1. Sox10 Gene is Required for the Survival of Saccular and Utricular Hair Cells
- Author
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Qing-qing Jiang, Shi-ming Yang, Yuan Shuolong, Wei Sun, Wei-Wei Guo, Li-sheng Yu, Jing-cui Qi, and Long Ma
- Subjects
Text mining ,business.industry ,SOX10 ,otorhinolaryngologic diseases ,sense organs ,Biology ,business ,Gene ,Cell biology - Abstract
Background:. Pathological changes of the cochlea and hearing loss have been well addressed in Waardenburg syndrome (WS). However, the vestibular organ malformation in WS is still largely unknown. In this study, the differentiation and development of vestibular sensory epithelium and vestibular function caused by SOX10 mutation, a critical gene induces WS, has been studied in minature pig model. Results: Degeneration of vestibular hair cells was found in this Sox10 mutation porcine model. Inner ear phenotype of the SOX10+/R109W miniature pigs showed cochlear abnormalities as well as saccular hypofunction. In the mutant pigs, no prominent dissimilarity was shown in the bone structure of the semicircular canals. However, the saccular membrane was collapsed and the infusion of stereocilia of the hair cells were observed. There was no dark cells in the uticules in th mutant pigs. The density of the utricular hair cells was also significantly lower in the mutant pigs compared to the wild type. Conclusions: Our study demonstrated that the SOX10 gene and melanocytes play important roles in the vestibular organ development. Sox10 mutation disrupts the KIT-DCT signaling pathway, affects the development of melanocytes and leads to vestibule morphogenesis.
- Published
- 2021
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