Jansen Fabian, Kalbe Benjamin, Scholz Paul, Mikosz Marta, Wunderlich Kirsten A, Kurtenbach Stefan, Nagel-Wolfrum Kerstin, Wolfrum Uwe, Hatt Hanns, Osterloh Sabrina
Cell Physiology, Faculty for Biology and Biotechnology, Ruhr-University Bochum, 44801 Bochum, Germany and.
Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg-University, 55099 Mainz, Germany.
Hum Mol Genet. 2016 Feb 1;25(3):524-33. doi: 10.1093/hmg/ddv490. Epub 2015 Nov 29.
Usher syndrome is a genetically and clinically heterogeneous disease in humans, characterized by sensorineural hearing loss, retinitis pigmentosa and vestibular dysfunction. This disease is caused by mutations in genes encoding proteins that form complex networks in different cellular compartments. Currently, it remains unclear whether the Usher proteins also form networks within the olfactory epithelium (OE). Here, we describe Usher gene expression at the mRNA and protein level in the OE of mice and showed interactions between these proteins and olfactory signaling proteins. Additionally, we analyzed the odor sensitivity of different Usher syndrome mouse models using electro-olfactogram recordings and monitored significant changes in the odor detection capabilities in mice expressing mutant Usher proteins. Furthermore, we observed changes in the expression of signaling proteins that might compensate for the Usher protein deficiency. In summary, this study provides novel insights into the presence and purpose of the Usher proteins in olfactory signal transduction.
尤塞氏综合征是一种人类遗传性和临床异质性疾病，其特征为感音神经性听力损失、色素性视网膜炎和前庭功能障碍。该疾病由编码在不同细胞区室中形成复杂网络的蛋白质的基因突变引起。目前，尚不清楚尤塞氏蛋白是否也在嗅觉上皮（OE）内形成网络。在这里，我们描述了小鼠OE中尤塞氏基因在mRNA和蛋白质水平的表达，并展示了这些蛋白质与嗅觉信号蛋白之间的相互作用。此外，我们使用嗅觉电图记录分析了不同尤塞氏综合征小鼠模型的气味敏感性，并监测了表达突变尤塞氏蛋白的小鼠在气味检测能力方面的显著变化。此外，我们观察到信号蛋白表达的变化，这些变化可能补偿尤塞氏蛋白的缺乏。总之，本研究为尤塞氏蛋白在嗅觉信号转导中的存在和作用提供了新的见解。
