The Role of Notch-RFX Signaling in Ciliogenesis

身体的每个器官都有独特的功能，促进身体对环境刺激的反应能力。一个器官是由具有不同特征的细胞组成的，这些特征使该器官能够发挥其功能。虽然所有细胞最初都是由单一细胞类型衍生而来，但特定细胞内的基因程序可以告诉该细胞将变成什么。信号发送细胞分泌的化学物质可以激活接收信号的邻近细胞中的基因程序。因此，细胞内产生的蛋白质相互作用并执行细胞的特殊功能。感知环境变化是一种独特的细胞功能，它是由一种叫做纤毛的结构承担的，它从细胞表面伸出来。许多疾病可由干扰纤毛的合成和功能的过程引起。在比尔斯实验室，我们的目标是识别指示细胞产生纤毛的化学信号。同时，我们将调查一个患有罕见纤毛相关疾病的家庭的遗传缺陷。这项工作对包括肾衰竭、肥胖和糖尿病在内的广泛的纤毛相关疾病的治疗具有重要意义。

Every organ in the body has unique functions which facilitates the body‘s ability to react to environmental stimuli. An organ is made up of cells with different characteristics which allow that organ to carry out its function. While all cells are initially derived from a single cell type, a programme of genes within a given cell can tell that cell what to become. Chemicals secreted by signal-sending cells can activate a programme of genes in neighbouring cells which receive the signal. As a result, proteins are made within the cell which interact with each other and carry out the special functions of that cell. Sensing changes in the environment is a unique cellular function that is undertaken by structures called cilia which project from the cell surface. Many diseases can result from processes which interfere with the synthesis and function of cilia. We, in the Beales laboratory aim to identify the chemical signals which instruct cells to make cilia. At the same time, we will be investigating genetic defects in a family with a rare cilia-related disease. This work has important implications for the treatment of a wide range of cilia-related diseases that include kidney failure, obesity and diabetes.