Hurt Carl M, Björk Susann, Ho Vincent K, Gilsbach Ralf, Hein Lutz, Angelotti Timothy
Department of Anesthesia/CCM, Stanford University Medical School, Stanford, CA 94305.
Department of Pharmacology, Drug Development and Therapeutics, Institute of Biomedicine, University of Turku, Turku, Finland FI-20520.
Brain Res. 2014 Jan 30;1545:12-22. doi: 10.1016/j.brainres.2013.12.008. Epub 2013 Dec 16.
The six members of the Receptor Expression Enhancing Protein (REEP) family were originally identified based on their ability to enhance heterologous expression of olfactory receptors and other difficult to express G protein-coupled receptors. Interestingly, REEP1 mutations have been linked to neurodegenerative disorders of upper and lower motor neurons, hereditary spastic paraplegia (HSP) and distal hereditary motor neuropathy type V (dHMN-V). The closely related REEP2 isoform has not demonstrated any such disease linkage. Previous research has suggested that REEP1 mRNA is ubiquitously expressed in brain, muscle, endocrine, and multiple other organs, inconsistent with the neurodegenerative phenotype observed in HSP and dHMN-V. To more fully examine REEP1 expression, we developed and characterized a new REEP1 monoclonal antibody for both immunoblotting and immunofluorescent microscopic analysis. Unlike previous RT-PCR studies, immunoblotting demonstrated that REEP1 protein was not ubiquitous; its expression was restricted to neuronal tissues (brain, spinal cord) and testes. Gene expression microarray analysis demonstrated REEP1 and REEP2 mRNA expression in superior cervical and stellate sympathetic ganglia tissue. Furthermore, expression of endogenous REEP1 was confirmed in cultured murine sympathetic ganglion neurons by RT-PCR and immunofluorescent staining, with expression occurring between Day 4 and Day 8 of culture. Lastly, we demonstrated that REEP2 protein expression was also restricted to neuronal tissues (brain and spinal cord) and tissues that exhibit neuronal-like exocytosis (testes, pituitary, and adrenal gland). In addition to sensory tissues, expression of the REEP1/REEP2 subfamily appears to be restricted to neuronal and neuronal-like exocytotic tissues, consistent with neuronally restricted symptoms of REEP1 genetic disorders.
受体表达增强蛋白(REEP)家族的六个成员最初是根据它们增强嗅觉受体和其他难以表达的G蛋白偶联受体的异源表达的能力而被鉴定出来的。有趣的是,REEP1突变与上下运动神经元的神经退行性疾病、遗传性痉挛性截瘫(HSP)和V型远端遗传性运动神经病(dHMN-V)有关。密切相关的REEP2亚型尚未显示出任何此类疾病关联。先前的研究表明,REEP1 mRNA在脑、肌肉、内分泌和其他多个器官中普遍表达,这与在HSP和dHMN-V中观察到的神经退行性表型不一致。为了更全面地研究REEP1的表达,我们开发并鉴定了一种用于免疫印迹和免疫荧光显微镜分析的新型REEP1单克隆抗体。与先前的RT-PCR研究不同,免疫印迹显示REEP1蛋白并非普遍存在;其表达仅限于神经组织(脑、脊髓)和睾丸。基因表达微阵列分析显示,在颈上神经节和星状交感神经节组织中存在REEP1和REEP2 mRNA表达。此外,通过RT-PCR和免疫荧光染色在培养的小鼠交感神经节神经元中证实了内源性REEP1的表达,表达发生在培养的第4天至第8天之间。最后,我们证明REEP2蛋白表达也仅限于神经组织(脑和脊髓)以及表现出神经元样胞吐作用的组织(睾丸、垂体和肾上腺)。除了感觉组织外,REEP1/REEP2亚家族的表达似乎仅限于神经和神经样胞吐组织,这与REEP1遗传疾病的神经局限性症状一致。