拷贝数变异对家鸡重要经济性状表型及基因表达的影响

项目名称： 拷贝数变异对家鸡重要经济性状表型及基因表达的影响

项目编号： No.31301963

项目类型： 青年科学基金项目

立项/批准年度： 2014

项目学科： 农业科学

项目作者： 侯娅丽

作者单位： 中国科学院北京基因组研究所

项目金额： 24万元

中文摘要： 拷贝数变异（CNV）是各物种基因组的重要特征之一，对畜禽重要经济性状的表型起着重要作用，与目前被普遍研究的遗传变异SNP相比，具有独特不可或缺的研究意义，有望解释全基因组关联分析所缺失的遗传力。针对目前家鸡CNV研究刚起步的现状，本研究拟采用产蛋和产肉这两个重要经济性状为目标性状，从CNV这个全新的角度，以全同胞极端表型配对组为研究对象，利用第二代测序技术，分别从基因组水平和转录组水平，准确地构建CNV和转录组表达图谱，通过配对组间比较，寻找差异CNV和差异表达基因（DEG），功能注释后鉴定潜在影响产蛋和产肉的CNV及基因；检测这两组变异（CNV和DEG）之间的内在联系，通过转录组表达图谱的差异来验证CNV影响表型的遗传机制，详尽地刻画CNV对家鸡重要经济性状表型和基因表达的影响机制，从而为家鸡的分子育种提供新的遗传标记或选择策略，并为该类科学问提的研究提供重要技术支持。

中文关键词： 拷贝数变异；鸡；表型分化；经济性状；基因组测序

英文摘要： Copy number variation (CNV) is one of the important genomic characteristics, influencing on lots of diseases and phenotypes of important economic traits in livestock and poultry industry. Compared to the commonly used molecular marker like single nucleotide polymorphism(SNP), CNV deserves a unique and significant understanding, which would be expected to explain the missing heritability. Confronting with the situation that the CNV studies in chicken are just at the very beginning, this study is proposed to accommodate two important economic traits like egg production and meat production, design an elaborate experiment called full-sib paired individuals with extreme performances, take advantage of the advanced sequencing technology, accurately construct the whole-genome profiles of CNVs and gene expressions, identify the distinct CNVs and differentially expressed genes through paired comparisons, further determine the potentially causative CNVs and genes for these two target traits by integrating the information of gene interpretation and quantitative trait loci. Additionally, this study is proposed to explore the inner connections between distinct CNVs and differentially expressed genes, investigate the genetic mechanisms by which CNVs shape the profile of gene expressions thereby the phenotypes, specifying the

英文关键词： Copy number variation；Chicken；Phenotypic divergence；Economic traits；Genome sequencing