Group E Sox Regulation of Inner Ear Development

描述(申请人提供)：SOX转录因子家族属于高迁移率组(HMG)盒超家族的DMA结合蛋白，并调节许多发育过程，如细胞规格和器官发育。SOX家族由A-J亚群组成，具有高度保守的HMG结构域，即DNA结合域。SOX家族E亚组的两个成员，SOX9和SOX10，由于存在两个未知的同源结构域而被进一步区分，分别称为E1和E2。Sox9和Sox10都与内耳发育有关，这些基因的特定突变可能导致先天性耳聋。本应用的目的是研究这两个SOX家族成员在耳道胎盘发育中所起的功能和机制作用。这将通过观察Sox9和Sox10之间潜在的功能冗余、不同的蛋白质-蛋白质相互作用以及可能的翻译后修饰来探索。

DESCRIPTION (provided by applicant): The SOX family of transcription factors belongs to the High Mobility Group (HMG) box superfamily of DMA-binding proteins and regulates many developmental processes, such as cell specification and organ development. The SOX family, comprised of subgroups A-J, is characterized by a highly conserved HMG domain, the DNA binding domain. Two members of SOX family subgroup E, Sox9 and Sox10, are further distinguished by the presence of two uncharacterized homology domains, termed E1 and E2. Both Sox9 and Sox10 have been implicated in inner ear development, and specific mutations in these genes can cause congenital deafness. The aim of this application is to investigate the functional and mechanistic role that these two SOX family members play in the development of the otic placode. This will be explored by looking at potential functional redundancy between Sox9 and Sox10, different protein-protein interactions, and possible post-translational modifications.