Intersexuality is a congenital reproductive disorder that usually occurs in hornless goats, hindering breeding of goats with hornless traits and the development of the goat industry. In this study, we aimed to identify differentially expressed genes in intersex and normal goat gonads by comparing gene transcription profiles of intersex and normal goat gonads. As intersex goats are genetically based on females, we chose female goats as controls. The goats in the control group and the experimental group were both over one‐year old. We evaluated the anatomical characteristics of the reproductive organs of five intersex goats using histopathological methods. The gonads were found to be ovarian and testicular types. RNA‐Seq technology was used to identify differentially expressed genes in gonads and normal goat ovary tissues. Transcription analysis results were verified by qPCR. The results showed that 2,748 DEGs were upregulated and 3,327 DEGs were downregulated in intersex ovaries unlike in controls, whereas 2006 DEGs were upregulated and 2032 DEGs were downregulated in the interstitial testes. Many of these genes play important roles in mammalian sex determination and sex differentiation, such as SOX9, WT1, GATA4, DMRT1, DHH, AMH, CYP19A1 and FST. We found that many DEGs are involved in biological developmental regulation by GO and KEGG enrichment analyses, and that most genes associated with the steroid synthesis pathway were downregulated. The DEGs identified in this study may be involved in the regulation of intersex goat sex determination and differentiation, and may increase our understanding of the molecular mechanisms of mammalian sex differentiation.

中文翻译：

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正常山羊卵巢和两性山羊性腺中基因表达的转录组学分析

异性恋是一种先天性生殖疾病，通常发生在无角山羊中，阻碍了具有无角特征的山羊的繁殖和山羊产业的发展。在这项研究中，我们旨在通过比较两性和正常山羊性腺的基因转录谱来鉴定两性和正常山羊性腺中差异表达的基因。由于双性山羊是基于雌性的山羊，因此我们选择雌性山羊作为对照。对照组和实验组的山羊均超过一岁。我们使用组织病理学方法评估了五只双性山羊的生殖器官的解剖特征。发现性腺为卵巢和睾丸类型。RNA‐Seq技术用于鉴定性腺和正常山羊卵巢组织中差异表达的基因。转录分析结果通过qPCR验证。结果表明，与对照不同，两性卵巢中的2,748个DEG被上调，而3,327个DEG被下调，而间质睾丸中2006年的DEG被上调，而2032个DEG被下调。其中许多基因在哺乳动物性别决定和性别分化中起着重要作用，例如SOX9，WT1，GATA4，DMRT1，DHH，AMH，CYP19A1和FST。我们发现许多DEGs通过GO和KEGG富集分析参与了生物发育调控，并且大多数与类固醇合成途径相关的基因均被下调。在这项研究中确定的DEGs可能参与性间山羊性别决定和分化的调节，并可能增加我们对哺乳动物性别分化的分子机制的了解。