NONSENSE MUTATIONS IN THE C-TERMINAL SH2 REGION OF THE GTPASE-ACTIVATING PROTEIN (GAP) GENE IN HUMAN TUMORS
NONSENSE MUTATIONS IN THE C-TERMINAL SH2 REGION OF THE GTPASE-ACTIVATING PROTEIN (GAP) GENE IN HUMAN TUMORS
复制标题
DOI：
10.1038/ng1193-242
复制
发表时间：
1993-11-01
期刊：
影响因子：
30.8
通讯作者：
MCCORMICK, F
中科院分区：
文献类型：
--
作者：
FRIEDMAN, E;GEJMAN, PV;MCCORMICK, F
GTPase激活蛋白（GAP）参与正常ras蛋白的下调及一些生长因子的信号转导通路。我们在188个人类肿瘤中筛选了催化结构域和C端SH2区GAP的突变。在基底细胞癌的SH2区域检测到三个无义突变，在催化区域未发现突变。我们得出结论，GAP SH2区域的突变可能在肿瘤发生中起作用，而GAP催化区域的失活突变对肿瘤的发展没有贡献。
GTPase Activating Protein (GAP) is involved in down-regulating normal ras proteins and in the signal transduction pathway of some growth factors. We have screened 188 human tumours for mutations in the catalytic domain and at the C terminal SH2 region GAP. Three nonsense mutations in basal cell carcinomas were detected in the SH2 region and no mutations could be demonstrated in the catalytic domain. We conclude that mutations in the SH2 region of GAP may play a role in tumorigenesis and that inactivating mutations of the GAP catalytic domain do not contribute to tumour development.