猪esr基因反转录转座子插入多态性及其与大白猪生产性能的关联性分析

Retrotransposon insertion polymorphism of the porcine esr gene and its association with production performances of Large White pigs

雌激素受体(Estrogen receptor,esr)介导雌激素影响相关基因表达,从而调控哺乳动物的生长和繁殖机能。为了探讨esr基因的反转录转座子多态性对猪生长性能的影响,文中应用比较基因组学和生物信息学方法,预测猪esr基因的反转录转座子插入位点,采用PCR方法验证不同品种猪中插入多态性,并将该基因型与大白猪性能进行关联分析。结果显示,esr1和esr2基因验证后得到4个反转录转座子多态性位点,分别是位于esr1基因内含子2的esr1-SINE-RIP1、位于内含子5的esr1-LINE-RIP2和esr1-SINE-RIP3,以及位于esr2基因内含子1的esr2-LINE-RIP。其中esr1-SINE-RIP1的287 bp SINE插入对大白猪的活体背膘厚和100 kg体重背膘厚有显著影响(P<0.05),纯合有插入(SINE^(+/+))的活体背膘厚和100kg体重背膘厚显著高于杂合有插入(SINE^(+/-))和无插入(SINE^(-/-))型。这表明esr1-SINE-RIP1位点可作为分子标记辅助选育大白猪的背膘厚性状。

Estrogen receptor(esr)mediates the effects of estrogen on the expression of related genes,thereby regulating the growth and reproduction of mammals.To investigate the effect of retrotransposon insertion polymorphism(RIP)of the porcine esr gene on porcine growth performance,retrotransposon insertion polymorphism of the esr gene were predicted by comparative genomics and bioinformatics,and PCR was used to verify the insertion polymorphisms in different porcine breeds.Finally,the correlation analysis between the genotypes and performance of Large White pigs was conducted.The results showed that four retrotransposon polymorphic sites were identified in the esr1 and esr2 genes,which are esr1-SINERIP1 located in intron 2 of the esr1 gene,esr1-LINE-RIP2 and RIP3-esr1-SINE located in intron 5 of the gene,and esr2-LINE-RIP located in intron 1 of the esr2 gene,respectively.Among them,insertion of a 287 bp of SINE into intron 2 of the esr1 gene significantly affected(P<0.05)the live back fat thickness and 100 kg body weight back fat thickness of Large White pigs.Moreover,the live back fat thickness and back fat thickness at 100 kg body weight of homozygous with insertion(SINE^(+/+))was significantly greater than that of heterozygous with insertion(SINE^(+/-))and homozygous without insertion(SINE^(-/-)).Therefore,esr1-SINE-RIP1 could be used as a molecular marker to assist the selection of deposition traits in Large White pigs.