超长链脂肪酸延长酶(Elongation of Very Long Chain Fatty Acids,ELOVLs)是合成脂肪酸过程中的关键酶,与脂类的合成以及脂肪酸的代谢密切相关。本实验旨在研究碱地黑牛ELOVL2、ELOVL5基因CDS区序列及其在机体各组织中的表达情况,探讨EL...超长链脂肪酸延长酶(Elongation of Very Long Chain Fatty Acids,ELOVLs)是合成脂肪酸过程中的关键酶,与脂类的合成以及脂肪酸的代谢密切相关。本实验旨在研究碱地黑牛ELOVL2、ELOVL5基因CDS区序列及其在机体各组织中的表达情况,探讨ELOVL2、ELOVL5基因理化性质及表达规律。通过克隆获得的碱地黑牛ELOVL2和ELOVL5基因CDS区分别为885、900 bp,编码294、299个氨基酸,均为疏水性蛋白;进化树显示碱地黑牛ELOVL2、ELOVL5基因与牛、山羊、绵羊同源性最高。α-螺旋和无规则卷曲是主要的二级结构,对二者三级结构及氨基酸序列进行对比,发现ELOVL2氨基酸序列中第234位的半胱氨酸等同于ELOVL5中第231位的色氨酸,ELOVL2 C234和ELOVL5等效位置的W231对底物结合的特异性有影响,若将ELOVL5 W231替换到ELOVL2中的等效位置,ELOVL2将DPA转化为24:5n-3的能力丧失。亚细胞定位结果显示ELOVL2、ELOVL5蛋白主要定位在内质网上,荧光定量PCR实验结果显示二者均在肝脏中表达量最高。综上,ELOVL2、ELOVL5基因在促进脂肪酸合成过程中发挥着重要的作用。展开更多
The present study was designed to examine the contributions of the fatty acid elongase (ELOVL) gene polymorphisms to the levels of polyunsaturated fatty acids (PUFAs) in breast milk. Two hundred and nine healthy H...The present study was designed to examine the contributions of the fatty acid elongase (ELOVL) gene polymorphisms to the levels of polyunsaturated fatty acids (PUFAs) in breast milk. Two hundred and nine healthy Han Chinese mothers were included in the study. Carriers of minor alleles of SNPs (rs2397142 and rs9357760) in ELOVL5 were associated with higher levels of linoleic acid (LA), dihomo-γ-linolenic acid (DGLA), arachidonic acid (AA), docosatetraenoic acid (DTA), docosahexenoic acid (DHA), while in rs209512 of ELOVL5 the carriers of minor alleles had lower levels of DTA compared to major homozygote alleles (P ranged from 0.004-0.046), and genetically explained variability ranged from 3.2% for eicosapentaenoic acid (EPA) to 6.0% for LA. Our findings demonstrated that common variation in ELOVL5 gene encoding rate-limiting enzymes in the metabolism of PUFAs contribute to the PUFAs in breast milk.展开更多
文摘超长链脂肪酸延长酶(Elongation of Very Long Chain Fatty Acids,ELOVLs)是合成脂肪酸过程中的关键酶,与脂类的合成以及脂肪酸的代谢密切相关。本实验旨在研究碱地黑牛ELOVL2、ELOVL5基因CDS区序列及其在机体各组织中的表达情况,探讨ELOVL2、ELOVL5基因理化性质及表达规律。通过克隆获得的碱地黑牛ELOVL2和ELOVL5基因CDS区分别为885、900 bp,编码294、299个氨基酸,均为疏水性蛋白;进化树显示碱地黑牛ELOVL2、ELOVL5基因与牛、山羊、绵羊同源性最高。α-螺旋和无规则卷曲是主要的二级结构,对二者三级结构及氨基酸序列进行对比,发现ELOVL2氨基酸序列中第234位的半胱氨酸等同于ELOVL5中第231位的色氨酸,ELOVL2 C234和ELOVL5等效位置的W231对底物结合的特异性有影响,若将ELOVL5 W231替换到ELOVL2中的等效位置,ELOVL2将DPA转化为24:5n-3的能力丧失。亚细胞定位结果显示ELOVL2、ELOVL5蛋白主要定位在内质网上,荧光定量PCR实验结果显示二者均在肝脏中表达量最高。综上,ELOVL2、ELOVL5基因在促进脂肪酸合成过程中发挥着重要的作用。
基金supported by the National Natural Science Foundation of China(No.81102115)2012 Chinese Nutrition Society(CNS)Nutrition Research Foundation-DSM Research Fund
文摘The present study was designed to examine the contributions of the fatty acid elongase (ELOVL) gene polymorphisms to the levels of polyunsaturated fatty acids (PUFAs) in breast milk. Two hundred and nine healthy Han Chinese mothers were included in the study. Carriers of minor alleles of SNPs (rs2397142 and rs9357760) in ELOVL5 were associated with higher levels of linoleic acid (LA), dihomo-γ-linolenic acid (DGLA), arachidonic acid (AA), docosatetraenoic acid (DTA), docosahexenoic acid (DHA), while in rs209512 of ELOVL5 the carriers of minor alleles had lower levels of DTA compared to major homozygote alleles (P ranged from 0.004-0.046), and genetically explained variability ranged from 3.2% for eicosapentaenoic acid (EPA) to 6.0% for LA. Our findings demonstrated that common variation in ELOVL5 gene encoding rate-limiting enzymes in the metabolism of PUFAs contribute to the PUFAs in breast milk.