基于基因组目标区域重测序技术鉴定影响奶牛产奶性状的功能突变

项目名称： 基于基因组目标区域重测序技术鉴定影响奶牛产奶性状的功能突变

项目编号： No.31201772

项目类型： 青年科学基金项目

立项/批准年度： 2013

项目学科： 畜牧学与草地科学、兽医学、水产学

项目作者： 姜力

作者单位： 中国农业大学

项目金额： 25万元

中文摘要： 挖掘产奶性状功能基因历来是奶牛分子育种的关键。全基因组关联分析（GWAS）是当前基因检测的主流方法，但由于GWAS检测的SNP大多与潜在功能突变处于连锁不平衡，真正发现的功能基因极为有限。基于第二代测序的基因组目标区域捕获技术，为深入分析GWAS结果、检测功能基因突变提供了新的策略。本研究基于团队前期开展的中国荷斯坦奶牛GWAS研究结果，选择与产奶性状显著相关的候选基因组区段，对60头公牛实施基因组目标区域捕获、富集，并采用Illumina高通量测序平台进行重测序，从而挖掘目标区段的所有遗传变异和新基因，构建产奶性状相关基因组热点区域的全新遗传标记图谱。同时利用生物信息学和比较基因组学方法筛选重要功能候选突变，并利用新的资源群体进行关联分析，检测影响产奶性状的功能突变位点。本项目的开展对揭示奶牛产奶性能遗传基础及关键变异作用的分子机理具有重要意义，为我国奶牛分子育种提供科学依据和基因资源。

中文关键词： 奶牛；产奶性状；目标区域重测序；关联分析；功能验证

英文摘要： The identification of genetic variants affecting milk production traits is very crucial for molecular breeding in dairy cattle. So far, genome wide association study (GWAS) has been widely accepted as a primary approach for gene finding relevant to complex traits and achieved huge success in identifying genes. The potential limitation of GWAS is the specific genes and causal variants underlying these traits have not yet been clearly defined because most of detected SNPs are mostly not the causal genes due to the potential linkage disequilibrium (LD) between the causal variant and genotyped markers. This concern may be overcome with the recent advances in next generation sequencing technology, which makes it possible to comprehensively catalog genetic variation in population samples and creates a foundation for understanding complex traits. In current project, by using target-enrichment strategy coupled with high-throughput next generation sequencing of illumina Solex platform, we will resequence genomic regions associated with milk production traits in 60 unrelated sire individuals. These target regions of the bovine genome were determined according to the findings from our initial GWAS. Among all common as well as rare variants detected in the sequencing target regions, we further perform bioinformatics and com

英文关键词： Dairy cattle；Milk production traits；Target-enrichment resequencing；Association analysis；Functional Validation