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与猪繁殖功能相关的候选基因和表达数量性状基因座的鉴定

Identification of Candidate Genes and eQTLs Related to Porcine Reproductive Function.

作者信息

Zeng Tong, Wang Ji, Liu Zhexi, Wang Xiaofeng, Zhang Han, Ai Xiaohua, Deng Xuemei, Wu Keliang

机构信息

National Engineering Laboratory for Animal Breeding, Department of Animal Genetics and Breeding, College of Animal Science and Technology, China Agricultural University, Beijing 100193, China.

Frontier Technology Research Institute of China Agricultural University in Shenzhen, Shenzhen 518119, China.

出版信息

Animals (Basel). 2025 Apr 3;15(7):1038. doi: 10.3390/ani15071038.

Abstract

Expression quantitative trait locus (eQTL) mapping is an effective tool for identifying genetic variations that regulate gene expression. An increasing number of studies suggested that SNPs associated with complex traits in farm animals are considered as expression quantitative trait loci. Identifying eQTLs associated with gene expression levels in the endometrium helps to unravel the regulatory mechanisms of genes related to reproductive functions in this tissue and provides molecular markers for the genetic improvement of high-fertility sow breeding. In this study, 218 RNA-seq data from pig endometrial tissue were used for eQTL analysis to identify genetic variants regulating gene expression. Additionally, weighted gene co-expression network analysis (WGCNA) was performed to identify hub genes involved in reproductive functions. The eQTL analysis identified 34,876 significant cis-eQTLs regulating the expression of 5632 genes (FDR ≤ 0.05), and 90 hub genes were identified by WGCNA analysis. By integrating eQTL and WGCNA results, 14 candidate genes and 16 fine-mapped cis-eQTLs were identified, including , , , , , , , , , , , , , and , which were involved in the physiological processes of reproduction in sows through hormone regulation, cell adhesion, and amino acid and lipid metabolism. These eQTLs regulate the high expression of candidate genes in the endometrium, thereby affecting reproductive-related physiological functions. These findings enhance our understanding of the genetic basis of reproductive traits and provide valuable genetic markers for marker-assisted selection (MAS), which can be applied to improve sow fecundity and optimize breeding strategies for high reproductive performance.

摘要

表达数量性状基因座(eQTL)定位是识别调控基因表达的遗传变异的有效工具。越来越多的研究表明,与家畜复杂性状相关的单核苷酸多态性(SNP)被视为表达数量性状基因座。识别与子宫内膜基因表达水平相关的eQTL有助于揭示该组织中与生殖功能相关基因的调控机制,并为高产母猪育种的遗传改良提供分子标记。在本研究中,使用来自猪子宫内膜组织的218个RNA测序数据进行eQTL分析,以识别调控基因表达的遗传变异。此外,还进行了加权基因共表达网络分析(WGCNA),以识别参与生殖功能的枢纽基因。eQTL分析确定了34,876个显著的顺式eQTL,调控5632个基因的表达(错误发现率≤0.05),通过WGCNA分析确定了90个枢纽基因。通过整合eQTL和WGCNA结果,确定了14个候选基因和16个精细定位的顺式eQTL,包括 、 、 、 、 、 、 、 、 、 、 、 、 和 ,它们通过激素调节、细胞粘附以及氨基酸和脂质代谢参与母猪的生殖生理过程。这些eQTL调节子宫内膜中候选基因的高表达,从而影响与生殖相关的生理功能。这些发现增强了我们对生殖性状遗传基础的理解,并为标记辅助选择(MAS)提供了有价值的遗传标记,可应用于提高母猪繁殖力和优化高繁殖性能的育种策略。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8e7c/11987867/b5160f154c8b/animals-15-01038-g001.jpg

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