Group E Sox Regulation of Inner Ear Development

Sox E 组对内耳发育的调节

• 批准号: 7275280
• 负责人: KIMBERLY M JAFFE
• 金额: $ 1.02万
• 依托单位: NORTHWESTERN UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2005
• 资助国家: 美国
• 起止时间: 2005-09-01 至 2007-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7275280
• 关键词: Acceleration; Binding Proteins; Biological Markers; Boxing; Cells; Cochlea; Complex; Congenital Abnormality; Consensus; DNA Binding Domain; Data; Detection; Development; Developmental Process; Ear; Epithelium; Equilibrium; Family; Family member; Fellowship; Genes; HMG Domain; Hearing; Human; Individual; Labyrinth; Ligase; Link; Modification; Molecular; Mutation; Names; Neural Crest; Neurons; Numbers; Organ; Otic Placodes; Otic Vesicle; Pattern; Phosphorylation Site; Pigments; Play; Post-Translational Protein Processing; Protein Family; Protein Isoforms; Protein Overexpression; Proteins; Regulation; Role; Sensorineural Hearing Loss; Sensory; Signal Transduction; Site; Stria Vascularis; Structure; Subgroup; Surface Ectoderm; System; Translations; Work; Xenopus; Yeasts; casein kinase I; congenital deafness; design; hindbrain; member; mutant; neural plate; promoter; protein protein interaction; research study; transcription factor; yeast two hybrid system

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.

描述（由申请人提供）：SOX转录因子家族属于DMA结合蛋白的高迁移率族（HMG）盒超家族，并调节许多发育过程，如细胞特化和器官发育。SOX家族由亚组A-J组成，其特征在于高度保守的HMG结构域，即DNA结合结构域。SOX家族亚组E的两个成员Sox 9和Sox 10通过两个未表征的同源结构域（称为E1和E2）的存在而进一步区分。Sox 9和Sox 10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。本申请的目的是研究这两种SOX家族成员在耳基板发育中发挥的功能和机制作用。这将通过研究Sox 9和Sox 10之间的潜在功能冗余，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。