DLK1-DIO3印记簇在家畜胚胎发育中的研究进展

doi:10.19543/j.cnki.1673-4556.20260803.001

摘要/Abstract

摘要：

印记基因是通过表观遗传机制调控的、依亲本来源而特异性表达的基因，它们往往成簇分布，是正常胚胎发育和个体健康的关键调节因子。其中DLK1-DIO3印记簇是影响家畜胚胎发育与胎盘形成的关键调控区域，其印记状态主要由父源特异性甲基化的核心印记控制区IG-DMR（印记基因差异甲基化区域）决定簇内整体亲本表达模式，GTL2-DMR（GTL2差异甲基化区域）作为次级DMR维持母源转录本稳定表达。该文综述了该基因簇的组成、印记调控模式及其功能，尤其是重点总结了父源印记基因DLK1、RTL1、DIO3和母源印记基因GTL2等在胎盘血管生成、肌肉生长、神经分化与能量代谢中的调控功能。并围绕极性超显性遗传的Callipyge（美臀）羊典型案例，揭示可通过调控该基因簇来改善家畜肉用性状和繁殖性能，以期为提升家畜生产性能与繁殖效率提供理论参考。

关键词: 基因组印记, DLK1-DIO3, 家畜, 胚胎发育

Abstract:

Imprinted genes are regulated through epigenetic mechanisms and are expressed in a parent-of-origin-specific manner. These genes are often clustered together and serve as crucial regulators in normal embryonic development and individual health. The DLK1-DIO3 imprinted cluster is a key regulatory region influencing livestock embryonic development and placental formation. The imprinting status of this cluster is primarily determined by the parent-of-origin-specific methylation of the core imprinting control region, IG-DMR(Imprinting Gene Differentially Methylated Region), which governs the overall parent-specific expression pattern of the cluster. GTL2-DMR(GTL2-Differentially Methylated Region), as a secondary DMR, maintains the stable expression of the maternal transcripts. This review summarizes the composition, imprinting regulation, and functional roles of this cluster, with a particular focus on the regulatory functions of the paternal genes DLK1, RTL1, DIO3, and the maternal gene GTL2 in placental angiogenesis, muscle growth, neural differentiation, and energy metabolism. The case of the Callipyge (CLPG) sheep, exhibiting a polar overdominant inheritance pattern, highlights the potential of manipulating this gene cluster to improve meat production traits and reproductive performance in livestock, so as to provide theoretical reference for improving the production performance and reproductive efficiency of livestock.

Key words: Genomic imprinting, DLK1-DIO3, Livestock, Embryonic development

中图分类号:

鞠思含, 朱梁, 赵温倩, 刘忠华, 翁晓刚. DLK1-DIO3印记簇在家畜胚胎发育中的研究进展[J]. 中国畜禽种业, 2026, 22(9): 95-102.

Sihan Ju, Liang Zhu, Wenqian Zhao, Zhonghua Liu, Xiaogang Weng. Research progress on the DLK1–DIO3 imprinted cluster in livestock embryonic development[J]. Chinese Livestock and Poultry Breeding, 2026, 22(9): 95-102.

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