Identification of a novel mutation in the mechanoreceptor-encoding gene CXCR1 in patients with keloid
| Autor: | Mian Wang, Xiaoyan Zhao, Liangqi Cai, Xiaoping Ke, Yi-jin Huang, Qi-guo Zhang |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Male China Cicatrix Hypertrophic Mutation Missense Dermatology Gene mutation Biology medicine.disease_cause Mechanoreceptor Receptors Interleukin-8A Pathogenesis 030207 dermatology & venereal diseases 03 medical and health sciences symbols.namesake 0302 clinical medicine Keloid medicine Humans Genetic Testing RNA Messenger skin and connective tissue diseases Gene Retrospective Studies Skin Sanger sequencing Mutation Original Paper CXCR1 General Medicine medicine.disease Gene screening Immunohistochemistry Up-Regulation 030104 developmental biology Real-time polymerase chain reaction symbols Cancer research Female Mechanoreceptors |
| Zdroj: | Archives of Dermatological Research |
| ISSN: | 1432-069X 0340-3696 |
| Popis: | Keloids are skin fibroproliferative tumors characterized by locally invasive growth of fibroblasts and excessive collagen deposition. The objective of this study is to investigate the molecular basis of the keloid scar by studying the mutation of related genes. We performed gene screening of mechanoreceptors by quantitative polymerase chain reaction (qPCR), Sanger sequencing to detect the CXCR1gene mutation, and immuno-histochemistry to determine CXCR1 protein expression. Among the genes encoding mechanoreceptors, the expression of CXCR1 mRNA was significantly higher in keloid scar tissues than in the surrounding tissues of normal controls (P A (p.Gly192Glu). Immunohistochemistry showed heightened protein expression of CXCR1 in keloid scars as compared to controls. Our findings indicate that CXCR1 gene mutation and altered protein expression are associated with keloid scar development. Identification of the CXCR1 gene mutation might provide insights into the molecular mechanism underlying keloid scar and underscores the potential importance of mechanoreceptors in keloid scar pathogenesis. Electronic supplementary material The online version of this article (10.1007/s00403-018-1847-3) contains supplementary material, which is available to authorized users. |
| Databáze: | OpenAIRE |
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