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Genetic polymorphisms at candidate genes affecting fat content and fatty acid composition in Modicana cows: effects on milk production traits in different feeding systems

  • B. Valenti (a1), A. Criscione (a1), V. Moltisanti (a1), S. Bordonaro (a1), A. De Angelis (a1), D. Marletta (a1), F. Di Paola (a1) and M. Avondo (a1)...


Feeding greatly affects milk yield and composition. The research is highlighting the potential of genetic polymorphism at some loci to affect milk yield and quality traits. These loci can be up/down regulated depending on the production environment; therefore, we hypothesized that milk yield and composition could differ when cows with different genotype at SCD, DGAT1 and ABCG2 loci are reared in different feeding systems. The polymorphisms of SCD, DGAT1 and ABCG2 genes were investigated in Modicana breed. In all, three polymorphic sites, responsible for the genetic variation of quantitative trait loci and therefore defined quantitative trait nucleotides, were genotyped: the transition g.10329C>T in 5th exon determines a substitution p.A293V in the SCD, the dinucleotide mutation g.10433-10434AA>GC in 8th exon responsible for p.K232A substitution in the DGAT1 and the transition g.62569A>C in the 14th exon responsible for p.Y581S substitution in the ABCG2 gene. In the sample of 165 Modicana cows, SCD and DGAT1 genes resulted polymorphic; the alleles g.10329T and g.10433-10434GC were the most frequent in SCD and DGAT1 (0.73 and 0.91) respectively, whereas ABCG2 locus was monomorphic for allele A (p.581Y). Sequencing analysis was carried out on 14 samples with different genotypes to confirm the results of the PCR-RFLP protocols. Based on the genotypes at SCD locus, 47 Modicana cows were selected for the nutritional trial: 24 cows in a semi-intensive farm, with 2 h/day grazing on natural pasture, and 23 cows in an extensive farm, with 8 h/day grazing on natural pasture. Monthly, milk yield and composition were evaluated and individual milk samples were analyzed for fatty acids composition by gas chromatography. No differences in milk yield, fat, protein, lactose, casein and urea were associated to SCD genotype. Feeding systems affected milk yield and composition. No significant genotype×feeding system interaction was observed for milk yield and composition. Fatty acids composition was significantly affected only by the feeding system. Significant interactions were found between SCD genotype and feeding system for six fatty acids: 4:0, 6:0, 8:0, 10:0, 12:0 and t11 18:1. We concluded that the feeding system was the factor that mostly affected milk production and composition; moreover, our results do not confirm what reported in literature as regard the effect of the SCD polymorphism on milk fatty acid composition. The high amount of pasture seemed to have resized the SCD polymorphism effects because of the different fatty acids composition of the diet.


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Ates, A, Hosturk, GT, Akis, I, Gursel, FE, Yardibi, H and Öztabak, K 2014. Genotype and allele frequencies of polymorphisms in ABCG2, PPARGC1A and OLR1 genes in indigenous cattle breeds Turkey. Acta Veterinaria 64, 7380.
Carvajal, AM, Huircan, P, Dezamour, JM, Subiabre, I, Kerr, B, Morales, R and Ungerfeld, EM 2016. Milk fatty acid profile is modulated by DGAT1 and SCD1 genotypes in dairy cattle on pasture and strategic supplementation. Genetics and Molecular Research 15, 15027057.
Cecchinato, A, Ribeca, C, Maurmayr, A, Penasa, M, De Marchi, M, Macciotta, NP, Mele, M, Secchiari, P, Pagnacco, G and Bittante, G 2012. Short communication: effects of β-lactoglobulin, stearoyl-coenzyme Adesaturase 1, and sterol regulatory element binding protein gene allelic variants on milk production, composition, acidity, and coagulation properties of Brown Swiss cows. Journal of Dairy Science 95, 450454.
Ceriotti, G, Marletta, D, Caroli, A and Erhardt, G 2004. Milk protein loci polymorphism in taurine (Bos taurus) and zebu (Bos indicus) populations bred in hot climate. Journal of Animal Breeding and Genetics 121, 404415.
Chilliard, Y, Glasser, F, Ferlay, A, Bernard, L, Rouel, J and Doreau, M 2007. Diet, rumen biohydrogenation and nutritional quality of cow and goat milk fat. European Journal of Lipid Science and Technology 109, 828855.
Christie, WW 1982. A simple procedure for rapid transmethylation of glycerolipids and cholesteryl esters. Journal of Lipids Research 23, 10721075.
Cohen-Zinder, M, Seroussi, E, Larkin, DM, Loor, JJ, Evertsvan der Wind, A, Lee, JH, Drackley, JK, Band, MR, Hernandez, AG, Shani, M, Lewin, HA, Weller, JI and Ron, M 2005. Identification of a missense mutation in the bovine ABCG2 gene with a major effect on the QTL on chromosome 6 affecting milk yield and composition in Holstein cattle. Genome Research 15, 936944.
Conte, G, Mele, M, Chessa, S, Castiglioni, B, Serra, A, Pagnacco, G and Secchiari, P 2010. Diacylglycerol acyltransferase 1, stearoyl-CoA desaturase 1, and sterol regulatory element binding protein 1 gene polymorphisms and milk fatty acid composition in Italian Brown cattle. Journal of Dairy Science 93, 753763.
Cozma, A, Martin, B, Ciri, C, Verdier-Metz, I, Agabriel, J and Ferlay, A 2017. Influence of the calf presence during milking on dairy performance, milk fatty acid composition, lipolysis and cheese composition in Salers cows during winter and grazing seasons. Journal of Animal Physiology and Animal Nutrition 101, 949963.
Duchemin, S, Bovenhuis, H, Stoop, WM, Bouwman, AC, van Arendonk, JAM and Visker, MH 2013. Genetic correlation between composition of bovine milk fat in winter and summer, and DGAT1 and SCD1 by season interactions. Journal of Dairy Science 96, 592604.
Elgersma, A 2015. Grazing increases the unsaturated fatty acid concentration of milk from grass-fed cows: a review of the contributing factors, challenges and future perspectives. European Journal of Lipid Science and Technology 117, 13451369.
Feng, S, Salter, AM, Parr, T and Garnsworthy, PC 2007. Extraction and Quantitative Analysis of Stearoyl-Coenzyme A Desaturase mRNA from Dairy Cow Milk Somatic Cells. Journal of Dairy Science 90, 41284136.
Garnsworthy, PC, Feng, S, Lock, AL and Royal, MD 2010. Short communication: heritability of milk fatty acid composition and stearoyl-CoA desaturase indices in dairy cows. Journal of Dairy Science 93, 17431748.
Gautier, M, Capitan, A, Fritz, S, Eggen, A, Boichard, D and Druet, T 2007. Characterization of the DGAT-1 K232A and variable number of tandem repeat polymorphism in French dairy cattle. Journal of Dairy Science 90, 29802988.
Grisart, B, Coppieters, W, Farnir, F, Karim, L, Ford, C, Berzi, P, Cambisano, N, Mni, M, Reid, S, Simon, P, Spelman, R, Georges, M and Snell, R 2002. Positional candidate cloning of a QTL in dairy cattle: identification of a missense mutation in the bovine DGAT1 gene with major effect on milk yield and composition. Genome Research 12, 222231.
Guastella, AM, Sorbolini, S, Zuccaro, A, Pintus, E, Bordonaro, S, Marletta, D and Macciotta, NPP 2011. Melanocortin 1 receptor (MC1R) gene polymorphisms in three Italian cattle breeds. Animal Production Science 51, 10391043.
Juhlin, J, Fikse, WF, Pickova, J and Lunden, A 2012. Association of DGAT1 genotype, fatty acid composition, and concentration of copper in milk with spontaneous oxidized flavour. Journal of Dairy Science 95, 46104617.
Kaupe, B, Winter, A, Fries, R and Erhardt, G 2004. DGAT1 polymorphism in Bos indicus and Bos taurus cattle breeds. Journal of Dairy Research 71, 182187.
Kelsey, JA, Corl, BA, Collier, RJ and Bauman, DE 2003. The effect of breed, parity, and stage of lactation on conjugated linoleic acid (CLA) in milk fat from dairy cows. Journal of Dairy Science 86, 25882597.
Komisarek, J and Dorynek, Z 2009. Effect of ABCG2, PPARGC1A, OLR1 and SCD1 gene polymorphism on estimated breeding values for functional and production traits in Polish Holstein-Friesian bulls. Journal of Applied Genetics 50, 125132.
Komisarek, J, Michalak, A and Walendowska, A 2011. The effects of polymorphisms in DGAT1, GH and GHR genes on reproduction and production traits in Jersey cows. Animal Science Papers Reports 29, 2936.
Kgwatalala, PM, Ibeagha-Awemu, EM, Mustafa, AF and Zhao, X 2009. Influence of stearoyl-coenzyme A desaturase 1 genotype and stage of lactation on fatty acid composition of Canadian Jersey cows. Journal of Dairy Science 92, 12201228.
Lillehammer, M, Hayes, BJ, Meuwissen, TH and Goddard, ME 2009. Gene by environment interactions for production traits in Australian dairy cattle. Journal of Dairy Science 92, 40084017.
Luna, P, Juàrez, M and De La Fuenta, MA 2005. Validation of a rapid milk fat separation method to determine the fatty acid profile by gas chromatography. Journal of Dairy Science 88, 33773381.
Macciotta, NP, Mele, M, Conte, G, Serra, A, Cassandro, M, Dal Zotto, R, Cappio Borlino, A, Pagnacco, G and Secchiari, P 2008. Association between a polymorphism at the stearoyl coa desaturase locus and milk production traits in italian holsteins. Journal of Dairy Science 91, 31843189.
Marchitelli, C, Contarini, G, De Matteis, G, Crisà, A, Pariset, L, Scatà, MC, Catillo, G, Napolitano, F and Moioli, B 2013. Milk fatty acid variability: effect of some candidate genes involved in lipid synthesis. Journal of Dairy Research 80, 165173.
McDowell, LR 1996. Feeding mineral to cattle on pasture. Animal Feed Science and Tecnology 60, 247271.
Milanesi, E, Nicoloso, L and Crepaldi, P 2008. Stearoyl CoA desaturase (SCD) gene polymorphisms in Italian cattle breeds. Journal of Animal Breeding and Genetics 125, 6367.
Moioli, B, Contarini, G, Avalli, A, Catillo, G, Orrù, L, De Matteis, G, Masoero, G and Napolitano, F 2007. Effect of stearoyl-coenzyme A desaturase polymorphism on fatty acid composition of milk. Journal of Dairy Science 90, 35533558.
Mousavizadeh, SA, Salehi, A, Aminafshar, M, Sayyadnejad, M and Nazemshirazi, MH 2013. Novel SNPs of the ABCG2 gene and their associations with milk production traits in Iranian Holstein bulls. Journal of Agricultural Science and Technology 15, 11451151.
Näslund, J, Fikse, WF, Pielberg, GR and Lundén, A 2008. Frequency and effect of the bovine acyl-CoA: diacylglycerol acyl transferase 1 (DGAT1) K232A polymorphism in Swedish dairy cattle. Journal of Dairy Science 91, 21272134.
Ogorevc, J, Kunej, T, Razpet, A and Dovc, P 2009. Database of cattle candidate genes and genetic markers for milk production and mastitis. Animal Genetics 40, 832851.
Pegolo, S, Cecchinato, A, Mele, M, Conte, G, Schiavon, S and Bittante, G 2016. Effects of candidate gene polymorphisms on the detailed fatty acids profile determined by gas chromatography in bovine milk. Journal of Dairy Science 99, 45584573.
Scotti, E, Fontanesi, L, Schiavini, F, La Mattina, V, Bagnato, A and Russo, V 2010. DGAT1 p.K232A polymorphism in dairy and dual purpose Italian cattle breeds. Italian Journal of Animal Science 9, 7982.
Sharma, A, Tiwari, M, Pal Singh, S, Sharma, D, Kumar, S, Sharma, A and Verma, AK 2016. Study of ABCG2 gene polymorphism in Sahiwal and Hariana Cattle by PstI/PCR-RFLP assay. Journal of Animal Research 6, 475477.
Schennink, A, Heck, JM, Bovenhuis, H, Visker, MH, van Valenberg, HJ and van Arendonk, JA 2008. Milk unsaturation: genetic parameters and effects of stearoyl-CoA desaturase (SCD1) and acyl CoA: diacylglycerol acyltransferase 1 (DGAT1). Journal of Dairy Science 91, 21352143.
Taniguchi, M, Utsugi, T, Oyama, K, Mannen, H, Kobayashi, M, Tanabe, Y, Ogino, A and Tsuji, S 2004. Genotype of stearoyl-coA desaturase is associated with fatty acid composition in Japanese Black cattle. Mammalian Genome 15, 142148.
Thompson, J, Higgins, D and Gibson, T 1994. Clustal W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position – specific gap penalties and weight matrix choice. Nucleic Acids Research 22, 46734680.
Vlaeminck, B, Fievez, V, Cabrita, ARJ, Fonseca, AJM and Dewhurst, RJ 2006. Factors affecting odd- and branched-chain fatty acids in milk: a review. Animal Feed Science and Technology 131, 389417.


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Genetic polymorphisms at candidate genes affecting fat content and fatty acid composition in Modicana cows: effects on milk production traits in different feeding systems

  • B. Valenti (a1), A. Criscione (a1), V. Moltisanti (a1), S. Bordonaro (a1), A. De Angelis (a1), D. Marletta (a1), F. Di Paola (a1) and M. Avondo (a1)...


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