SOX9 regulates epithelial‐mesenchymal transformation by mediating the Wnt/β‐catenin signaling pathway in hypospadias

Abstract The transcription factor SOX9 is crucial in the development and differentiation of various tissues and cells. However, the roles of SOX9‐dependent genes and pathways in normal urethral development and the mechanism of hypospadias are unclear. This study collected 15 foreskin tissue specimen...

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Main Authors: Xueyu He, Zhicheng Zhang, Zhenmin Liu, Qiang Zhang, Chunlan Long, Lianju Shen, Guanghui Wei, Xing Liu
Format: Article
Language:English
Published: Wiley 2024-12-01
Series:Pediatric Discovery
Subjects:
Online Access:https://doi.org/10.1002/pdi3.94
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author Xueyu He
Zhicheng Zhang
Zhenmin Liu
Qiang Zhang
Chunlan Long
Lianju Shen
Guanghui Wei
Xing Liu
author_facet Xueyu He
Zhicheng Zhang
Zhenmin Liu
Qiang Zhang
Chunlan Long
Lianju Shen
Guanghui Wei
Xing Liu
author_sort Xueyu He
collection DOAJ
description Abstract The transcription factor SOX9 is crucial in the development and differentiation of various tissues and cells. However, the roles of SOX9‐dependent genes and pathways in normal urethral development and the mechanism of hypospadias are unclear. This study collected 15 foreskin tissue specimens from patients who underwent hypospadias repair surgery and compared them to normal foreskin tissue specimens obtained during circumcision. The expression levels of SOX9, WNT signaling pathway markers, and epithelial‐mesenchymal transition (EMT) markers were analyzed in both groups. It was found that mRNA and protein levels of SOX9, WNT signaling pathway, and EMT mesenchymal markers were significantly reduced in the hypospadias group compared to the normal foreskin group. In contrast, mRNA and protein levels of epithelial markers were significantly increased in the hypospadias group. Immunofluorescence confirmed the decrease in SOX9 expression. Experiments using siRNA to inhibit SOX9 expression in foreskin fibroblasts yielded similar results to the hypospadias group. The findings suggest that down‐regulation of SOX9 expression may contribute to the development of hypospadias by down‐regulating the WNT pathway and inhibiting EMT. These findings provide new insights into the embryonic development of the urethra.
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issn 2835-558X
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publishDate 2024-12-01
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spelling doaj-art-beac2c84a43e45649af9d634ec51b0872024-12-25T02:21:42ZengWileyPediatric Discovery2835-558X2835-55982024-12-0124n/an/a10.1002/pdi3.94SOX9 regulates epithelial‐mesenchymal transformation by mediating the Wnt/β‐catenin signaling pathway in hypospadiasXueyu He0Zhicheng Zhang1Zhenmin Liu2Qiang Zhang3Chunlan Long4Lianju Shen5Guanghui Wei6Xing Liu7Department of Urology Children's Hospital of Chongqing Medical University Chongqing ChinaDepartment of Urology Children's Hospital of Chongqing Medical University Chongqing ChinaDepartment of Urology Children's Hospital of Chongqing Medical University Chongqing ChinaDepartment of Urology Children's Hospital of Chongqing Medical University Chongqing ChinaNational Clinical Research Center for Child Health and Disorders Ministry of Education Key Laboratory of Child Development and Disorders Children's Hospital of Chongqing Medical University Chongqing ChinaNational Clinical Research Center for Child Health and Disorders Ministry of Education Key Laboratory of Child Development and Disorders Children's Hospital of Chongqing Medical University Chongqing ChinaDepartment of Urology Children's Hospital of Chongqing Medical University Chongqing ChinaDepartment of Urology Children's Hospital of Chongqing Medical University Chongqing ChinaAbstract The transcription factor SOX9 is crucial in the development and differentiation of various tissues and cells. However, the roles of SOX9‐dependent genes and pathways in normal urethral development and the mechanism of hypospadias are unclear. This study collected 15 foreskin tissue specimens from patients who underwent hypospadias repair surgery and compared them to normal foreskin tissue specimens obtained during circumcision. The expression levels of SOX9, WNT signaling pathway markers, and epithelial‐mesenchymal transition (EMT) markers were analyzed in both groups. It was found that mRNA and protein levels of SOX9, WNT signaling pathway, and EMT mesenchymal markers were significantly reduced in the hypospadias group compared to the normal foreskin group. In contrast, mRNA and protein levels of epithelial markers were significantly increased in the hypospadias group. Immunofluorescence confirmed the decrease in SOX9 expression. Experiments using siRNA to inhibit SOX9 expression in foreskin fibroblasts yielded similar results to the hypospadias group. The findings suggest that down‐regulation of SOX9 expression may contribute to the development of hypospadias by down‐regulating the WNT pathway and inhibiting EMT. These findings provide new insights into the embryonic development of the urethra.https://doi.org/10.1002/pdi3.94epithelial‐mesenchymal transformationhypospadiasSOX9WNT/β‐catenin
spellingShingle Xueyu He
Zhicheng Zhang
Zhenmin Liu
Qiang Zhang
Chunlan Long
Lianju Shen
Guanghui Wei
Xing Liu
SOX9 regulates epithelial‐mesenchymal transformation by mediating the Wnt/β‐catenin signaling pathway in hypospadias
Pediatric Discovery
epithelial‐mesenchymal transformation
hypospadias
SOX9
WNT/β‐catenin
title SOX9 regulates epithelial‐mesenchymal transformation by mediating the Wnt/β‐catenin signaling pathway in hypospadias
title_full SOX9 regulates epithelial‐mesenchymal transformation by mediating the Wnt/β‐catenin signaling pathway in hypospadias
title_fullStr SOX9 regulates epithelial‐mesenchymal transformation by mediating the Wnt/β‐catenin signaling pathway in hypospadias
title_full_unstemmed SOX9 regulates epithelial‐mesenchymal transformation by mediating the Wnt/β‐catenin signaling pathway in hypospadias
title_short SOX9 regulates epithelial‐mesenchymal transformation by mediating the Wnt/β‐catenin signaling pathway in hypospadias
title_sort sox9 regulates epithelial mesenchymal transformation by mediating the wnt β catenin signaling pathway in hypospadias
topic epithelial‐mesenchymal transformation
hypospadias
SOX9
WNT/β‐catenin
url https://doi.org/10.1002/pdi3.94
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