Castellano Esther, Santos Eugenio
Signal Transduction Laboratory, Cancer Research UK London Research Institute, London, UK.
Genes Cancer. 2011 Mar;2(3):216-31. doi: 10.1177/1947601911408081.
H-ras, N-ras, and K-ras are canonical ras gene family members frequently activated by point mutation in human cancers and coding for 4 different, highly related protein isoforms (H-Ras, N-Ras, K-Ras4A, and K-Ras4B). Their expression is nearly ubiquitous and broadly conserved across eukaryotic species, although there are quantitative and qualitative differences of expression depending on the tissue and/or developmental stage under consideration. Extensive functional studies have determined during the last quarter century that these Ras gene products are critical components of signaling pathways that control eukaryotic cell proliferation, survival, and differentiation. However, because of their homology and frequent coexpression in various cellular contexts, it remained unclear whether the different Ras proteins play specific or overlapping functional roles in physiological and pathological processes. Initially, their high degree of sequence homology and the observation that all Ras isoforms share common sets of downstream effectors and upstream activators suggested that they were mostly redundant functionally. In contrast, the notion of functional specificity for each of the different Ras isoforms is supported at present by an increasing body of experimental observations, including 1) the fact that different ras isoforms are preferentially mutated in specific types of tumors or developmental disorders; 2) the different transforming potential of transfected ras genes in different cell contexts; 3) the distinct sensitivities exhibited by the various Ras family members for modulation by different GAPs or GEFs; 4) the demonstration that different Ras isoforms follow distinct intracellular processing pathways and localize to different membrane microdomains or subcellular compartments; 5) the different phenotypes displayed by genetically modified animal strains for each of the 3 ras loci; and 6) the specific transcriptional networks controlled by each isoform in different cellular settings.
H-ras、N-ras和K-ras是典型的ras基因家族成员,在人类癌症中经常因点突变而被激活,编码4种不同但高度相关的蛋白质异构体(H-Ras、N-Ras、K-Ras4A和K-Ras4B)。它们的表达几乎无处不在,并且在真核生物物种中广泛保守,尽管根据所考虑的组织和/或发育阶段,表达存在数量和质量上的差异。在过去的四分之一世纪里,广泛的功能研究已经确定,这些Ras基因产物是控制真核细胞增殖、存活和分化的信号通路的关键组成部分。然而,由于它们在各种细胞环境中的同源性和频繁共表达,不同的Ras蛋白在生理和病理过程中是发挥特定功能还是重叠功能仍不清楚。最初,它们高度的序列同源性以及所有Ras异构体共享共同的下游效应器和上游激活剂这一观察结果表明,它们在功能上大多是冗余的。相比之下,目前越来越多的实验观察结果支持了每种不同Ras异构体具有功能特异性的观点,这些观察结果包括:1)不同的ras异构体在特定类型的肿瘤或发育障碍中优先发生突变;2)转染的ras基因在不同细胞环境中具有不同的转化潜力;3)各种Ras家族成员对不同GAP或GEF调节表现出不同的敏感性;4)不同的Ras异构体遵循不同的细胞内加工途径,并定位于不同的膜微区或亚细胞区室;5)针对3个ras基因座中的每一个进行基因改造的动物品系表现出不同的表型;6)每种异构体在不同细胞环境中控制特定的转录网络。