CSN1S1 Gene: Allele Frequency, and the Relationship with Milk Production Traits in Three Indigenous Cattle Breeds and Holstein

Document Type: Research Article


1 Department of Animal Science, Higher Educational Complex of Jihad-e-Agriculture, Kalantari Highway, Mashhad, Iran

2 Institute of Animal Breeding and Genetics, Justus Liebig, University, 35390, Giessen, Germany

3 Department for Crop and Animal Science, Faculty of Agriculture and Horticulture, Humboldt University Berlin, 10115, Berlin, Germany

4 Department of Animal Science, Faculty of Agricultural Science, University of Tehran, Karaj, Iran


CSN1S1is one of the major genes encoding milk proteins of mammals. In this study we determined allele frequencies of CSN1S1-5` flanking region as well as exon 17 variants and their effects on milk traits in three indigenous cattle breeds Mazandarani, Golpaygani (Bos indicus) and Sarabi (Bos taurus) and Holstein cattle in Iran. CSN1S1*B variant was nearly fixed in Holstein but ranged from 0.40 to 0.66 in indigenous breeds. CSN1S1*C allele had higher frequency inindigenous breeds, especially inBos indicus. Four genetic variants of the promoter were found in all breeds in different frequencies with allele 2 being the prevalent in all breeds (frequency 0.359 to 0.711) and allele 4 the least frequent (0.074 to 0.011). Allele B of the coding region was found in combination with all four promoter alleles. Allele 4 of the promoter was not found in any cow having the exon 17 allele C in all breeds except Mazandarani. BC / 23 genotype yielded the highest fat percentage (P<0.05) in Holstein but it had no significant effect in Golpaygani. There was not any homozygous CSN1S1*CC cow, to investigate the influence of C variant for fat content. None of the genetic combinations had significant effect on fat yield, although variant '2' of promoter indicated a negative effect. No significant effect among various combined genotypes on milk yield was found, but CSN1S1*B tended to higher milk production. Differences of allelic frequencies and milk production traits found among these breeds might be due to differences in origin of breeds or selection breeding programs.


Caroli A., Chessa S., Bolla P. and Gandini G.C. (2004). Genetic structure of milk polymorphisms and effects on milk production traits in a local dairy cattle. J. Anim. Genet. 121, 119-127.
Caroli A., Chessa S., Chatti F., Rignanese D., Melendez B., Rizzi R. and Ceriotti G. (2008). Short communication: carora cattle show high variability in αS1-casein. J. Dairy Sci. 91, 354-359.
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. J. Anim. Genet. 121, 404-415.
Eigel W.N., Rutler J.E., Ernstrom C.A., Farrell J.R.H.M., Harwalker V.R., Jenness R. and Whitney R.M. (1984). Nomenclature of protein of cow’s milk: fifth revision. J. Dairy Sci. 67, 1599-1631.
Erhardt G. (1993). A new αs1-casein allele in bovine milk and its occurrence in different breeds. Anim. Genet. 24, 65-66.
Farrell H.M., Jimenez Flores Jr., Bleck R., Brown G.T., Butler E.M. and Creamer L.K., Hicks C.L.,Hollar C.M., Ng-Kwai-Hang K.F. and Swaisgood H.E. (2004). Nomenclature of the Proteins of Cows' Milk-Sixth revision. J. Dairy Sci. 87(6), 1641-1674.
Formaggioni P., Summer A., Malacarne M. and Mariani P. (1999). Milk protein polymorphism: Detection and diffusion of the genetic variants in Bos genus. Ann. Fac. Med. Vet. Univ. Parma. 19, 127-165.
Koczan D., Hobom G. and Seyfert H.M. (1991). Genomic organization of the bovine alpha-S1 casein gene. Nucl. Acid. Res. 19 (20), 5591-5596.
Lien S., Kantanen J., Olsaker I., Holm L.E., Eythorsdottir E., Sandberg K., Dalsgard B. and Adalsteinsson S. (1999). Comparision of milk protein allele frequencies in Nordic cattle breeds. Anim. Genet. 30, 85-91.
Lin C.Y., Mc Allister A.J., Ng Kwai Hang K.F. and Hayes J.F. (1986). Effects of milk protein loci on first lactation production in dairy cattle. J. Dairy Sci. 69, 704-712.
Lunden A., Nilsson M. and Janson L. (1997). Marked effect of β-lactoglobulin polymorphism on the ration of casein to total protein in milk. J. Dairy Sci. 80, 2996-3005.
Miller S.A., Dykes D.D. and Polesky H.F. (1988). A simple salting out procedure for extracting DNA from human nucleated cells. Nucl. Acid. Res. 16(3), 1215-219.
Ng Kwai Hang K.F. (1998). Genetic polymorphism of milk protein: relationships with production traits, milk composition and technological properties. Can. J. Anim. Sci. 78, 131-147.
Prinzenberg E.M., Weimann C., Brandt H., Bennewitz J., Kalm E., Schwerin M. and Erhardt G. (2003). Polymorphism of the bovine CSN1S1 promoter: linkage mapping, intragenic haplotypes, and effects on milk production traits. J. Dairy Sci. 86, 2696- 2705.
Prinzenberg E.M., Brandt H., Bennewitz J., Kalm E. and Erhardt G. (2005). Allele frequencies for SNPs in the αS1-casein (CSN1S1) 5` flanking region in European cattle and association with economic traits in German Holstein. Livest. prod. Sci. 98, 155-160.
Rando A., Gregorio P.D., Raumunno L., Mariani P., Fiorella A., Senese C., Marletta D. and Masina P. (1998). Characterization of the CSN1S1G allele of the bovine αs1-casein locus by the insertion of a relict of a long interspersed element. J. Dairy Sci. 81, 1735-1742.
Sanders K., Bennewitz J., Reinsch J., Thaller G., Prinzenberg E.M., Kuehn C. and Kalm E. (2006). Characterization of the DGAT1mutations and the CSN1S1 promoter in the German Angeln dairy cattle population. J. Dairy Sci. 89, 3164-3174.