Polymorphisms of ACSL1 Gene Promoter and Their Association Analysis with Milk Quality Traits in Yak (Bos grunniens)
ZHAO Zhi-Dong1, TIAN Hong-Shan1, JIANG Yan-Yan1, SHI Bin-Gang1, LIU Xiu1, LI Xu-Peng1, WANG Deng-Zhe1, CHEN Jin-Lin2, HU Jiang1, *
1 College of Animal Science and Technology, Gansu Agricultural University/Gansu Key Laboratory of Herbivorous Animal Biotechnology, Lanzhou 730070 ,China; 2 Nagqu Prefecture Grassland Station, Tibet Autonomous Region, Nagqu 852100, China
Abstract:Long chain acyl-CoA synthetase 1 (ACSL1) plays a key role in the synthesis of triglycerides, phospholipids and cholesterol esters and the oxidation of fatty acids. The Bos grunniens milk has rich nutrition and higher milk fat. However, there are few studies on the genetic mechanism of milk quality traits. In this study, Gannan yak was used as the research object, and the polymorphic loci of the promoter region of yak ACSL1 gene were detected by DNA sequencing, and the association analysis were performed to evaluate the effects of different haplotypes combination and genotypes on milk quality traits. This study found that 3 SNPs in the promoter region of the ACSL1 gene in the Gannan yak population, which were g.2079A>T, g.2409G>A and g.1235_g1236delTG deletion. In the F1 region of the yak ACSL1 promoter, the animals with MN genotypes had significantly higher the milk protein rate than those with genotypes MN (P<0.05). The animals with BB genotypes had significantly higher total solid matter content and milk fat percentage than those with genotypes AA and AB (P<0.05). In the promoter F2 region, the animals with DD genotypes had significantly higher milk fat percentage than those with genotypes CC. 8 haplotypes and 5 diplotypes were constructed, in which the diplotype H4H4 had significantly higher (P<0.05) or extremely significantly higher milk fat content and total solid content than those with other doplotype (P<0.01). Therefore, the mutation in the promoter region of yak ACSL1 gene can be used as a potential genetic marker for the quality traits of Gannan yak milk which also provide theoretical basis for the molecular genetic research of yak milk quality traits.
赵志东, 田宏山, 蒋艳艳, 石斌刚, 刘秀, 李旭鹏, 王登哲, 陈金林, 胡江. 牦牛ACSL1基因启动子多态性及其与乳品质性状的关联分析[J]. 农业生物技术学报, 2019, 27(9): 1596-1603.
ZHAO Zhi-Dong, TIAN Hong-Shan, JIANG Yan-Yan, SHI Bin-Gang, LIU Xiu, LI Xu-Peng, WANG Deng-Zhe, CHEN Jin-Lin, HU Jiang. Polymorphisms of ACSL1 Gene Promoter and Their Association Analysis with Milk Quality Traits in Yak (Bos grunniens). 农业生物技术学报, 2019, 27(9): 1596-1603.
1 李庆岗, 陶著, 杨玉增, 等. 2012. 长链脂酰CoA合成酶(ACSL)的研究进展[J]. 中国畜牧兽医, 39(06): 137-140. (Li Q G, Tao Z, Yang Y Z, et al.2012. Research progress of long-chain fatty acyl-CoA synthetase (ACSL)[J]. China Animal Husbandry & Veterinary Medicine, 39(06): 137-140 .) 2 吴森, 桂林生, 昝林森. 2018. 南阳牛ATP5B基因启动子区域多态性与生长性状的关联性研究[J]. 农业生物技术学报, 26(9): 1535-1545. (Wu S, Gui L S, Zan L S.Correlation between polymorphisms of ATP5B gene promoter and growth traits in Nanyang cattle[J]. Journal of Agricultural Biotechnology, 26(9): 1535-1545.) 3 谢建鹏, 石斌刚, 胡江, 等. 2017. 牦牛DGAT2基因intron5和intron6多态性及其对乳品质性状的影响[J]. 农业生物技术学报, 25(5): 758-769. (Xie J P, Shi B G, Hu J, et al.2017. Polymorphisms of DGAT2 gene intron5 and intron6 and their effects on milk quality traits[J]. Journal of Agricultural Biotechnology, 25(5): 758-769.) 4 赵志东. 2016. 牛ACSL1基因的转录调控研究[D]. 博士学位论文, 西北农林科技大学, 导师: 昝林森. pp.1-2. ( Zhao Z D.2016. Transcriptional regulation study of the bovine ACSL1 gene [D]. Thesis for Ph.D., Northwest A & F University, Supervisor: Zan L S, pp. 1-2.) 5 扎西吉, 张红霞. 2015. 甘南牦牛生产性能调查[J]. 畜牧兽医杂志, 34(6): 57-59. (Zha X J, Zhang H X.2015. Investigation on the production performance of Gannan Yak[J]. Acta Veterinaria et Zootechnica Sinica, 34(6): 57-59.) 6 张容昶, 胡江. 2002. 牦牛生产技术[M]. 北京: 金盾出版社, pp. 185-188. (Zhang R W, Hu J.2002. Production Technology of Yak[M]. Jindun Press.Beijing, China, pp.185-188.) 7 Akey J M, Jin L, Xiong M, et al.2001. Haplotypes vs single marker linkage disequilibrium tests: What do we gain?[J]. European Journal of Human Genetics, 9(4): 291-300. 8 Bernard L, Rouel J, Leroux C, et al.2005. Mammary Lipid metabolism and milk fatty acid secretion in alpine goats fed vegetable lipids[J]. Journal of Dairy Science, 88(4): 1478-1489. 9 Bionaz M, Loor J J.2008a. ACSL1, AGPAT6, FABP3, LPIN1, and SLC27A6 are the most abundant isoforms in bovine mammary tissue and their expression is affected by stage of lactation[J]. Journal of Nutrition, 138(6): 1019-1024. 10 Bionaz M, Loor J J.2008b. Gene networks driving bovine milk fat synthesis during the lactation cycle[J]. BMC Genomics, 9(1): 366-366. 11 Coleman R A, Lewin T M, Van Horn C G, et al.2002. Do long-chain Acyl-CoA synthetases regulate fatty acid entry into synthetic versus degradative pathways?[J]. Journal of Nutrition, 132(8): 2123-2126. 12 Diaye A N, Haile J K, Cory A T, et al.2017. Single marker and haplotype-based association analysis of semolina and pasta colour in elite durum wheat breeding lines using a high-density consensus map[J]. PLOS ONE,12(1): e0170941. 13 Evans J M, Noorai R E, Tsai K L, et al.2017. Beyond the MHC: A canine model of dermatomyositis shows a complex pattern of genetic risk involving novel loci[J]. PLOS Genetics, 13(2): e1006604. 14 Ellis J M, Li L O, Wu P C, et al.2010. Adipose acyl-CoA synthetase-1 directs fatty acids toward beta-oxidation and is required for cold thermogenesis[J]. Cell Metabolism,12(1): 53-64. 15 Gui L, Hong J, Raza S H, et al.2017. Genetic variants in SIRT3 transcriptional regulatory region affect promoter activity and fat deposition in three cattle breeds[J]. Molecular and Cellular Probes, 32: 40-45. 16 Guo H, Raza S H, Schreurs N M, et al.2018. Genetic variants in the promoter region of the KLF3 gene associated with fat deposition in Qinchuan cattle[J]. Gene, 672: 50-55. 17 Harris C A, Haas J T, Streeper R S, et al.2011. DGAT enzymes are required for triacylglycerol synthesis and lipid droplets in adipocytes[J]. Journal of Lipid Research, 52(4): 657-667. 18 Li L O, Mashek D G, An J, et al.2006. Overexpression of rat long chain Acyl-CoA synthetase 1 alters fatty acid metabolism in rat primary hepatocytes[J]. Journal of Biological Chemistry, 281(48): 37246-37255. 19 Lee J N, Wang Y, Xu Y O, et al.2017. Characterisation of gene expression related to milk fat synthesis in the mammary tissue of lactating yaks[J]. Journal of Dairy Research, 84(03): 283-288. 20 Lian S, Guo J R, Nan X M, et al.2016. Bta-miR-181a regulates the biosynthesis of bovine milk fat by targeting ACSL1[J]. Journal of Dairy Science, 99(5): 3916-3924. 21 Loor J J, Ferlay A, Ollier A, et al.2005. High-concentrate diets and polyunsaturated oils alter trans and conjugated isomers in bovine rumen, blood, and milk[J]. Journal of Dairy Science, 88(11): 3986-3999. 22 Mashek D G, Mckenzie M A, Van Horn C G, et al.2006. Rat long chain acyl-CoA synthetase 5 increases fatty acid uptake and partitioning to cellular triacylglycerol in McArdle-RH7777 cells[J]. Journal of Biological Chemistry, 281(2): 945-950. 23 Mercadé A, Estellé J, PérezEnciso M, et al.2010. Characterization of the porcine acyl-CoA synthetase long-chain 4 gene and its association with growth and meat quality traits.[J]. Animal Genetics, 37(3): 219-224. 24 Morris R W, Kaplan N L.2002. On the advantage of haplotype analysis in the presence of multiple disease susceptibility alleles[J]. Genetic Epidemiology, 23(3): 221-233. 25 Mukherjee R, Yun J W.2012. Long chain acyl CoA synthetase 1 and gelsolin are oppositely regulated in adipogenesis and lipogenesis[J]. Biochemical and Biophysical Research Communications, 420(3): 588-593. 26 Mercade A, Estelle J, Perezenciso M, et al.2006. Characterization of the porcine acyl-CoA synthetase long-chain 4 gene and its association with growth and meat quality traits[J]. Animal Genetics, 37(3): 219-224. 27 Parkes H A, Preston E, Wilks D, et al.2006. Overexpression of acyl-CoA synthetase-1 increases lipid deposition in hepatic (HepG2) cells and rodent liver in vivo[J]. American Journal of Physiology-endocrinology and Metabolism, 291(4): e737-44 28 Pastinen T, Hudson T J.2004. Cis-acting regulatory variation in the human genome[J]. Science, 306(5696): 647-650. 29 Soupene E, Fyrst H, Kuypers F A, et al.2008. Mammalian acyl-CoA:Lysophosphatidylcholine acyltransferase enzymes[J]. Proceedings of the National Academy of Sciences of the USA, 105(1): 88-93. 30 Smith S, Witkowski A, Joshi A K, et al.2003. Structural and functional organization of the animal fatty acid synthase[J]. Progress in Lipid Research, 42(4): 289-317. 31 Sandefur P, Frett T J, Clark J R, et al.2017. A DNA test for routine prediction in breeding of peach blush, Ppe-Rf-SSR[J]. Molecular Breeding, 37(1): 11 32 Widmann P, Nuernberg K, Kuehn C, et al.2011. Association of an ACSL1 gene variant with polyunsaturated fatty acids in bovine skeletal muscle[J]. BMC Genetics, 12(1): 96-96. 33 Wei D, Gui L, Raza S H, et al.2017. NRF1 and ZSCAN10 bind to the promoter region of the SIX1 gene and their effects body measurements in Qinchuan cattle[J]. Scientific Reports, 7(1): 7867. 34 Wu S, Wang Y, Ning Y, et al.2018. Genetic variants in stat3 promoter regions and their application in molecular breeding for body size traits in Qinchuan cattle[J]. International Journal of Molecular Sciences, 19(4): 1035-1037. 35 Xu H, Luo J, Zhao W S, et al.2016. Overexpression of SREBP1 (sterol regulatory element binding protein 1) promotes de novo fatty acid synthesis and triacylglycerol accumulation in goat mammary epithelial cells[J]. Journal of Dairy Science, 99(1): 783-795. 36 Yan L S, Hong L Z, Fang H D.2014. Research progress on eukaryotic promoter[J]. Current Biotechnology, 14(1): 1-7. 37 Yan G, Li B, Xin X, et al.2015. MicroRNA-34a promotes hepatic stellate cell activation via targeting ACSL1[J]. Medical Science Monitor, 21: 3008-3015. 38 Zhang J, Zhang Y, Gong H, et al.2017. Genetic mapping using 1.4 M SNP array refined loci for fatty acid composition traits in Chinese Erhualian and Bamaxiang pigs[J]. Journal of Animal Breeding and Genetics, 134(6): 472-483. 39 Zhao Z, Zan L, Li A, et al.2016. Characterization of the promoter region of the bovine long-chain acyl-CoA synthetase 1 gene: Roles of E2F1, Sp1, KLF15, and E2F4[J]. Scientific Reports, 2016, 6(1): 19661-19661. 40 Zhou H, Hickford J G H, Fang Q.2006. A two-step procedure for extracting genomic DNA from dried blood spots on filter paper for polymerase chain reaction amplification[J]. Analytical Biochemistry, 354(1): 159-161.