Zhang Wei, Feng Jianglong, Zeng Wen, Zhou Zhixu, Wang Yu, Lu Hongguang
Department of Dermatology, Affiliated Hospital of Guizhou Medical University, Guiyang, China.
Department of Pathology, Affiliated Hospital of Guizhou Medical University, Guiyang, China.
JID Innov. 2021 Feb 26;1(1):100006. doi: 10.1016/j.xjidi.2021.100006. eCollection 2021 Mar.
In this study, we examined single nucleotide variants (SNVs) of the gene in malignant melanoma and melanocytic nevi. A total of 20 variants of SNVs were detected. Of these variants, five nonsynonymous mutations of were identified, including c.T152C, c.T401C, c.G547A, c.G768A, and c.G992A. Three prediction tools, MutationTaster2, Polymorphism Phenotyping version 2, and PROVEAN (Protein Variation Effect Analyzer), which predict possible impact of an amino acid substitution, suggested that the mutations could be deleterious. Nine SNVs occurred in 3' untranslated regions, whereas two were observed in 5' untranslated regions. In all cases, four intronic variants were identified. In addition, we identified nine 3' untranslated region SNVs in ; one of them (OPN3[NM_014322:c.∗83C>T]) is predicted to disrupt a conserved microRNA (has-miR-376c-3p) target site, located in position 86-93 of 3' untranslated region. Our findings suggest that there is a strong possibility that SNVs play a role in the pathogenesis of melanocytic tumors via prediction of functional phenotype.
在本研究中，我们检测了恶性黑色素瘤和黑素细胞痣中该基因的单核苷酸变异（SNV）。共检测到20个SNV变异。在这些变异中，鉴定出5个该基因的非同义突变，包括c.T152C、c.T401C、c.G547A、c.G768A和c.G992A。三种预测氨基酸替代可能影响的工具，即MutationTaster2、多态性表型分析版本2和PROVEAN（蛋白质变异效应分析器），表明这些突变可能是有害的。9个SNV出现在3'非翻译区，而在5'非翻译区观察到2个。在所有病例中，鉴定出4个内含子变异。此外，我们在[具体基因名称未给出]中鉴定出9个3'非翻译区SNV；其中一个（OPN3[NM_014322:c.*83C>T]）预计会破坏位于3'非翻译区86 - 93位的一个保守的微小RNA（has-miR-376c-3p）靶位点。我们的研究结果表明，通过功能表型预测，SNV很有可能在黑素细胞肿瘤的发病机制中发挥作用。
