水牛FASN基因外显子37多态性及其生物信息学分析  

Polymorphism and Bioinformatics Analysis of the Exon 37 within the FASN Gene in Buffalo

作　　者：江明星[1] 哈福[1] 付琳[1] 袁峰[1] 欧阳依娜[1] 张慧芳[2] 苗永旺[1] 

机构地区：[1]云南农业大学动物科学技术学院,云南昆明650201 [2]云南农业大学后勤集团,云南昆明650201

出　　处：《中国牛业科学》2014年第3期15-20,共6页China Cattle Science

基　　金：云南省应用基础研究重点项目(2007C0003Z);国家自然科学基金项目(30660024);云南省应用基础研究计划面上项目(2006C0034M)

摘　　要：[目的]脂肪酸合成酶(Fatty acid synthase,FASN)是影响哺乳动物脂肪酸合成的关键酶,但有关水牛FASN基因的群体遗传组成特征还不清楚。[方法]本研究采用PCR产物直接测序法和PCR-SSCP方法对88头河流型和122头沼泽型水牛、54头牦牛和40头大额牛FASN基因外显子37进行群体变异检测,并结合已发表的牛科物种序列进行生物信息学分析。[结果]结果表明,仅在水牛中发现2个SNP位点,为c.6363C>T和c.6372C>T,均为同义替换。河流型和沼泽型水牛共享这2个SNP位点,但它们在两类水牛中的群体遗传组成不同。确定水牛特有的核苷酸位点3个,即c.6183A,c.6255T和c.6394A,其中c.6394A导致水牛FASN蛋白第2132位氨基酸与其它牛科物种不同,在水牛中为M而其它牛科物种中为V;山羊特有的位点2个,为c.6189A和c.6267T。普通牛、山羊和绵羊中具有异义替换SNP位点,分别为1个、3个和7个。普通牛的异义替换SNP位点c.6365G>A对蛋白质功能影响不显著(subPSEC>-3);山羊的这些异义替换SNP位点c.6296T>C、c.6301C>T和c.6341T>C对其蛋白质功能影响均有显著影响(subPSEC<-3);绵羊7个异义替换SNP位点中的2个,即c.6286A>C和c.6406A>G对FASN功能有显著影响(subPSEC<-3)。[结论]这些核苷酸差异引起的氨基酸差异可能引起不同牛科物种间FASN功能的差异。[Objective]Fatty acid synthase （FASN） is a key enzyme in mammalian fatty acid synthesis, but population genetic characteristics of this gene in buffalo is still unclear. Therefore, the aim of this study was to test the polymorphism of this gene[Method]A total of 88 river buffalos, 122 swamp buffalos, 54 yaks and 40 gayals had been used to detect the polymorphisms of the exon 37 within the FASN gene using direct DNA sequencing and PCR-SSCP method. According to the published sequence of bovine species, the bioinformatic analysis was also performed. [Result] Only two single nucleotide polymorphisms （SNPs） were obtained in buffalo, namely, c. 6363C〉T and c. 6372C〉T,which were synonymous. These SNPs were shared with river buffalo and swamp buffalo, but it was different in their population genetic composi- tion of two types of buffalo. Herein,there were 3 specific nucleotide loci （c. 6183A,c. 6255T and c. 6394A） in buffalo and 2 specific nucleotide loci （e. 6189A and e. 6267T） in goat. The specific nueleotide locus c. 6394A caused the 2132nd amino acid of buffalo was different from other bovine species（ the amino acid was M in buffalo while V in other bovine species）. Moreover, 1,3 and 7 non-synonymous SNPs were respectively in cattle, goat and sheep. This non-synonymous SNP of cattle （c. 6365 G〉A） was predicted to have no significant effect on FASN function （subPSEC 〉 -3）. All the 3 non-synonymous SNPs （c. 6296 T 〉C,c. 6301 C〉T and c. 6341 T〉C） of goat were predicted to have significant effect on FASN function （subPSEC 〉 -3）,as well as two of the sheep non-synonymous SNPs （c. 6286 A〉C and c. 6406 A〉G） were predicted to have significant effect on FASN function （subPSEC 〉 -3）. [Conclusion]Amino acid differences caused by these nucleotide differences might lead to different function in FASN between different bovine species.

关 键 词：水牛 FASN基因 多态性 SNPS 比较基因组学分析 

分 类 号：S813[农业科学—畜牧学]