鸭凤头性状（Crest）致因突变位点鉴定与作用机制研究

鸭凤头性状（Crest，Cr）因表型独特，具有较高的观赏价值，凤冠下伴生有肉瘤，更可作为优质肉鸭产业化急切需求的自身包装性状；研究发现该性状还与脑疝密切相关，亦可作为脑疝疾病的动物模型。虽该性状呈显性遗传趋势，但调控该性状形成的分子机理至今尚未阐明，严重影响了凤头性状的广泛利用。本课题组前期对候选基因Hoxc8、EphB2等进行了检测，发现均与该性状无关。因此本研究拟采用全基因组重测序技术找出与凤头性状相关的SNPs、InDels等变异信息，确定关键位置候选基因，鉴别因果突变位点，并利用qPCR、原位杂交、免疫组化或荧光素酶报告基因系统、EMSA对Cr基因编码区或调控区突变位点进行验证与功能鉴定，最后采用RCAS-Cr（MT）介导或转录因子siRNA介导crcr鸭胚，活体检测Cr基因的表达和表型变化。研究最终将揭示鸭凤头性状的形成与遗传分子机制，推进该性状的保护利用进程。

The crest trait was characterized by a pinch of fuzz which was growing and forming the ornamental head crests overhead in ducks. Under the fuzz generally associated with sarcoma which can be used as packaging traits of high quality duck. And it was also found that the trait was closely related to cerebral hernia in other studies. Although this trait was dominant inheritance, the regulation of the formation and the molecular mechanism of this trait have not been elucidated clearly, which affected the process of utilization of the trait seriously. In the prophase of this study, we had tested the candidate genes of crested traits, such as Hoxc8 gene, EphB2 gene. Unfortunately, these two genes had no influence on this trait. Thus, we firstly intends to use whole genome resequencing technology to find the SNPs, InDels and Structural Variations which were related with crested traits. And then determine the position of the key candidate genes; identify the causal mutations of the trait. The Real -time quantitative PCR, fluorescent in situ hybridization（FISH）, Immunohistochemistry, or dual luciferase report system, EMSA technology were used to identify and verify the function of the causal mutations. At last, RCAS-Cr（MT） or transcription factor siRNA mediated crcr type embryo to detect the expression of Cr gene and phenotypic change over the head. This study will eventually reveal the formation and the genetic and molecular mechanism of the crested traits of the crested duck, and promote the process of conservation and utilization of the traits.