microRNA基因位点在家猪驯化和品种形成中的作用

Gene silence mediated by microRNA plays important role in epigenetic regulation. MiRNA gene variations were reported as the key factors of human disease and animal phenotypic variation. This project will firstly construct custom sequence capture array, according to the annotation information of porcine miRNA genes. The miRNA loci in pig genome of 19 pig breeds and wild boar will be target captured and deep sequcening.Then the seqencing reads will be aligned to reference genome, and SNP、Indel and SV will be called. Mutations will annotationed depending on falling loci and type. Genetic effects of mutations to pre-miRNA secondary structure, miRNA targeting and miRNA process will be predicted by in silico analysis.The thrid, evolutionary genomics of miRNA gene loci will be analyzed, identify the selection pressures on miRNA gene, and the role of miRNA gene in breed formation will be illuminated.The candidate mutations that affect the production traits and genetic disorders will be picked out for functional validation.

miRNA参与的基因沉默与抑制是表观遗传调控的重要方式，miRNA自身特征和表达水平受其编码基因和周围调控区域序列的影响，越来越多的研究表明miRNA基因的遗传变异是导致人类各类疾病和动物表型变异的关键因素。项目基于对猪基因组miRNA基因的注释，构建自定义序列捕获芯片，对猪19个家猪品种共479个体和5个野猪个体基因组的miRNA基因位点进行靶向捕获和深度测序；随后与参考基因组比对，鉴定SNP、Indel和SV等基因组遗传变异，并按照突变发生位点和类型对变异进行注释，预测突变对前体二级结构、miRNA剪切加工和靶基因识别等生物学过程的效应；并利用进化基因组学手段，鉴定miRNA片段功能原件受到的选择压力分析，找出受到强烈选择的miRNA区域，阐释miRNA基因在品种形成中的作用；另外选择可能对猪生产性状和先天性疾病有重要遗传效应的miRNA突变进行功能验证，鉴定出有育种价值的遗传标记。

miRNA参与的基因沉默与抑制是表观遗传调控的重要方式，miRNA自身特征和表达水平受其编码基因和周围调控区域序列的影响，越来越多的研究表明miRNA 基因的遗传 变异是导致人类各类疾病和动物表型变异的关键因素。项目基于对猪基因组 miRNA 基因的注释，构建自定义序列捕获芯片；对猪 19 个家猪品种共 479个个体和 5 个野猪个体基因组的 miRNA 基因位点进行靶向捕获和深度测序；发现 96137个猪基因组miRNA位点SNP，其中1762个位于miRNA发夹结构编码区中；发现在亚洲家猪驯化中受强烈选择的miRNA多态位点65个，分别属于25个miRNA；鉴定出具有显著遗传效应的miRNA位点SNP 3个；发现具有育种价值的miRNA分子标记1个；发表有标注论文7篇，其中SCI论文4篇，累计影响因子达25.558；申请专利2项，获得专利授权1项；获得国家级奖励1项，省部级奖励1项。