申请者在前期研究中外品种基因组变异时发现大量拷贝数变异区域（CNVRs）。本项目以野猪到家猪驯化过程中在中西方品种存在差异的CNVRs中的4个免疫相关基因—TLR9 、IL1R1、ZAP70和NLRX1为候选基因，开展如下研究：（1）基因拷贝数变异的验证和CNV边界鉴定；（2）基因功能研究。以免疫细胞—猪巨噬细胞为材料，超表达或抑制表达候选基因，检测NF-кB调控通路活化与否来评价基因在免疫中的作用；（3）研究拷贝数变异对基因功能的影响。采用（2）中方法，在细胞水平和活体水平检测候选基因发生拷贝数变异后细胞中NF-кB下游通路的激活状况。综合上述结果分析候选基因及其拷贝数变异对NF-кB的调控作用。本项目对于揭示中外猪种在驯化过程中基因组中拷贝数变异的差异、拷贝数变异中大片段缺失、重复对基因功能产生的影响，对于发掘中国地方猪品种资源优势和保护利用具有重要意义。

We have identified lots of CNVRs (copy number variation regions) from the samples of both Chinese and foreign pig breeds based on 60K SNP array and next generation sequence data in our previous researches. In this project, we propose to chose four immune-associate genes (TLR9 、IL1R1、ZAP70和NLRX1) from those differential CNVRs between Chinese and foreign pig breeds occurred during domestication as our candidate genes to conduct studies as follows:.（1）To validate copy number of the candidate genes by qPCR and identify boundaries of these CNVs by long fragment amplification method..（2）To identify the function of these candidate genes. In order to evaluate their immune function, we plan to detect the activity of NF-кB signal by overexpress or knockdown the candidate genes in porcine macrophages..（3）To Investigate the effect of CNVs on candidate genes function. we are going to detect the functional alternation of candidate genes between two groups(CNV-positive and CNV-negative) . Utilizing the methods of (2), we will compare the function of these genes in vitro and in vivo..This project reveals the significance of the effect of large sequence variations on gene functions during domestication in Chinese and foreign pig breeds, and plays an crucial role in evaluating, conserving and utilizing Chinese local pig breeds.