旨在通过全基因组受选择区域信号检测结合单核苷酸多态性与性状关联分析鉴定出高原型藏羊羊毛性状新的分子标记和候选基因.本研究采集3～4周岁健康母羊耳组织与羊毛作为试验素材,其中高原型藏羊母羊119只,欧拉型藏羊母羊89只,总计208只.利用群体遗传分化指数(Fst)和碱基多样性比值(Pi Ratio)进行全基因组选择性清除分析,通过功能注释筛选候选基因,并进行GO和KEGG富集分析,对108只高原型藏羊进行候选基因外显子Sanger测序单核苷酸多态性与表型数据关联分析,鉴定出与羊毛性状相关的功能位点.分析结果表明:共有1 084个受选择区域,注释到1 037个候选基因;通过对功能基因的注释并结合文献分析,发现GHR、FG-FR 3、MC1R、MITF、FGF5、WNT2B和WN T 5A等7个基因与羊毛性状有潜在关联,其中FGF 5(exon6:c.954C/T:p.227P/P)同义突变位点和首次发现的FGFR3(exon6:c.1092C/T:p.364A/A)同义突变位点与羊毛纤维性能关联,并且2个位点均未偏离哈温平衡,这2个基因可能是高原型藏羊羊毛性状重要的候选基因.本研究发现有助于了解高原型藏羊羊毛性状的生产遗传基础,为该品种绵羊的分子育种技术提供参考,也为保护与利用地方优异种质遗传资源提供科学依据.
Abstract
The objective of this study was to identify novel molecular markers and candidate genes associated with wool traits in plateau Tibetan sheep through a combination of genome-wide selected region signal detection,single nucleotide polymorphism analysis,and trait association analysis.In this study,ear tissue and wool samples were collected from 208 healthy ewes aged 3-4 years old,including 119 plateau-type ewes and 89 Euler-type ewes.Population genetic differen-tiation index(Fst)and base diversity ratio(Pi Ratio)were employed for genome-wide selective clearance analysis.Candidate genes were identified through functional annotation,followed by GO and KEGG enrichment analyses.Furthermore,correlation analysis between single nucleotide polymorphisms and phenotypic data was conducted using exon Sanger sequencing on a subset of 108 Tibetan plateau sheep to identify functional loci related to wool traits.The results revealed that a total of 1 084 selected regions with annotations for 1 037 candidate genes.Through func-tional gene annotation and literature analysis,7 potential candidate genes related to wool traits were identified:GHR,FGFR3,MC1R,MITF,FGF5,WNT2B,and WNT5A.Notably,FGF5(exon6:c.954C/T:p227P/P)synonymous mutation site and FGFR3(exon6:c1092C/T:p364A/A)synonym mutation sites were found to be associated with wool fiber performance with-out deviation from Hardy-Weinberg equilibrium.These two genes may serve as important candi-date genes for the improvement of wool traits in plateau Tibetan sheep.This study provides valu-able insights into the genetic basis underlying the production of wool traits in plateau Tibetan sheep.It also offers guidance for molecular breeding techniques specific to this breed while provi-ding a scientific foundation for the conservation and utilization of local germplasm resources.
维普
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