生物
睾丸决定因素
卵黄
性发育障碍
性腺
背景(考古学)
转录组
内分泌学
内科学
性反转
睾酮(贴片)
性腺发育不全
遗传学
基因
Y染色体
基因表达
医学
古生物学
作者
Jinhua Wu,Shuo Tan,Yi Zhou,Haiquan Zhao,Hui Yu,Bingzhou Zhong,Cong Yu,Haoming Wang,Yuehui Yin,Hua Li,Yugu Li
标识
DOI:10.1093/biolre/ioae046
摘要
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 (DEGs) 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.
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