College of Veterinary Medicine, Gansu Agricultural University, Lanzhou, China.
College of Animal Science and Technology, Henan University of Animal Husbandry and Economy, Zhengzhou, China.
Reprod Domest Anim. 2021 Jan;56(1):12-25. doi: 10.1111/rda.13844. Epub 2020 Dec 21.
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.
间性是一种先天性生殖障碍，通常发生在无角羊中，阻碍了无角性状羊的繁殖和养羊业的发展。在这项研究中，我们旨在通过比较间性和正常山羊性腺的基因转录谱来鉴定间性和正常山羊性腺中的差异表达基因。由于间性山羊在基因上基于雌性，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头间性山羊生殖器官的解剖特征。发现性腺为卵巢和睾丸类型。我们使用 RNA-Seq 技术鉴定了性腺和正常山羊卵巢组织中的差异表达基因。通过 qPCR 验证转录分析结果。结果表明，与对照组相比，间性卵巢中有 2748 个 DEGs 上调，3327 个 DEGs 下调，而间质睾丸中有 2006 个 DEGs 上调，2032 个 DEGs 下调。其中许多基因在哺乳动物性别决定和性别分化中发挥重要作用，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节，并且与类固醇合成途径相关的大多数基因都下调了。本研究中鉴定的 DEGs 可能参与调节间性山羊的性别决定和分化，可能增加我们对哺乳动物性别分化的分子机制的理解。
