牦牛Y染色体雄性特异区的de novo组装及SNP图谱构建

Y染色体雄性特异区（Male specific region of Y chromosome, MSY）遵循父系遗传，该区域的遗传变异是探究哺乳动物父系遗传多样性、群体遗传结构和起源进化等问题的重要依据。本研究针对当前牦牛Y染色体MSY区结构组成不明确，尚无MSY区单核苷酸多态性变异图谱，缺乏父系遗传分子标记这一科学问题，拟结合采用三代测序Nanopore和二代测序Illumina测序技术对牦牛MSY区进行de novo测序、组装及注释，开展牦牛与普通牛、小鼠、马等物种间MSY区的比较分析，揭示物种间MSY区结构异同。全面扫描15个牦牛品种/群体公牦牛的Y染色体MSY区SNPs（Y-SNPs）进而构建Y-SNPs变异图谱。该研究将为揭示牦牛Y染色体MSY区组成特征和发掘Y染色体分子标记提供科学依据。因此，本研究对牦牛种公牛早期鉴定与新品种选育具有重要理论与实践意义。

Male specific region of Y chromosome (MSY) strictly follows paternal inheritance. The genetic variations in MSY play an important role in the exploration of the paternal genetic diversity, population genetic structure, and origin and evolution of mammals. At present, the structure characterization of MSY region of the yak is not clear and no Y chromosome single nucleotide polymorphism (Y-SNP) map for the yak MSY region is reported. Meanwhile, there is no abundant paternal molecular genetic marker in yak. In this project, we aim to combine Nanopore and Illumina sequencing technology to de novo sequence, assemble and annotate the MSY region sequence of yak. We will carry out the comparative analysis of MSY regions between yak and other species such as cattle, mouse and horse to indicate the difference. At the same time, we will scan the genetic variations of yak MSY region and construct the Y-SNP map based on 15 yak breeds/populations. The study would provide important information for identifying the structural characteristics of the yak MSY region and exploring Y-SNP markers. Therefore, the study has important theoretical and practical significance for early identification of yak bulls and breeding of new breeds.