Renauld Justine M, Iskusnykh Igor Y, Yamoah Ebenezer N, Smith Richard J H, Affortit Corentin, He David Z, Liu Huizhan, Nichols David, Bouma Judith, Nayak Mahesh K, Weng Xin, Qin Tianli, Sham Mai Har, Chizhikov Victor V, Fritzsch Bernd
Department of Biomedical Sciences, Creighton University, Omaha, NE, United States.
Department of Anatomy and Neurobiology, The University of Tennessee Health Science Center, Memphis, TN, United States.
Front Cell Dev Biol. 2025 Mar 5;13:1537505. doi: 10.3389/fcell.2025.1537505. eCollection 2025.
The transcription factor is widely expressed during early inner ear development, and mice lacking expression exhibit fusion of cochlear and vestibular hair cells and fail to form the ductus reuniens and the endolymphatic sac. ( ), a recessive null mutation, results in non-functional expression, which expands from the outer sulcus to the stria vascularis and Reissner's membrane. In the absence of , we observe a lack of proteins specific to the stria vascularis, such as BSND and KCNQ1 in marginal cells and CD44 in intermediate cells. Further analysis of the superficial epithelial cell layer at the expected stria vascularis location shows that the future intermediate cells migrate during embryonic development but subsequently disappear. Using antibodies against pendrin () in knockout (KO) mice, we observe an expansion of pendrin expression across the stria vascularis and Reissner's membrane. Moreover, in the absence of expression, no endocochlear potential is observed. These findings highlight the critical role of in inner ear development, particularly in the differentiation of cochlear and vestibular structures, the recruitment of pigment cells, and the expression of proteins essential for hearing and balance.
转录因子在内耳早期发育过程中广泛表达，缺乏该转录因子表达的小鼠表现出耳蜗和前庭毛细胞融合，并且未能形成连合管和内淋巴囊。（某基因），一种隐性无效突变，导致无功能的（某蛋白）表达，其表达从外沟扩展至血管纹和Reissner膜。在缺乏（该基因）的情况下，我们观察到血管纹特有的蛋白缺失，如边缘细胞中的BSND和KCNQ1以及中间细胞中的CD44。对预期血管纹位置的浅表上皮细胞层进行进一步分析表明，未来的中间细胞在胚胎发育过程中迁移，但随后消失。在（该基因）敲除（KO）小鼠中使用抗pendrin（某蛋白）抗体，我们观察到pendrin表达在整个血管纹和Reissner膜上扩展。此外，在缺乏（该基因）表达的情况下，未观察到内淋巴电位。这些发现突出了（该基因）在内耳发育中的关键作用，特别是在耳蜗和前庭结构的分化、色素细胞的募集以及听力和平衡所必需的蛋白质表达方面。
