摘要
[目的]MC1R和Agouti基因作为动物毛色主要候选基因,在调控黑色素的合成、参与毛色形成过程中起关键作用。研究绵羊MC1R和Agouti基因单核苷酸多态性,旨在探究MC1R和Agouti基因单核苷酸多态性与绵羊毛色的关系。[方法]随机采集特定杂交模式群体中黑色和白色绵羊的颈静脉血样各30份,提取DNA,并用PCR技术扩增MC1R和Agouti基因cDNA序列,测序获得目的片段碱基序列,比对后筛选分析MC1R和Agouti基因编码区SNPs位点,用SHEsis在线软件对单碱基突变位点连锁不平衡和单倍型分析。[结果]结果表明,受试群体中检测到的MC1R基因中有5个碱基突变位点,其中3个同义突变,2个错义突变;Agouti基因中检测到外显子4上有2个碱基突变位点,其中1个同义突变,1个错义突变。关联分析表明,Agouti基因中的2个突变位点及MC1R基因中的2个错义突变与被毛表型不相关(P>0.05),MC1R基因中的3个同义突变位点与毛色性状显著相关(P<0.05)。连锁不平衡发现,MC1R基因5个突变位点之间的连锁程度较强,单倍型分析表明,该群体中有8种单倍型组合,其中TGTGT和TGCTT与毛色显著相关(P<0.05)。[结论]Agouti基因外显子的单核苷酸突变多态性与其被毛不相关,MC1R基因3个同义突变位点和2个单倍型组合与毛色性状相关。
[Objective]MC1R and Agouti genes,the main candidate genes for animal coat color,play a key role in regulating the synthesis of melanin and participating in the process of coat color formation.Present study was aimed to investigate the single nucleotide polymorphisms of MC1R and Agouti genes in sheep,and to explore the relationship between MC1R and Agouti single nucleotide polymorphisms and sheep coat color.[Methods]Thirty of each white or black color sheep were randomly selected from a specific hybridization model population.The whole coding domain sequence(CDS)of MC1R and Agouti gene from jugular vein blood samples of selected sheep were amplified by PCR technology.The sequences of target fragments were obtained.After the comparison,the SNPs in the coding regions of MC1R and agouti genes were screened and analyzed.The linkage disequilibrium and haplotypes analysis of single base mutation sites were performed with SHEsis online software.[Results]The results showed that five base mutation sites in MC1R gene were detected in the test population,including three synonymous mutations and two missense mutations.Two base mutation sites were detected in exon four of Agouti gene,including one synonymous mutation and one missense mutation.Correlation analysis indicated that two mutation sites in Agouti gene and two missense mutations in MC1R gene were not related with coat phenotype(P>0.05),and three synonymous mutations in MC1R gene were significantly related with coat color traits(P<0.05).Linkage disequilibrium analysis found that the power of linkage between the five mutation sites of the MC1R gene was strong.Haplotype analysis results indicated that there were eight haplotype combinations in this population,of which TGTGT and TGCTT were significantly correlated with coat color(P<0.05).[Conclusion]The results showed that the single nucleotide mutation polymorphism in the exon of Agouti gene was not related to coat color,while three synonymous mutation sites and two haplotypes of MC1R gene were related to coat color.
作者
薛丽娜
罗惠娣
周胜花
毛杨毅
Xue Lina;Luo Huidi;Zhou shenghua;Mao Yangyi(ChinaCollege of Animal Science,Shanxi Agricultural University,Taigu 030801,China)
出处
《山西农业大学学报（自然科学版）》
CAS
北大核心
2020年第6期101-107,共7页
Journal of Shanxi Agricultural University(Natural Science Edition)
基金
国家绒毛用羊产业技术体系建设专项基金(CARS-39-24)
山西省科技创新团队基金(201705D131028-20)
山西省农科院农业产业发展科技引领工程项目(2019CYYL-12)
山西省重点研发计划项目(201903D221003)。
