Clinical and gonadal transcriptome analysis of 38,XX disorder of sex development pigs†.

IF 4.3 3区 材料科学 Q1 ENGINEERING, ELECTRICAL & ELECTRONIC
Jinhua Wu, Shuwen Tan, Yi Zhou, Haiquan Zhao, Hui Yu, Bingzhou Zhong, Congying Yu, Haoming Wang, Yin Yang, Hua Li, Yugu Li
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Abstract

Pigs serve as a robust animal model for the study of human diseases, notably in the context of disorders of sex development (DSD). This study aims to investigate the phenotypic characteristics and molecular mechanisms underlying the reproductive and developmental abnormalities of 38,XX ovotestis-DSD (OT-DSD) and 38,XX testis-DSD (T-DSD) in pigs. Clinical and transcriptome sequencing analyses were performed on DSD and normal female pigs. Cytogenetic and SRY analyses confirmed that OT/T-DSD pigs exhibited a 38,XX karyotype and lacked the SRY gene. The DSD pigs had higher levels of follicle-stimulating hormone, luteinizing hormone, and progesterone, but lower testosterone levels when compared with normal male pigs. The reproductive organs of OT/T-DSD pigs exhibit abnormal development, displaying both male and female characteristics, with an absence of germ cells in the seminiferous tubules. Sex determination and development-related differentially expressed genes shared between DSD pigs were identified in the gonads, including WT1, DKK1, CTNNB1, WTN9B, SHOC, PTPN11, NRG1, and NXK3-1. DKK1 is proposed as a candidate gene for investigating the regulatory mechanisms underlying gonadal phenotypic differences between OT-DSD and T-DSD pigs. Consequently, our findings provide insights into the molecular pathogenesis of DSD pigs and present an animal model for studying into DSD in humans.

38,XX 性发育障碍猪的临床和性腺转录组分析。
猪是研究人类疾病(尤其是性发育障碍(DSD))的有力动物模型。本研究旨在探讨猪38,XX卵巢-DSD(OT-DSD)和38,XX睾丸-DSD(T-DSD)生殖和发育异常的表型特征和分子机制。对DSD和正常雌性猪进行了临床和转录组测序分析。细胞遗传学和 SRY 分析证实,OT/T-DSD 猪表现为 38,XX 核型,缺乏 SRY 基因。与正常公猪相比,DSD猪的卵泡刺激素、黄体生成素和孕酮水平较高,但睾酮水平较低。OT/T-DSD猪的生殖器官发育异常,既有雄性特征,也有雌性特征,曲细精管中没有生殖细胞。在性腺中发现了DSD猪共有的性别决定和发育相关的差异表达基因(DEG),包括WT1、DKK1、CTNNB1、WTN9B、SHOC、PTPN11、NRG1和NXK3-1。DKK1 被认为是研究 OT-DSD 猪和 T-DSD 猪性腺表型差异调控机制的候选基因。因此,我们的研究结果有助于深入了解 DSD 猪的分子发病机制,并为研究人类 DSD 提供了一个动物模型。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
7.20
自引率
4.30%
发文量
567
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