[en] A quantitative trait locus (QTL) underlying different milk production traits has been identified with a high significance threshold value in the genomic region containing the acylCoA:diacylglycerol acyltransferase (DGAT1) gene, in the 3 main French dairy cattle breeds: French Holstein, Normande, and Montbeliarde. Previous studies have confirmed that the K232A polymorphism in DGAT1 is responsible for a major QTL underlying several milk production traits in Holstein dairy cattle and several other bovine breeds. In this study, we estimate the frequency of the 2 alternative alleles, K and A, of the K232A polymorphism in French Holstein, Normande, and Montbeliarde breeds. Although the K allele segregates in French Holstein and Normande breeds with a similar effect on production traits, the existence of additional mutations contributing to the observed QTL effect is strongly suggested in both breeds by the existence of sires heterozygous at the QTL but homozygous at the K232A polymorphism. One allele at a variable number of tandem repeats (VNTR) locus in the 5' noncoding region of DGAT1 has been recently proposed as a putative causative variant. In our study, this marker was found to present a high mutation rate of 0.8% per gamete and per generation, making the allele diversity observed compatible with that expected under neutrality. Moreover, among the sires homozygous at the K232A polymorphism, no allele at the VNTR can fully explain their QTL status. Finally, no allele at the VNTR was found to be significantly associated with the fat percentage variation in the 3 breeds simultaneously after correction for the effect of the K232A polymorphism. Therefore, our results suggest the existence of at least one other causative polymorphism not yet described. Because the A allele is nearly fixed in the Montbeliarde breed, this breed represents an interesting model to identify and confirm other mutations that have a strong effect on milk production traits.
Disciplines :
Animal production & animal husbandry Genetics & genetic processes
Author, co-author :
Gautier, M.
Capitan, A.
Fritz, S.
Eggen, A.
Boichard, D.
Druet, Tom ; Institut Scientifique de Recherche Agronomique - INRA > Département de Génétique Animale > Station de Génétique Quantitative et Appliquée
Language :
English
Title :
Characterization of the DGAT1 K232A and variable number of tandem repeat polymorphisms in French dairy cattle.
Publication date :
2007
Journal title :
Journal of Dairy Science
ISSN :
0022-0302
eISSN :
1525-3198
Publisher :
American Dairy Science Association, Champaign, United States - Illinois
Bennewitz, J., N. Reinsch, S. Paul, C. Looft, B. Kaupe, C. Weimann, G. Erhardt, G. Thaller, C. Kuhn, M. Schwerin, H. Thomsen, F. Reinhardt, R. Reents, and E. Kalm. 2004. The DGAT1 K232A mutation is not solely responsible for the milk production quantitative trait locus on the bovine chromosome 14. J. Dairy Sci. 87:431-442.
Boichard, D., S. Fritz, M. N. Rossignol, M. Y. Boscher, A. Malafosse, and J. J. Colleau. 2002. Implementation of marker-assisted selection in French dairy cattle. Commun, no. 22-03 in Proc. 7th World Congr. Genet. Appl. Livest. Prod., Montpellier, France.
Boichard, D., C. Grohs, F. Bourgeois, F. Cerqueira, R. Faugeras, A. Neau, R. Rupp, Y. Amigues, M. Y. Boscher, and H. Leveziel. 2003. Detection of genes influencing economic traits in three French dairy cattle breeds. Genet. Sel. Evol. 35:77-101.
Bois, P., and A. J. Jeffreys. 1999. Minisatellite instability and germline mutation. Cell. Mol. Life Sci. 55:1636-1648.
Coppieters, W., J. Riquet, J. J. Arranz, P. Berzi, N. Cambisano, B. Grisart, L. Karim, F. Marcq, L. Moreau, C. Nezer, P. Simon, P. Vanmanshoven, D. Wagenaar, and M. Georges. 1998. A QTL with major effect on milk yield and composition maps to bovine chromosome 14. Mamm. Genome 9:540-544.
Druet, T., S. Fritz, D. Boichard, and J. J. Colleau. 2006. Estimation of genetic parameters for quantitative trait loci for dairy traits in the French Holstein population. J. Dairy Sci. 89:4070-4076.
Furbass, R., A. Winter, R. Fries, and C. Kuhn. 2006. Alleles of the bovine DGATl variable number of tandem repeat associated with a milk fat QTL at chromosome 14 can stimulate gene expression. Physiol. Genomics 25:116-120.
Gilmour, A. R., B. R. Cullis, S. J. Welham, and R. Thompson. 2000. ASREML reference manual. http://www.ciser.cornell.edu/FAQ/ASReml_user_guide.pdf
Green, E., K. Falls, and S. Crooks. 1990. Documentation for CRI-MAP, version 2.4. http://linkage.rockefeller.edu/soft/crimap
Grisart, B., W. Coppieters, F. Farnir, L. Karim, C. Ford, P. Berzi, N. Cambisano, M. Mni, S. Reid, P. Simon, R. Spelman, M. Georges, and R. Snell. 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 Res. 12:222-231.
Grisart, B., F. Farnir, L. Karim, N. Cambisano, J. J. Kim, A. Kvasz, M. Mni, P. Simon, J. M. Frere, W. Coppieters, and M. Georges. 2004. Genetic and functional confirmation of the causality of the DGAT1 K232A quantitative trait nucleotide in affecting milk yield and composition. Proc. Natl. Acad. Sci. USA 101:2398-2403.
Haley, C. S., and S. A. Knott. 1992. A simple regression method for mapping quantitative trait loci in line crosses using flanking markers. Heredity 69:315-324.
Hedrick, P. W. 1987. Gametic disequilibrium measures: Proceed with caution. Genetics 117:331-341.
Heyen, D. W., J. I. Weiler, M. Ron, M. Band, J. E. Beever, E. Feldmesser, Y. Da, G. R. Wiggans, P. M. VanRaden, and H. A. Lewin. 1999. A genome scan for QTL influencing milk production and health traits in dairy cattle. Physiol. Genomics 1:165-175.
Hill, W. G. 1975. Linkage disequilibrium among multiple neutral alleles produced by mutation in finite population. Theor. Popul. Biol. 8:117-126.
Hill, W. G., and A. Robertson. 1968. Linkage disequilibrium in finite populations. Theor. Appl. Genet. 38:226-231.
Kaupe, B., A. Winter, R. Fries, and G. Erhardt. 2004. DGAT1 polymorphism in Bos indicus and Bos taurus cattle breeds. J. Dairy Res. 71:182-187.
Kuhn, C., G. Thaller, A. Winter, O. R. Bininda-Emonds, B. Kaupe, G. Erhardt, J. Bennewitz, M. Schwerin, and R. Fries. 2004. Evidence for multiple alleles at the DGAT1 locus better explains a quantitative trait locus with major effect on milk fat content in cattle. Genetics 167:1873-1881.
Lacorte, G. A., M. A. Machado, M. L. Martinez, A. L. Campos, R. P. Maciel, R. S. Verneque, R. L. Teodoro, M. G. C. D. Peixoto, M. R. S. Carvalho, and C. G. Fonseca. 2006. DGAT1 K232A polymorphism in Brazilian cattle breeds. Genet. Mol. Res. 5:475-482.
Looft, C., N. Reinsch, C. Karall-Albrecht, S. Paul, M. Brink, H. Thomsen, G. Brockmann, C. Kuhn, M. Schwerin, and E. Kalm. 2001. A mammary gland EST showing linkage disequilibrium to a milk production QTL on bovine Chromosome 14. Mamm. Genome 12:646-650.
Ohta, T., and M. Kimura. 1973. A model of mutation appropriate to estimate the number of electrophoretically detectable alleles in a finite population. Genet. Res. 22:201-204.
Sanders, K., J. Bennewitz, N. Reinsch, G. Thaller, E. M. Prinzenberg, C. Kuhn, and E. Kalm. 2006. Characterization of the DGAT1 mutations and the CSN1S1 promoter in the German Angeln dairy cattle population. J. Dairy Sci. 89:3164-3174.
Seaton, G., C. S. Haley, S. A. Knott, M. Kearsey, and P. M. Visscher. 2002. QTL Express: Mapping quantitative trait loci in simple and complex pedigrees. Bioinformatics 18:339-340.
Spelman, R. J., C. A. Ford, P. McElhinney, G. C. Gregory, and R. G. Snell. 2002. Characterization of the DGAT1 gene in the New Zealand dairy population. J. Dairy Sci. 85:3514-3517.
Thaller, G., W. Kramer, A. Winter, B. Kaupe, G. Erhardt, and R. Fries. 2003. Effects of DGAT1 variants on milk production traits in German cattle breeds. J. Anim. Sci. 81:1911-1918.
VanRaden, P. M., and G. R. Wiggans. 1991. Derivation, calculation, and use of national animal model information. J. Dairy Sci. 74:2737-2746.
Weller, J. I., M. Golik, E. Seroussi, E. Ezra, and M. Ron. 2003. Population-wide analysis of a QTL affecting milk-fat production in the Israeli Holstein population. J. Dairy Sci. 86:2219-2227.
Weller, J. I., Y. Kashi, and M. Soller. 1990. Power of daughter and granddaughter designs for determining linkage between marker loci and quantitative trait loci in dairy cattle. J. Dairy Sci. 73:2525-2537.
Winter, A., W. Kramer, F. A. Werner, S. Kollers, S. Kata, G. Durstewitz, J. Buitkamp, J. E. Womack, G. Thaller, and R. Fries. 2002. Association of a lysine-232/alanine polymorphism in a bovine gene encoding acyl-CoA: diacylglycerol aeyltransferase (DGAT1) with variation at a quantitative trait locus for milk fat content. Proc. Natl. Acad. Sci. USA 99:9300-9305.
