A Novel MGST2 Non-Synonymous Mutation in a Chinese Pedigree with Psoriasis Vulgaris
| Autor: | Wei Huang, Guo-Long Zhang, Zhen-Min Niu, Xuejun Zhang, Sen Yang, Feng-Li Xiao, Jian Wang, Liangdan Sun, Xing Fan, Shi-Jie Xu, Jianjun Chen, Kai-Lin Yan, Andreas Tzschach, Qing Xia, Hans-Hilger Ropers, Kai-Yue Zhang, Jianjun Liu, Zhi-Min Wang, Yong Cui, Min Gao |
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| Jazyk: | angličtina |
| Předmět: |
Adult
Male Genetics Candidate gene Sequence analysis Breakpoint Chromosomal translocation Cell Biology Dermatology Biology medicine.disease Biochemistry Pedigree Open Reading Frames Psoriasis Mutation Mutation (genetic algorithm) medicine Humans Coding region Molecular Biology Gene Glutathione Transferase |
| Zdroj: | Journal of Investigative Dermatology. (5):1003-1005 |
| ISSN: | 0022-202X |
| DOI: | 10.1038/sj.jid.5700186 |
| Popis: | A balanced translocation was recently identified in a German psoriasis patient. One of the breakpoints was mapped immediately upstream of the microsomal glutathione S-transferase 2 (MGST2) gene, suggesting it as a candidate gene. Here, we report the identification of a novel non-synonymous mutation in MGST2 by a comprehensive sequence analysis of MGST2's coding region in Chinese psoriasis samples. We demonstrate that this mutation co-segregated with the disease phenotype within a Chinese family affected with psoriasis vulgaris and is predicted to have an impact on the normal function of MGST2 protein. However, the mutation was absent in 551 additional cases and 384 healthy Chinese controls. While requiring independent confirmation, our results suggest that this rare mutation could play a causal role in a small subset of psoriasis individuals. |
| Databáze: | OpenAIRE |
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