Identification of Single Nucleotide Polymorphism in 5'-UTR of CYP11B1 Gene in Pakistani Sahiwal Cattle
A major goal in animal genetics is to understand the role of common genetic variants in diseases susceptibility and production traits. Sahiwal cattle can be considered as a global animal genetic resource due to its relatively high milk producing ability, resistance against tropical diseases and heat tolerant. CYP11B1 gene provides instructions for making a mitochondrial enzyme called steroid 11-beta-hydroxylase. It catalyzes the 11deoxy-cortisol to cortisol and 11deoxycorticosterone to corticosterone in cattle. The bovine CYP11B1 gene is positioned on BTA14q12 comprises of eight introns and nine exons and protein is associated with mitochondrial epithelium. The present study was aimed to identify the single-nucleotide polymorphisms in CYP11B1 gene in Sahiwal cattle breed of Pakistan. Four polymorphic sites were identified in exon one of CYP11B1 gene through sequencing approach. Significant finding was the incidence of the C→T polymorphism in 5'-UTR, causing amino acid substitution from alanine to valine (A30V) in Sahiwal cattle breed. That Ala/Val polymorphism may serve as a powerful genetic tool for the development of DNA markers that can be used for the particular traits for different local cattle breeds.
[1] Anderson EC, Garza JC. 2006. The power of single-nucleotide polymorphisms for large-scale parentage inference. Genetics 172: 2567-2582.
[2] Bagnato A, Schiavini F, Rossoni A. 2008. Quantitative trait loci affecting milk yield and protein percentage in a three-country Brown Swiss population. J Dairy Sci. 91:767-783.
[3] Bennewitz, J, Reinsch N, Paul S, Looft C, Kaupe B, Weimann C, Erhardt G, Thaller G, Kuhn C, Schwerin M, Thomsen H, Reinhardt H, Reents R, Kalm E. 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.
[4] Bhathena, SJ. 2000. Relationship between fatty acids and the endocrine system. Biofactors 13:35-39.
[5] Boichard D, Grohs C, Bourgeois F. 2003. Detection of genes influencing economic traits in three French dairy cattle breeds. Genet SelEvol. 35:77-101.
[6] Boleckova J, Matejickova J. Stipkova M, Sefrova J, Krejcova M, Barton L. 2012. The association of five polymorphisms with milkproduction traits in Czech Fleckvieh cattle. J Anim Sci. 57 (2): 45-53.
[7] Boleckova J, Matejickova J. Stipkova M, Sefrova J, Krejcova M. 2010. Polymorphism OfCYP11B1 Gene And Its Relation To Milk Production Traits In Czech Fleckvieh Cattle. Institute of Animal Science, Pratelstvi 815, 104 00, Prague Uhrineves, Czech Republic.
[8] Chakraborty R, Stivers DN, Su B, Zhong Y, Budowle B. 1999. The
utility of short tandem repeat loci beyond human identification:
Implications for development of new DNA typing systems.
Electrophoresis 20: 1682–1696.
[9] Kaupe B, Brandt H, Prinzenberg E-M, Erhardt G. 2007. Joint analysis of
the influence of CYP11B1 and DGAT1 genetic variation on milk
production, somatic cell score, conformation, reproduction, and
productive lifespan in German Holstein cattle. J Anim Sci. 85:11-21.
[10] Kaupe, B., S. Kollers, R. Fries, and G. Erhardt. 2004a. Mapping of
CYP11B1 and a putative CYHR1 paralogous gene to bovine
chromosome 14 by FISH. Anim. Genet. 35:6.
[11] Krawczak M. 1999. Informativity assessment for biallelic single
nucleotide polymorphisms. Electrophoresis 20: 1676–1681.
[12] Li H, Wang Z, Moore SS, Schenkel FS, Stothard P. 2010. Genome-wide
Scan For Positional And Functional Candidate Genes Affecting Milk
Production Traits In Canadian Holstein Cattle. Department of
Agricultural, Food and Nutritional Science, University of Alberta,
Edmonton, AB, Canada, T6G2P5.
[13] Lisurek, M., Bernhardt R. 2004. Modulation of aldosterone and cortisol
synthesis on the molecular level. Mol Cell Endocrinol. 27:149–159.
[14] Looft C, Reinsch N, Karall-Albrecht C. 2001. A mammary gland EST
showing linkage disequilibrium to a milk production QTL on bovine
Chromosome 14. Mamm Genome. 12:646-650.
[15] Marques E, de-Givry S, Stothard P. 2007. A high resolution radiation
hybrid map of bovine chromosome 14 identifies scaffold rearrangement
in the latest bovine assembly. BMC Genomics. 8:254.
[16] Morin PA, Martien KK, Taylor BL. 2009. Assessing statistical power of
SNPs for population structure and conservation studies. Molecular
Ecology Resources 9: 66–73.
[17] Rodriguez-Zas SL, Southey BR, Heyen DW, Lewin HA. 2002. Interval
and composite interval mapping of somatic cell score, yield, and
components of milk in dairy cattle. J Dairy Sci. 85:3081-91.
[18] Schnabel RD, Sonstegard TS, Taylor JF, Ashwell MS. 2005. Wholegenome
scan to detect QTL for milk production, conformation, fertility
and functional traits in two US Holstein families. Anim Genet. 36:408-
416.
[19] Thaller G, Krämer W, Winter A, Kaupe B, Erhardt G, Fries R. 2003.
Effects of DGAT1 variants on milk production traits in German cattle
breeds. J Anim Sci. 81:1911-1918.
[20] Via S, West J. 2008. The genetic mosaic suggests a new role for
hitchhiking in ecological speciation. Molecular Ecology 17: 4334–4345.
[21] Viitala SM, Schulman NF, de Koning DJ, Elo K, Kinos R, Virta A, Virta
J, Mäki-Tanila A, Vilkki JH. 2003. Quantitative trait loci affecting milk
production traits in Finnish Ayrshire dairy cattle. J Dairy Sci. 86:1828-
1836.
[22] Wibowo TA, Gaskins CT, Newberry RC, Thorgaard GH, Michal JJ,
Jiang Z. 2008. Genome Assembly Anchored QTL Map of Bovine
Chromosome 14. Int J Biol Sci. 4(6):406-414.
[1] Anderson EC, Garza JC. 2006. The power of single-nucleotide polymorphisms for large-scale parentage inference. Genetics 172: 2567-2582.
[2] Bagnato A, Schiavini F, Rossoni A. 2008. Quantitative trait loci affecting milk yield and protein percentage in a three-country Brown Swiss population. J Dairy Sci. 91:767-783.
[3] Bennewitz, J, Reinsch N, Paul S, Looft C, Kaupe B, Weimann C, Erhardt G, Thaller G, Kuhn C, Schwerin M, Thomsen H, Reinhardt H, Reents R, Kalm E. 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.
[4] Bhathena, SJ. 2000. Relationship between fatty acids and the endocrine system. Biofactors 13:35-39.
[5] Boichard D, Grohs C, Bourgeois F. 2003. Detection of genes influencing economic traits in three French dairy cattle breeds. Genet SelEvol. 35:77-101.
[6] Boleckova J, Matejickova J. Stipkova M, Sefrova J, Krejcova M, Barton L. 2012. The association of five polymorphisms with milkproduction traits in Czech Fleckvieh cattle. J Anim Sci. 57 (2): 45-53.
[7] Boleckova J, Matejickova J. Stipkova M, Sefrova J, Krejcova M. 2010. Polymorphism OfCYP11B1 Gene And Its Relation To Milk Production Traits In Czech Fleckvieh Cattle. Institute of Animal Science, Pratelstvi 815, 104 00, Prague Uhrineves, Czech Republic.
[8] Chakraborty R, Stivers DN, Su B, Zhong Y, Budowle B. 1999. The
utility of short tandem repeat loci beyond human identification:
Implications for development of new DNA typing systems.
Electrophoresis 20: 1682–1696.
[9] Kaupe B, Brandt H, Prinzenberg E-M, Erhardt G. 2007. Joint analysis of
the influence of CYP11B1 and DGAT1 genetic variation on milk
production, somatic cell score, conformation, reproduction, and
productive lifespan in German Holstein cattle. J Anim Sci. 85:11-21.
[10] Kaupe, B., S. Kollers, R. Fries, and G. Erhardt. 2004a. Mapping of
CYP11B1 and a putative CYHR1 paralogous gene to bovine
chromosome 14 by FISH. Anim. Genet. 35:6.
[11] Krawczak M. 1999. Informativity assessment for biallelic single
nucleotide polymorphisms. Electrophoresis 20: 1676–1681.
[12] Li H, Wang Z, Moore SS, Schenkel FS, Stothard P. 2010. Genome-wide
Scan For Positional And Functional Candidate Genes Affecting Milk
Production Traits In Canadian Holstein Cattle. Department of
Agricultural, Food and Nutritional Science, University of Alberta,
Edmonton, AB, Canada, T6G2P5.
[13] Lisurek, M., Bernhardt R. 2004. Modulation of aldosterone and cortisol
synthesis on the molecular level. Mol Cell Endocrinol. 27:149–159.
[14] Looft C, Reinsch N, Karall-Albrecht C. 2001. A mammary gland EST
showing linkage disequilibrium to a milk production QTL on bovine
Chromosome 14. Mamm Genome. 12:646-650.
[15] Marques E, de-Givry S, Stothard P. 2007. A high resolution radiation
hybrid map of bovine chromosome 14 identifies scaffold rearrangement
in the latest bovine assembly. BMC Genomics. 8:254.
[16] Morin PA, Martien KK, Taylor BL. 2009. Assessing statistical power of
SNPs for population structure and conservation studies. Molecular
Ecology Resources 9: 66–73.
[17] Rodriguez-Zas SL, Southey BR, Heyen DW, Lewin HA. 2002. Interval
and composite interval mapping of somatic cell score, yield, and
components of milk in dairy cattle. J Dairy Sci. 85:3081-91.
[18] Schnabel RD, Sonstegard TS, Taylor JF, Ashwell MS. 2005. Wholegenome
scan to detect QTL for milk production, conformation, fertility
and functional traits in two US Holstein families. Anim Genet. 36:408-
416.
[19] Thaller G, Krämer W, Winter A, Kaupe B, Erhardt G, Fries R. 2003.
Effects of DGAT1 variants on milk production traits in German cattle
breeds. J Anim Sci. 81:1911-1918.
[20] Via S, West J. 2008. The genetic mosaic suggests a new role for
hitchhiking in ecological speciation. Molecular Ecology 17: 4334–4345.
[21] Viitala SM, Schulman NF, de Koning DJ, Elo K, Kinos R, Virta A, Virta
J, Mäki-Tanila A, Vilkki JH. 2003. Quantitative trait loci affecting milk
production traits in Finnish Ayrshire dairy cattle. J Dairy Sci. 86:1828-
1836.
[22] Wibowo TA, Gaskins CT, Newberry RC, Thorgaard GH, Michal JJ,
Jiang Z. 2008. Genome Assembly Anchored QTL Map of Bovine
Chromosome 14. Int J Biol Sci. 4(6):406-414.
@article{"International Journal of Biological, Life and Agricultural Sciences:65446", author = "S. Manzoor and A. Nadeem and M. Javed and ME. Babar", title = "Identification of Single Nucleotide Polymorphism in 5'-UTR of CYP11B1 Gene in Pakistani Sahiwal Cattle", abstract = "A major goal in animal genetics is to understand the role of common genetic variants in diseases susceptibility and production traits. Sahiwal cattle can be considered as a global animal genetic resource due to its relatively high milk producing ability, resistance against tropical diseases and heat tolerant. CYP11B1 gene provides instructions for making a mitochondrial enzyme called steroid 11-beta-hydroxylase. It catalyzes the 11deoxy-cortisol to cortisol and 11deoxycorticosterone to corticosterone in cattle. The bovine CYP11B1 gene is positioned on BTA14q12 comprises of eight introns and nine exons and protein is associated with mitochondrial epithelium. The present study was aimed to identify the single-nucleotide polymorphisms in CYP11B1 gene in Sahiwal cattle breed of Pakistan. Four polymorphic sites were identified in exon one of CYP11B1 gene through sequencing approach. Significant finding was the incidence of the C→T polymorphism in 5'-UTR, causing amino acid substitution from alanine to valine (A30V) in Sahiwal cattle breed. That Ala/Val polymorphism may serve as a powerful genetic tool for the development of DNA markers that can be used for the particular traits for different local cattle breeds.
", keywords = "CYP11B1, single nucleotide polymorphism, sahiwal cattle, Pakistan.", volume = "7", number = "10", pages = "995-3", }
