解析猪7号和15号染色体影响猪皮厚主效基因位点的分子遗传机理

项目名称： 解析猪7号和15号染色体影响猪皮厚主效基因位点的分子遗传机理

项目编号： No.31460283

项目类型： 地区科学基金项目

立项/批准年度： 2015

项目学科： 生物科学

项目作者： 艾华水

作者单位： 江西农业大学

项目金额： 55万元

中文摘要： 皮肤是动物外皮系统最大的器官，在抵御外界病原菌侵害和防止水分丢失等方面起着重要作用。解析猪皮厚的分子遗传基础有助于我们更好地认知皮肤。皮厚在不同猪种上存在显著变异。课题组前期利用微卫星标记扫描，发现在猪4号、7号和15号染色体上存在3个主效数量性状位点（QTL），尤其是7号染色体上的QTL能够解释23.9%变异；利用60K芯片进行F2资源家系和苏太猪群的全基因组关联分析和荟萃分析，验证了7号和15号的主效QTL。本课题拟利用区域重测序，共享单倍型分析和连锁-连锁不平衡精细定位等方法鉴别7号和15号染色体上影响猪皮厚的因果基因（QTG）和因果突变位点（QTN），并利用远缘群体验证候选QTG和QTN，同时通过基因表达和蛋白功能分析验证QTG和QTN在皮肤生长发育中的调控作用。预期研究结果对阐明猪皮厚的遗传控制和皮肤生长发育规律有重要意义，为深入了解人类皮肤的形成及其发育变化规律提供科学借鉴。

中文关键词： 猪；皮肤厚度；数量性状位点；分子遗传机制

英文摘要： The skin is the largest organ of the integumentary system in mammals, and plays important roles in protecting the body against pathogens and excessive water loss. Deciphering the genetic basis of swine skin thickness will enrich our knowledge about the skin. Porcine skin thickness exists great variation in different pig breeds. Previously we have identified 3 major quantitative trait loci (QTL) on pig chromosomes (SSC) 4, 7 and 15 using microsatellite markers. Of note,the major QTL on SSC7 could explain 23.9% of phenotypic variance. And we comfirmed the QTL on SSC 7 and 15 in a White Duroc × Erhualian F2 resource population and a Sutai pig population using 60k SNP chips. In this project we plan to identify the quantitative trait gene (QTG) and quantitative trait nucleotide (QTN) for skin thickness on SSC 7 and 15 using the following methods including regional resequencing with target-capture methods, fine mapping with shared long-range haplotypes identical by descent (IBD), linkage disequellibrium and linkage analysis (LDLA), and so on. And we plan to validate the effect of candidate QTG and QTN in natural pig populations. Then we are going to perform gene expression analysis and protein functional assay on the identified QTG and QTN and reveal the control mechanism of QTG and QTN in the formation and development of skin. The predicted results might play a key role in enriching our knowledge about the genetic control mechanism of pig skin thickness, and also help us to gain the knowledge of human skin formation and its development.

英文关键词： pig;skin thickness;quantitative trait loci;molecular genetic mechanism