RRS1</i> and <i>SLC4A11,</i> have prognostic power for the overall survival in o...
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MDPI AG
2022-02-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/23/3/1725 |
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| author | Aeman Zahra Marcia Hall Jayanta Chatterjee Cristina Sisu Emmanouil Karteris |
| author_facet | Aeman Zahra Marcia Hall Jayanta Chatterjee Cristina Sisu Emmanouil Karteris |
| author_sort | Aeman Zahra |
| collection | DOAJ |
| description | Background: Recently, we have shown that seven genes, namely <i>GBP5</i>, <i>IRS2</i>, <i>KRT4</i>, <i>LINCOO707</i>, <i>MRPL55</i>, <i>RRS1</i> and <i>SLC4A11,</i> have prognostic power for the overall survival in ovarian cancer (OC). Methods: We present an analysis on the association of these genes with any phenotypes and mutations indicative of involvement in female cancers and predict the structural and functional consequences of those SNPS using in silico tools. Results: These seven genes present with 976 SNPs/mutations that are associated with human cancers, out of which 284 related to female cancers. We have then analysed the mutation impact on amino acid polarity, charge and water affinity, leading to the identification of 30 mutations in gynaecological cancers where amino acid (aa) changes lead to opposite polarity, charges and water affinity. Out of these 30 mutations identified, only a missense mutation (i.e., R831C/R804C in uterine corpus endometrial carcinomas, UCEC) was suggestive of structural damage on the <i>SLC4A11</i> protein. Conclusions: We demonstrate that the R831C/R804C mutation is deleterious and the predicted ΔΔG values suggest that the mutation reduces the stability of the protein. Future in vitro studies should provide further insight into the role of this transporter protein in UCEC. |
| first_indexed | 2024-03-09T23:45:04Z |
| format | Article |
| id | doaj.art-b3e8acd3539a45bd99fd5aaeb3725a52 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-09T23:45:04Z |
| publishDate | 2022-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-b3e8acd3539a45bd99fd5aaeb3725a522023-11-23T16:45:34ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672022-02-01233172510.3390/ijms23031725In Silico Study to Predict the Structural and Functional Consequences of SNPs on Biomarkers of Ovarian Cancer (OC) and BPA Exposure-Associated OCAeman Zahra0Marcia Hall1Jayanta Chatterjee2Cristina Sisu3Emmanouil Karteris4Biosciences, College of Health, Medicine and Life Sciences, Brunel University London, Uxbridge UB8 3PH, UKBiosciences, College of Health, Medicine and Life Sciences, Brunel University London, Uxbridge UB8 3PH, UKBiosciences, College of Health, Medicine and Life Sciences, Brunel University London, Uxbridge UB8 3PH, UKBiosciences, College of Health, Medicine and Life Sciences, Brunel University London, Uxbridge UB8 3PH, UKBiosciences, College of Health, Medicine and Life Sciences, Brunel University London, Uxbridge UB8 3PH, UKBackground: Recently, we have shown that seven genes, namely <i>GBP5</i>, <i>IRS2</i>, <i>KRT4</i>, <i>LINCOO707</i>, <i>MRPL55</i>, <i>RRS1</i> and <i>SLC4A11,</i> have prognostic power for the overall survival in ovarian cancer (OC). Methods: We present an analysis on the association of these genes with any phenotypes and mutations indicative of involvement in female cancers and predict the structural and functional consequences of those SNPS using in silico tools. Results: These seven genes present with 976 SNPs/mutations that are associated with human cancers, out of which 284 related to female cancers. We have then analysed the mutation impact on amino acid polarity, charge and water affinity, leading to the identification of 30 mutations in gynaecological cancers where amino acid (aa) changes lead to opposite polarity, charges and water affinity. Out of these 30 mutations identified, only a missense mutation (i.e., R831C/R804C in uterine corpus endometrial carcinomas, UCEC) was suggestive of structural damage on the <i>SLC4A11</i> protein. Conclusions: We demonstrate that the R831C/R804C mutation is deleterious and the predicted ΔΔG values suggest that the mutation reduces the stability of the protein. Future in vitro studies should provide further insight into the role of this transporter protein in UCEC.https://www.mdpi.com/1422-0067/23/3/1725missense mutationsprotein modelling<i>SLC4A11</i>uterine corpus endometrial carcinoma |
| spellingShingle | Aeman Zahra Marcia Hall Jayanta Chatterjee Cristina Sisu Emmanouil Karteris In Silico Study to Predict the Structural and Functional Consequences of SNPs on Biomarkers of Ovarian Cancer (OC) and BPA Exposure-Associated OC International Journal of Molecular Sciences missense mutations protein modelling <i>SLC4A11</i> uterine corpus endometrial carcinoma |
| title | In Silico Study to Predict the Structural and Functional Consequences of SNPs on Biomarkers of Ovarian Cancer (OC) and BPA Exposure-Associated OC |
| title_full | In Silico Study to Predict the Structural and Functional Consequences of SNPs on Biomarkers of Ovarian Cancer (OC) and BPA Exposure-Associated OC |
| title_fullStr | In Silico Study to Predict the Structural and Functional Consequences of SNPs on Biomarkers of Ovarian Cancer (OC) and BPA Exposure-Associated OC |
| title_full_unstemmed | In Silico Study to Predict the Structural and Functional Consequences of SNPs on Biomarkers of Ovarian Cancer (OC) and BPA Exposure-Associated OC |
| title_short | In Silico Study to Predict the Structural and Functional Consequences of SNPs on Biomarkers of Ovarian Cancer (OC) and BPA Exposure-Associated OC |
| title_sort | in silico study to predict the structural and functional consequences of snps on biomarkers of ovarian cancer oc and bpa exposure associated oc |
| topic | missense mutations protein modelling <i>SLC4A11</i> uterine corpus endometrial carcinoma |
| url | https://www.mdpi.com/1422-0067/23/3/1725 |
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