A novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon‐Lefevre syndrome
Abstract Objectives In this study, we analyzed the whole exomes of CTSC gene in a family with history of PLS. Materials and methods Genomic DNA was extracted from peripheral blood and genotype analysis was performed. The mutated protein sequence was used to find the best possible tertiary structure...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2021-08-01
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| Series: | Clinical and Experimental Dental Research |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/cre2.387 |
| _version_ | 1818881216890273792 |
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| author | Mahmoud Ghanei Mohammad R. Abbaszadegan Mohammad M. Forghanifard Azadeh Aarabi Hamidreza Arab |
| author_facet | Mahmoud Ghanei Mohammad R. Abbaszadegan Mohammad M. Forghanifard Azadeh Aarabi Hamidreza Arab |
| author_sort | Mahmoud Ghanei |
| collection | DOAJ |
| description | Abstract Objectives In this study, we analyzed the whole exomes of CTSC gene in a family with history of PLS. Materials and methods Genomic DNA was extracted from peripheral blood and genotype analysis was performed. The mutated protein sequence was used to find the best possible tertiary structure for homology modeling. The homology modeling of the novel mutation was then performed using the online Swiss‐Prot server. The results were also analyzed for to verify its validity. Results The analysis of CTSC gene elucidated a novel insertion GAC. The novel mutation was proved by analyzing 50 healthy control volunteers. Modeling of the novel found mutation in CTSC gene revealed structural defects that may have caused the functional abnormalities. Conclusions The structural analysis of the mutated protein model identifies changes in the stereo‐chemical and the energy level of the mutated protein. Since this protein play a role in the activation of granule serine proteases from cytotoxic T lymphocytes, natural killer cells, mast cells, such structural defects may lead to its malfunction causing dysfunctioning of immune defense mechanisms. |
| first_indexed | 2024-12-19T14:58:21Z |
| format | Article |
| id | doaj.art-3d34c828a6bd4d09855c802102cd00d6 |
| institution | Directory Open Access Journal |
| issn | 2057-4347 |
| language | English |
| last_indexed | 2024-12-19T14:58:21Z |
| publishDate | 2021-08-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical and Experimental Dental Research |
| spelling | doaj.art-3d34c828a6bd4d09855c802102cd00d62022-12-21T20:16:38ZengWileyClinical and Experimental Dental Research2057-43472021-08-017456857310.1002/cre2.387A novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon‐Lefevre syndromeMahmoud Ghanei0Mohammad R. Abbaszadegan1Mohammad M. Forghanifard2Azadeh Aarabi3Hamidreza Arab4Medical Genetics and Molecular Medicine Department Medical school, Mashhad University of Medical Sciences Mashhad IranMedical Genetics and Molecular Medicine Department Medical school, Mashhad University of Medical Sciences Mashhad IranDepartment of Biology, Damghan Branch Islamic Azad University Damghan IranHuman Genetics Division Immunology Research Center, Avicenna Research Institute, Mashhad University of Medical Sciences Mashhad IranDental Research Center, School of Dentistry Mashhad University of Medical Sciences Mashhad IranAbstract Objectives In this study, we analyzed the whole exomes of CTSC gene in a family with history of PLS. Materials and methods Genomic DNA was extracted from peripheral blood and genotype analysis was performed. The mutated protein sequence was used to find the best possible tertiary structure for homology modeling. The homology modeling of the novel mutation was then performed using the online Swiss‐Prot server. The results were also analyzed for to verify its validity. Results The analysis of CTSC gene elucidated a novel insertion GAC. The novel mutation was proved by analyzing 50 healthy control volunteers. Modeling of the novel found mutation in CTSC gene revealed structural defects that may have caused the functional abnormalities. Conclusions The structural analysis of the mutated protein model identifies changes in the stereo‐chemical and the energy level of the mutated protein. Since this protein play a role in the activation of granule serine proteases from cytotoxic T lymphocytes, natural killer cells, mast cells, such structural defects may lead to its malfunction causing dysfunctioning of immune defense mechanisms.https://doi.org/10.1002/cre2.387cathepsin C mutationenergy minimizationLefevre syndromepalmoplantar hyperkeratosisPapillontertiary structure |
| spellingShingle | Mahmoud Ghanei Mohammad R. Abbaszadegan Mohammad M. Forghanifard Azadeh Aarabi Hamidreza Arab A novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon‐Lefevre syndrome Clinical and Experimental Dental Research cathepsin C mutation energy minimization Lefevre syndrome palmoplantar hyperkeratosis Papillon tertiary structure |
| title | A novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon‐Lefevre syndrome |
| title_full | A novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon‐Lefevre syndrome |
| title_fullStr | A novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon‐Lefevre syndrome |
| title_full_unstemmed | A novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon‐Lefevre syndrome |
| title_short | A novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon‐Lefevre syndrome |
| title_sort | novel mutation in the cathepsin c ctsc gene in iranian family with papillon lefevre syndrome |
| topic | cathepsin C mutation energy minimization Lefevre syndrome palmoplantar hyperkeratosis Papillon tertiary structure |
| url | https://doi.org/10.1002/cre2.387 |
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