Chen Zhihua, Yao Diwen, Guo Dongchun, Sun Yuan, Liu Lu, Kou Mingxing, Yang Xiuqin, Di Shengwei, Cai Jiancheng, Wang Xibiao, Niu Buyue
College of Animal Science and Technology, Northeast Agricultural University, Harbin, China.
State Key Laboratory of Veterinary Biotechnology, Harbin Veterinary Research Institute, Chinese Academy of Agricultural Sciences (CAAS), Harbin, China.
Front Vet Sci. 2022 Nov 4;9:1034187. doi: 10.3389/fvets.2022.1034187. eCollection 2022.
The present study aimed to search for functional mutations within the promoter of porcine and to provide causative genetic variants associated with piglet diarrhea. We firstly confirmed that expressed higher in the small intestine than in the spleen, stomach and large intestine of SPF piglets, respectively ( < 0.05). Then, 10 genetic variations in the porcine STAT3 promoter region was identified by direct sequencing. Among them, three mutations SNP1: g.-870 G>A, SNP2: g.-584 A>C and a 6-bp Indel in the promoter region that displayed significant differential transcriptional activities were identified. Association analyses showed that SNP1: g.-870 G>A was significantly associated with piglet diarrhea ( < 0.05) and the GG animals had lower diarrhea score than AA piglets ( < 0.01) in both Min and Landrace population. Further functional analysis revealed that E2F6 repressed the transcriptional efficiency of , by binding the G allele of SNP1. The present study suggested that SNP1: g.-870 G>A was a piglet diarrhea-associated variant that directly affected binding with E2F6, leading to changes in transcription which might partially contribute to piglet diarrhea susceptibility or resistance.
本研究旨在寻找猪启动子区域内的功能性突变，并提供与仔猪腹泻相关的致病基因变异。我们首先证实，在SPF仔猪的小肠中表达量分别高于脾脏、胃和大肠（<0.05）。然后，通过直接测序在猪STAT3启动子区域鉴定出10个基因变异。其中，鉴定出三个突变，即SNP1：g.-870 G>A、SNP2：g.-584 A>C以及启动子区域的一个6碱基插入/缺失，它们表现出显著的差异转录活性。关联分析表明，SNP1：g.-870 G>A与仔猪腹泻显著相关（<0.05），在民猪和长白猪群体中，GG基因型动物的腹泻评分均低于AA基因型仔猪（<0.01）。进一步的功能分析表明，E2F6通过结合SNP1的G等位基因抑制STAT3的转录效率。本研究表明，SNP1：g.-870 G>A是一个与仔猪腹泻相关的变异，它直接影响与E2F6的结合，导致STAT3转录变化，这可能部分导致仔猪腹泻易感性或抗性。
