组织工程与重建外科杂志

组织工程与重建外科杂志 ›› 2016, Vol. 12 ›› Issue (5): 322-324.doi: 10.3969/j.issn.1673-0364.a460

• 综述 • 上一篇    下一篇

葡萄酒色斑中GNAQ基因突变的研究进展

朱佳芳，于文心，马刚，林晓曦   

  1. 上海交通大学医学院附属第九人民医院整复外科
  • 发布日期:2020-07-23

GNAQ M utations in P ort-W ine S tains

ZHU Jiafang,YUWenxin,MA Gang,LIN Xiaoxi   

  1. Department of Plastic and Reconstructive Surgery,Shanghai Ninth People's Hospital,Shanghai Jiaotong University School of Medicine,Shanghai 200011,China.Corresponding author:LIN Xiaoxi E-mail:linxiaoxi@126.com).
  • Published:2020-07-23
  • Contact: 国家自然科学基金面上项目（81272127）；上海市卫生系统重要疾病联合攻关重点项目（2013ZYJB0014）。

摘要： 鸟嘌呤核苷酸结合蛋白q多肽(Guanine nucleotide binding protein q polypeptide,GNAQ)是GTP结合蛋白异源三聚体的组成部分,能够通过结合细胞表面受体介导下游信号通路。最近的研究发现,葡萄酒色斑(Port-wine stains,PWS)中GNAQ p.Arg183点突变,可能介导细胞外信号调节激酶(Extracellular signal-regulated kinase,ERK)信号通路。本文对GNAQ基因突变可能介导的下游信号通路,包括丝裂原活化蛋白激酶(mitogen-activated protein kinase,MAPK)、G蛋白信号调节因子5(regulator of G protein signaling 5,RGS5)、蛋白激酶C(protein kinase C,PKC)和YAP等信号通路进行综述。

关键词: 葡萄酒色斑, 鸟嘌呤核苷酸结合蛋白q多肽, 丝裂原活化蛋白激酶, G蛋白信号调节因子5, 蛋白激酶C

Abstract: G-alpha-q （GNAQ） is the alpha subunit of the heterotrimeric GTP-binding proteins that mediates the regulators of several downstream signaling through coupling cell surface receptors. Recently, lesions within port-wine stains are found harbor mutations in GNAQ p.Arg183 and may at least associate with ERK （extracellular signal-regulated kinase） signaling pathways. In this paper, the mutations of GNAQ within port-wine stains and the multiple activated signaling targets downstream of mutant GNAQ, including MAPK, RGS5, PKC and YAP pathways were reviewed.

Key words: Port-wine stains, Guanine nucleotide binding protein q polypeptide, Mitogen-activated protein kinase, Regulator of G protein signaling 5, Protein kinase C

中图分类号: