畜牧兽医学报 ›› 2025, Vol. 56 ›› Issue (9): 4129-4142.doi: 10.11843/j.issn.0366-6964.2025.09.001
林晓, 李瑞杰, 刘龙, 耿拓宇*, 龚道清*
收稿日期:
2024-11-01
发布日期:
2025-09-30
通讯作者:
耿拓宇,主要从事动物遗传育种与繁育研究;E-mail:tygeng@yzu.edu.cn;龚道清,主要从事动物遗传育种与繁育研究;E-mail:yzgong@163.com
作者简介:
林晓(1997-),女,山东济宁人,博士,主要从事动物遗传与繁殖研究,E-mail:1069905738@qq.com
基金资助:
LIN Xiao, LI Ruijie, LIU Long, GENG Tuoyu*, GONG Daoqing*
Received:
2024-11-01
Published:
2025-09-30
摘要: 动物的性别决定(sex determination)是有性繁殖动物在性别发生分化后分别发育为雌性或雄性个体且出现形态和生理差异的现象。动物的性别决定分为环境型和遗传型。目前已查明一些基因在动物性别决定中扮演重要角色。动物的性别决定还与DNA的甲基化密不可分,比如哺乳动物X染色体的全域DNA甲基化。然而,DNA甲基化在不同物种性别决定中的作用却存在着显著的差异。本文对动物性别决定的影响因素和关键基因以及基因的DNA甲基化与不同物种性别决定的关联进行综述,为进一步研究动物性别决定机制提供有益参考。
中图分类号:
林晓, 李瑞杰, 刘龙, 耿拓宇, 龚道清. 动物的性别决定基因及其甲基化调控的研究进展[J]. 畜牧兽医学报, 2025, 56(9): 4129-4142.
LIN Xiao, LI Ruijie, LIU Long, GENG Tuoyu, GONG Daoqing. Research Progress on Sex Determining Genes and Their Methylation Regulation in Animals[J]. Acta Veterinaria et Zootechnica Sinica, 2025, 56(9): 4129-4142.
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Genes (Basel), 2021, 12(9): 1459. 表2 DNA甲基化在动物性别决定中的作用 Table 2 The role of DNA methylation in animal sex determination动物分类 Classification of animals物种 Animal species基因 Gene科学证据 Scientific evidence文献 Reference哺乳动物 Mammal小鼠 SRY 在E11.5胚胎中,SRY开始表达,SRY上游CpG位点会发生性腺特异性的低甲基化;在E15.5胚胎中, SRY上游CpG位点又恢复到高甲基化状态而使其表达停止 [54] GADD45G GADD45G基因被敲除后,其性别会从雄性转变为雌性,这可能与GADD45G基因诱导 SRY基因的DNA去甲基化有关 [55] 鸟类 Bird鸡MHMMHM区域附近的雌性基因的表达量显著高于雄性,雄性性腺的MHM甲基化水平高于雌性 [62] 爬行动物 Reptile海龟 美洲鳄红耳龟短吻鳄 AMH、AR、GATA4、 LHX9和SF1在雄性中表达量升高可能是雌性中这些基因启动子甲基化导致的,它们影响卵巢形成, 并且在雄性中被甲基化[64、65] CYP19A1 与在FPT下孵育相比,MPT孵化的胚胎中性腺的CYP19A1基因启动子甲基化水平较高, 基因表达水平降低 [67] SOX9与MPT相比,FPT孵育导致SOX9基因启动子甲基化增加,胚胎性腺中表达量减少 [67] DMRT1 MPT性腺中DMRT1基因启动子中CpG甲基化的水平显著低于FPT性腺中DMRT1 基因启动子中CpG甲基化的水平[26、68] CYPl9A1CYP19A1基因的启动子区域CpG位点的DNA甲基化水平随着温度的变化而变化 [68] CYP19A1和SOX9 MPT下性腺中CYP19A1基因启动子甲基化升高,且相对于在FPT的基因表达水平降低, SOX9基因在雌性胚胎的性腺中的DNA甲基化水平高于雄性 [67] 两栖动物 Batrachians中国大鲵 LHX9和CYP19A1 四个CpG位点在睾丸中的甲基化水平显著高于卵巢,且与LHX9基因的表达呈负相关; CpG甲基化水平与发育中的卵巢的CYP19A1基因的表达呈负相关 [69] 鱼类 Pisces硬骨鱼CYP19A1和DMRT1近端启动子和第一外显子的DNA甲基化水平在睾丸和卵巢之间存在差异 [70] 欧洲鲈鱼 CYP19A 雄性性腺的CYP19A基因启动子处的DNA甲基化水平是雌性的两倍,随着温度的升高, CYP19A基因启动子的DNA甲基化水平也增加 [72] 黑鲷CYP19A1CYP19A1基因的启动子会逐渐去甲基化,这与其卵巢发育有关 [73] 尖吻鲈 CYP19A1、AMH、 DMRT1和NR5A2雄性个体CYP19A1和AMH基因的甲基化水平比雌性高, 而雌性中DMRT1和NR5A2基因的甲基化水平比雄性高 [77] 尼罗罗非鱼 CYP19A1A 早期发育阶段经历高温会增加CYP19A1A基因启动子的DNA甲基化水平, 这与CYP19A1A基因的mRNA表达水平升高相一致 [78] 翘嘴鲌鱼DMRT1DMRT1基因的启动子CpG在睾丸中未甲基化,而在卵巢中高度甲基化 [79] 舌鳎AMHAMH基因在雄性中的表达量高于雌性,且AMH基因的表达与DNA甲基化有关 [80] [7] 郑 钢, 连 玲. 鸡性别决定及分化关键调控基因DMRT1研究进展[J]. 畜牧兽医学报, 2023, 54(8): 3152-3163. 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