我国西北人群性别偏向性混合的全基因组研究

Northwest China has been the contacting zone connecting the eastern and western culture since ancient times. The intercation between eastern and western populations is a complex and a long history process with the eastward of western populations accompanied by the Eastern Eurasians also migrated west. Since the migration history of human populations in northwestern China was often accompanied by trades and warfares, we expect that the sex-biased gene flow occurred almost inevitably which had a profound impact on genetic diversity of the admixed populations and genetic make-up of individuals. Besides, the sex-biased gene flow is of significant value in understanding not only the history of population origin and migration, but also the mechanism of complex diseases. Therefore, in this project, we plan to particularly analyze the sex-biased admixture in five Northwestern Chinese populations with whole-genome sequencing data available, by applying the methods and pipeline which have already developed in the applicant’s previous studies. We propose a genome-wide stratege with not only traditional Y-chromosomal and mitochondria DNA markers, but also X-chomosomal and autosomal data being taken into acounted the analysis. We believe it is necessary including X-chomosomal and autosomal data because this is the only way that we are able to reveal admixture pattern on individual level, in addtion, anlaysis based on Y and mtDNA are substantially affected by demographic history of populations and sampling error. In summary, the goal of this project is to reveal the sex-biased admixture qualitatively and estimate its magnitude quantificationally in Northwestern Chinese populations and. Furthermore, we attempt to take the Northwestern Chinese populations as a model to explore the mechanism of sex-biased admixture on shaping population genectic diversity, which may have great evolutionary and medical implications.

我国西北地区自古是东西方文明的纽带和东西方人群的融汇之地。东西方人群间的基因交流伴随着贸易和征战，不可避免地存在性别偏向性。而性别偏向性的遗传混合对人群的遗传结构和个体的遗传组成产生深远的影响，在进化和医学上都具有重要研究价值。本项目拟充分利用所属实验室已具备的西北5个人群全基因组测序数据，在申请人前期已初步建立的分析方法基础上，针对西北人群性别偏向性混合进行专门研究。本项目选择全基因组分析策略的必要性在于：对Y染色体和线粒体DNA的分析只能得到群体水平的粗略估计，而且受近期人口流动和抽样误差影响较大；而更可靠的结果、尤其在个体水平的体现以及对个体基因组的影响只有通过对常染色体和X染色体的比较分析才能充分揭示出来。本项目的主要目标为：揭示西北人群中性别偏向性混合模式并定量估计性别偏向性混合的程度；力图阐明西北人群中性别偏向性混合的可能机制；探索其对人类遗传结构的影响及其生物医学意义。

本项目的主要目标为：揭示西北人群中性别偏向性混合模式并定量估计性别偏向性混合的程度；阐明西北人群中性别偏向性混合的可能机制；探索其对人类遗传结构的影响及其生物医学意义。本项目实施过程中对西北人群中性别偏向性混合模式进行了深入研究，揭示了西北人群的遗传混合特征和东西方人群基因交流历史；探索了西北混合人群的性别偏向性混合遗传学基础，取得了阶段性的成果，为进一步研究奠定了良好基础并最终阐明西北人群的起源和迁移历史以及环境适应机制打下基础，并为后续研究提供数据资源、研究方法。项目执行期间，共发表论文11篇（均已标注本项目基金号 31501011），其中第一作者论文3篇，发表在基因组生物学Genome Biology，分子生物学与进化Molecular Biology and Evolution和分子遗传和基因组Molecular Genetics and Genomics。