生物谷报道:BRAF和MEK基因突变一语惊醒梦中人
摘要: 鸟苷三磷酸KRAS和蛋白激酶BRAF,是促分裂素原活化蛋白激酶的激酶的激酶,它们和促分裂素原活化蛋白激酶的激酶1和2都是MAPK信号系统信号分子.KRAS、BRAF、和MEK1/2参与大量的生命过程并在胚胎发育过程中扮演重要角色.KRAS,BRAF,和MEK1/2高频率出现在肿瘤中,它可能预示着生殖细胞突变中编码生殖细胞的基因的增加和丢失都会导致胚胎的死亡.两篇关于KRAS,BRAF,和MEK1/2基因的生殖细胞突变的文章报道了三基因也与GFC综合症息息相关,意料之外的发现确证了KRAS,BRAF,和MEK1/2基因的突变通过germline导致特定的胚胎发育综合症.这一发现毫无疑问对这些蛋白功能以及遗传性脑癌非遗传性脑癌的研究都非常具有价值.
原始出处:Nick Duesbery* and George Vande Woude Van Andel Institute, 333 Bostwick Avenue NE, Grand Rapids, MI 49503, USA. BRAF and MEK Mutations Make a Late Entrance
Summary: The small guanosine triphosphatase KRAS and the protein kinases BRAF, which is a mitogen-activated protein kinase kinase kinase (MAPKKK), and mitogen-activated protein kinase kinase 1 and 2 (MAPKK1/2, also known as MKK1/2 or MEK1/2) are signaling partners in the MAPK signal transduction pathway. They are involved in many biological processes and play crucial roles during embryonic development. When inappropriately expressed, KRAS, BRAF, and MEK1/2 are also frequently implicated in tumor progression. Hence, it might reasonably have been predicted that either loss- or gain-of-function germline mutations in the genes that encode them would cause embryonic death. However, in a surprising development, two articles report that germline mutations in the KRAS, BRAF, and MEK1/2 genes are associated with cardio-facio-cutaneous (CFC) syndrome. This unexpected discovery demonstrates that mutations in KRAS, BRAF, and MEK can pass through the germline to cause specific developmental syndromes. This finding will undoubtedly stimulate further research into the function of these proteins in development and in both inherited and sporadic cancers.
友情连接:BRAF and MEK Mutations Make a Late Entrance
