巴马香猪作为矮小品系应用于生物医学研究，目前对其比例性矮小机制尚不明确。研究表明IGF-1和IGF-1R缺乏在其体型矮小中起关键作用。前期研究发现巴马香猪在IGF-1R基因编码区、启动子、内含子及3’UTR存在独特单倍型，本项目拟检测IGF-1R编码区不同单倍型对蛋白质折叠速率、构象的影响，配体-受体间相互作用、自身磷酸化水平及相关信号通路的差异及不同单倍型对细胞增殖、分化和迁移的影响；从基因转录、翻译水平明晰其非编码区SNPs对IGF-1R表达量的改变；观察不同猪种IGF-1R可变剪切体存在及分布，阐明其功能及对IGF-1R主转录本的干扰；明确IGF-1R启动子区的重叠基因与IGF-1R表达之间的线性关系。综上，本研究将全面深入解析SNPs对小型猪IGF-1R功能的影响及其分子机制，提出猪IGF-1R表达及功能新的调控机制，为巴马香猪作为研究机体生长的模式动物奠定理论数据。

As a dwarf breed, Bama Mini-pigs is widely applied into the biomedical researches. At present, the formation mechanism of “proportional dwarfism” of the mini-pigs is poorly understood. Studies indicated that IGF-1/IGF-1R deficiency is critical in animal dwarfism. In our previous studies, unique haplotypes were found in the coding region, promoter region and 3’UTR of the IGF-1R gene in Bama Mini-pigs. In this study, we will first elucidate the effect of the different haplotypes located in the coding region of IGF-1R gene on the rate and conformation of the protein folding, clarify the influence on the phosphorylation level of the membrane protein and the transmission of the relevant signal pathway and expound the conformation change on the receptor-ligand interaction, then further compare the difference of cell proliferation, differentiation and migration among different haplotypes; secondly, we will analyze the expression difference of the IGF-1R caused by the SNPs located in the non-coding region through the levels of transcription and translation; thirdly, the existence and distribution of the alternative splicing from different pig breeds will be explored the significance; In addition, the relations between the overlapping gene and IGF-1R gene will be analyzed. In conclusion, this study will be a comprehensive in-depth analysis of the influence of SNPs on the function of IGF-1R in mini-pigs and its molecular mechanism, which may be particularly important when it comes to SNPs associations with IGF-1R expression and function by the new regulated mechanism of the variable responses in mini-pigs and large pigs. Furthermore, this study will lay foundations to the Bama mini-pigs as model animals on growth and development.