基于转录组数据筛选下丘脑-垂体轴中猪卵巢囊肿相关候选基因

doi:10.16431/j.cnki.1671-7236.2025.12.018

摘要/Abstract

摘要： 【目的】挖掘下丘脑-垂体轴中猪卵巢囊肿相关候选基因，从神经内分泌系统揭示猪卵巢囊肿的遗传机制。【方法】利用Illumina高通量测序技术分别对3头卵巢囊肿和3头正常发情母猪的下丘脑和垂体进行转录组测序，筛选差异表达基因，并对差异表达基因进行GO功能和KEGG通路富集分析。利用实时荧光定量PCR对下丘脑和垂体中12个差异表达基因表达量进行检测，以验证转录组测序数据的可靠性。【结果】与正常发情母猪相比，在卵巢囊肿母猪下丘脑中共有283个基因存在差异表达，其中173个基因表达下调，110个基因表达上调；在卵巢囊肿母猪垂体中共有1 149个基因存在差异表达，其中563个基因表达下调，586个基因表达上调。基于差异表达基因的表达量、差异倍数及功能富集分析等结果，POMC、KISS1、PMCH、PRLH、VIP、NTRK1、TAC3可能是下丘脑中与猪卵巢囊肿相关的重要候选基因；MC3R、SSTR3、FSHB、OXT、PRL、TSHB、LHB、TAC1可能是垂体中与猪卵巢囊肿相关的重要候选基因。G-蛋白偶联受体信号通路、激素活性、跨膜信号受体活性、神经活性配体-受体相互作用、甲状腺激素合成及ECM受体相互作用等信号通路可能对猪卵巢囊肿的发生起重要作用。实时荧光定量PCR验证的差异基因表达趋势与转录组测序结果基本一致。【结论】转录组测序结果表明，下丘脑中POMC、KISS1、PMCH等基因及垂体中MC3R、SSTR3、FSHB等基因可能是猪卵巢囊肿相关重要候选基因；G-蛋白偶联受体信号通路、激素活性、跨膜信号受体活性等通路可能在猪卵巢囊肿病理过程中起重要作用。研究结果为从神经内分泌系统解析猪卵巢囊肿的遗传机制提供了重要的数据支撑。

关键词: 母猪; 卵巢囊肿; 下丘脑-垂体轴; 转录组; 差异表达基因

Abstract: 【Objective】 This study aimed to reveal the genetic mechanisms of porcine ovarian cysts from the neuroendocrine system perspective,the candidate genes related to porcine ovarian cysts in the hypothalamus-pituitary axis were identified. 【Method】 The hypothalamus and pituitary tissues from three sows with ovarian cysts and three normal estrus sows were subjected to RNA-Seq using Illumina high-throughput sequencing technology.Differentially expressed genes were screened,and subjected to GO function and KEGG pathway enrichment analysis.The expression of 12 differentially expressed genes in hypothalamus and pituitary were validated using Real-time quantitative PCR to verify the reliability of the transcriptome data. 【Result】 Compared with the normal estrus sows,a total of 283 genes were significantly differentially expressed in hypothalamus of sows with ovarian cysts,including 173 down-regulated and 110 up-regulated genes.In the pituitary of sows with ovarian cysts,a total of 1 149 genes were significantly differentially expressed,including 563 down-regulated and 586 up-regulated genes.Based on the expression of the differentially expressed genes,FoldChange,as well as the results of GO function and KEGG pathway enrichment analysis, POMC, KISS1,PMCH,PRLH, VIP, NTRK1,and TAC3 were identified as potential candidate genes related to ovarian cysts in hypothalamus,whereas MC3R,SSTR3,FSHB,OXT,PRL,TSHB, LHB,and TAC1 were proposed as potential candidate genes in pituitary.Key pathways such as G-protein coupled receptor signaling pathway,hormone activity,transmembrane signal receptor activity,neuroactive ligand-receptor interaction,thyroid hormone synthesis,and ECM-receptor interaction might play an important role in the occurrence of ovarian cysts.Real-time quantitative PCR results showed that the expression trends of differentially expressed genes were basically consistent with RNA-Seq data. 【Conclusion】 Genes such as POMC,KISS1,and PMCH in hypothalamus,and MC3R,SSTR3,and FSHB in pituitary,might be candidate genes related to porcine ovarian cysts.Pathways including G-protein coupled receptor signaling pathway,hormone activity,and transmembrane signaling receptor activity likely played important roles in the pathological process of porcine ovarian cysts.The results provided crucial data support for elucidating the genetic mechanisms of porcine ovarian cysts from the perspective of the neuroendocrine system.

Key words: sows; ovarian cysts; hypothalamic-pituitary axis; transcriptome; differentially expressed genes

中图分类号:

S814.8

任巧玲, 张家庆, 张世昌, 刘维民, 陈俊峰, 马强, 刘付玖, 张华, 邢宝松. 基于转录组数据筛选下丘脑-垂体轴中猪卵巢囊肿相关候选基因[J]. 中国畜牧兽医, 2025, 52(12): 5726-5739.

REN Qiaoling, ZHANG Jiaqing, ZHANG Shichang, LIU Weimin, CHEN Junfeng, MA Qiang, LIU Fujiu, ZHANG Hua, XING Baosong. Screening for Candidate Genes Related to Porcine Ovarian Cysts in Hypothalamic-pituitary Axis Based on Transcriptome Data[J]. China Animal Husbandry & Veterinary Medicine, 2025, 52(12): 5726-5739.

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