生物谷報(bào)道:BRAF和MEK基因突變一語(yǔ)驚醒夢(mèng)中人
摘要: 鳥(niǎo)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,它們和促分裂素原活化蛋白激酶的激酶1和2都是MAPK信號(hào)系統(tǒng)信號(hào)分子.KRAS、BRAF、和MEK1/2參與大量的生命過(guò)程并在胚胎發(fā)育過(guò)程中扮演重要角色.KRAS,BRAF,和MEK1/2高頻率出現(xiàn)在腫瘤中,它可能預(yù)示著生殖細(xì)胞突變中編碼生殖細(xì)胞的基因的增加和丟失都會(huì)導(dǎo)致胚胎的死亡.兩篇關(guān)于KRAS,BRAF,和MEK1/2基因的生殖細(xì)胞突變的文章報(bào)道了三基因也與GFC綜合癥息息相關(guān),意料之外的發(fā)現(xiàn)確證了KRAS,BRAF,和MEK1/2基因的突變通過(guò)germline導(dǎo)致特定的胚胎發(fā)育綜合癥.這一發(fā)現(xiàn)毫無(wú)疑問(wèn)對(duì)這些蛋白功能以及遺傳性腦癌非遺傳性腦癌的研究都非常具有價(jià)值.
原始出處: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.
友情連接:BRAF and MEK Mutations Make a Late Entrance
