中文摘要
毛发是人类和动物外观的重要特征之一,人类对遗传性脱发和稀发十分关注。本项目利用先期建立的无毛大白猪群体对无毛性状遗传机理加以解析,一方面为人类遗传性脱发和稀发遗传机理研究提供借鉴,另一方面为进一步挖掘与无毛性状关联的肉质等重要经济性状奠定基础。随着大数据时代的来临,以各种组学为核心的基因挖掘策略在复杂性状遗传解析中展现了强大效力,但传统的单一组学分析在带来海量信息的同时,也引发了高假阳性等弊端,不能精准高效筛选候选基因,加大了后期基因功能验证的困难。针对此,本研究利用整合组学思想,通过DNA芯片分析、mRNA测序和全基因组甲基化测序分析,整合DNA信息、表达谱信息和甲基化信息,提高候选基因筛选的可靠性和准确性,同时采用生物信息学分析手段,筛选出影响猪无毛性状的功能候选基因;进而在个体水平和细胞水平上,从RNA组织特异性表达、蛋白质组织特异性表达和细胞三个方面对候选基因进行功能验证。
英文摘要
Hair is one of the important characteristics of appearance in human and animal. The genetic mechanism of alopecia and thinning hair has drawn more attention in human genetics research. The project aims to decipher genetic architecture of hairless trait based on our pre-established hairless pig population, in order to provide helpful clues for relevant investigations in human, in addition, it will also be useful to resolve trait of meat quality, which is associated with hairless trait. With the adventure of the era of big data, the gene mapping based on omics data is showing efficiency and power in the resolution of complex traits. While the traditional omics analysis mainly focuses on high throughout data from single source, it easily brings high false positive and could not dig out candidate genes accurately, resulting in increase the difficulty of function verification. Therefore, the integrative omics strategy is implemented in this project to integrate the information of DNA chip, mRNA sequencing and whole genome methylation, the reliability and accuracy of identifying candidate genes are expected to be improved. Thereafter, candidate genes are further explored through bioinformatics tools, and their functions are verified from three aspects of tissue-specific expression from RNA, tissue-specific expression from protein and cellular.
