Xin Shijie, Wang Xiaohui, Dai Guojun, Zhang Jingjing, An Tingting, Zou Wenbin, Zhang Genxi, Xie Kaizhou, Wang Jinyu
College of Animal Science and Technology, Yangzhou University, Yangzhou 225009, China.
Key Lab for Animal Genetics, Breeding, Reproduction and Molecular Design of Jiangsu Province, Yangzhou 225009, China.
Genes (Basel). 2018 Sep 6;9(9):446. doi: 10.3390/genes9090446.
The proinflammatory cytokine, interleukin-6 (IL-6), plays a critical role in many chronic inflammatory diseases, particularly inflammatory bowel disease. To investigate the regulation of gene expression at the molecular level, genomic DNA sequencing of Jinghai yellow chickens () was performed to detect single-nucleotide polymorphisms (SNPs) in the region -2200 base pairs (bp) upstream to 500 bp downstream of . Transcription factor binding sites and CpG islands in the promoter region were predicted using bioinformatics software. Twenty-eight SNP sites were identified in . Four of these 28 SNPs, three [-357 (G > A), -447 (C > G), and -663 (A > G)] in the 5' regulatory region and one in the 3' non-coding region [3177 (C > T)] are not labelled in GenBank. Bioinformatics analysis revealed 11 SNPs within the promoter region that altered putative transcription factor binding sites. Furthermore, the C-939G mutation in the promoter region may change the number of CpG islands, and SNPs in the 5' regulatory region may influence gene expression by altering transcription factor binding or CpG methylation status. Genetic diversity analysis revealed that the newly discovered A-663G site significantly deviated from Hardy-Weinberg equilibrium. These results provide a basis for further exploration of the promoter function of the gene and the relationships of these SNPs to intestinal inflammation resistance in chickens.
促炎细胞因子白细胞介素-6(IL-6)在许多慢性炎症性疾病,尤其是炎症性肠病中起关键作用。为了在分子水平上研究基因表达的调控,对京海黄鸡()进行了基因组DNA测序,以检测基因上游2200个碱基对(bp)至下游500 bp区域内的单核苷酸多态性(SNP)。使用生物信息学软件预测基因启动子区域中的转录因子结合位点和CpG岛。在基因中鉴定出28个SNP位点。这28个SNP中的4个,5'调控区域中的3个[-357(G>A)、-447(C>G)和-663(A>G)]以及3'非编码区域中的1个[3177(C>T)]在GenBank中未标记。生物信息学分析显示启动子区域内有11个SNP改变了推定的转录因子结合位点。此外,启动子区域中的C-939G突变可能会改变CpG岛的数量,5'调控区域中的SNP可能会通过改变转录因子结合或CpG甲基化状态来影响基因表达。遗传多样性分析表明,新发现的A-663G位点显著偏离哈迪-温伯格平衡。这些结果为进一步探索基因的启动子功能以及这些SNP与鸡肠道炎症抗性的关系提供了依据。