Skip to main content
    • Aa
    • Aa

Polymorphisms in genes in the SREBP1 signalling pathway and SCD are associated with milk fatty acid composition in Holstein cattle

  • Gonzalo Rincon (a1), Alma Islas-Trejo (a1), Alejandro R Castillo (a2), Dale E Bauman (a3), Bruce J German (a4) and Juan F Medrano (a1)...

Genes in the sterol regulatory element-binding protein-1 (SREBP1) pathway play a central role in regulation of milk fat synthesis, especially the de-novo synthesis of saturated fatty acids. SCD, a SREBP-responsive gene, is the key enzyme in the synthesis of monounsaturated fatty acids in the mammary gland. In the present study, we discovered SNP in candidate genes associated with this signalling pathway and SCD to identify genetic markers that can be used for genetic and metabolically directed selection in cattle. We resequenced six candidate genes in the SREBP1 pathway (SREBP1, SCAP, INSIG1, INSIG2, MBTPS1, MBTPS2) and two genes for SCD (SCD1 and SCD5) and discovered 47 Tag SNP that were used in a marker-trait association study. Milk and blood samples were collected from Holstein cows in their 1st or 2nd parity at 100–150 days of lactation. Individual fatty acids from C4 to C20, saturated fatty acid (SFA) content, monounsaturated fatty acid content, polyunsaturated fatty acid content and desaturase indexes were measured and used to perform the asociation analysis. Polymorphisms in the SCD5 and INSIG2 genes were the most representative markers associated with SFA/unsaturated fatty acid (UFA) ratio in milk. The analysis of desaturation activity determined that markers in the SCD1 and SCD5 genes showed the most significant effects. DGAT1 K232A marker was included in the study to examine the effect of this marker on the variation of milk fatty acids in our Holstein population. The percentage of variance explained by DGAT1 in the analysis was only 6% of SFA/UFA ratio. Milk fat depression was observed in one of the dairy herds and in this particular dairy one SNP in the SREBP1 gene (rs41912290) accounted for 40% of the phenotypic variance. Our results provide detailed SNP information for key genes in the SREBP1 signalling pathway and SCD that can be used to change milk fat composition by marker-assisted breeding to meet consumer demands regarding human health, as well as furthering understanding of technological aspects of cows' milk.

Corresponding author
*For correspondence; e-mail:
Hide All
DE Bauman & JM Griinari 2001 Regulation and nutritional manipulation of milk fat: low-fat milk syndrome. Livestock Production Science 70 1529

DE Bauman & JM Griinari 2003 Nutritional regulation of milk fat synthesis. Annual Reviews of Nutrition 23 203227

DE Bauman , IH Mather , RJ Wall & AL Lock 2006 Major advances associated with the biosynthesis of milk. Journal of Dairy Science 89 12351243

LH Baumgard , E Matitashvili , BA Corl , DA Dwyer & DE Bauman 2002 trans-10, cis-12 conjugated linoleic acid decreases lipogenic rates and expression of genes involved in milk lipid synthesis in dairy cows. Journal of Dairy Science 85 21552163

AC Bouwman , H Bovenhuis , MH Visker & JA van Arendonk 2011 Genome-wide association of milk fatty acids in Dutch dairy cattle. BMC Genetics 12 43

A Canovas , G Rincon , A Islas-Trejo , S Wickramasinghe & JF Medrano 2010 SNP discovery in the bovine milk transcriptome using RNA-Seq technology. Mammary Genome 21 592598

O Couronne , A Poliakov , N Bray , T Ishkhanov , D Ryaboy , E Rubin & L Pachter 2003 Strategies and tools for whole-genome alignments. Genome Research 13 7380

JA Kelsey , BA Corl , RJ Collier & DE Bauman 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

PM Kgwatalala , EM Ibeagha-Awemu , AF Mustafa & X Zhao 2009 Stearoyl-CoA desaturase 1 genotype and stage of lactation influences milk fatty acid composition of Canadian Holstein cows. Animal Genetics 40 609615

AJ Lengi & BA Corl 2007 Identification and characterization of a novel bovine stearoyl-CoA desaturase isoform with homology to human SCD5. Lipids 42 499508

AL Lock & PC Garnsworthy 2003 Seasonal variation in milk conjugated linoleic acid and Delta 9-desaturase activity in dairy cows. Livestock Production Science 79 4759

R McPherson & A Gauthier 2004 Molecular regulation of SREBP function: the Insig-SCAP connection and isoform-specific modulation of lipid synthesis. Biochemistry and Cell Biology 82 201211

EE Mosley & MA McGuire 2007 Methodology for the in vivo measurement of the delta9-desaturation of myristic, palmitic, and stearic acids in lactating dairy cattle. Lipids 42 939945

AM O'Donnell-Megaro , DM Barbano & DE Bauman 2011 Survey of the fatty acid composition of retail milk in the United States including regional and seasonal variations. Journal of Dairy Science 94 5965

DL Palmquist , AL Lock , KJ Shingfield & DE Bauman 2005 Biosynthesis of conjugated linoleic acid in ruminants and humans. Advances in Food and Nutrition Research 50 179217

A Schennink , WM Stoop , MH Visker , JM Heck , H Bovenhuis , JJ van der Poel , HJ van Valenberg & JA van Arendonk 2007 DGAT1 underlies large genetic variation in milk-fat composition of dairy cows. Animal Genetics 38 467473

H Shimano 2009 SREBPs: physiology and pathophysiology of the SREBP family. FEBS Journal 276 616621

H Soyeurt , P Dardenne , A Gillon , C Croquet , S Vanderick , P Mayeres , C Bertozzi & N Gengler 2006 Variation in fatty acid contents of milk and milk fat within and across breeds. Journal of Dairy Science 89 48584865

H Soyeurt , F Dehareng , P Mayeres , C Bertozzi & N Gengler 2008 Variation of delta 9-desaturase activity in dairy cattle. Journal of Dairy Science 91 32113224

A Winter , W Kramer , FA Werner , S Kollers , S Kata , G Durstewitz , J Buitkamp , JE Womack , G Thaller & R Fries 2002 Association of a lysine-232/alanine polymorphism in a bovine gene encoding acyl-CoA:diacylglycerol acyltransferase (DGAT1) with variation at a quantitative trait locus for milk fat content. Proceedings of the National Academy of Sciences USA 99 93009305

P Zavattari , A Loche , P Civolani , S Pilia , L Moi , MR Casini , L Minerba & S Loche 2010 An INSIG2 polymorphism affects glucose homeostasis in Sardinian obese children and adolescents. Annals of Human Genetics 74 381386

Recommend this journal

Email your librarian or administrator to recommend adding this journal to your organisation's collection.

Journal of Dairy Research
  • ISSN: 0022-0299
  • EISSN: 1469-7629
  • URL: /core/journals/journal-of-dairy-research
Please enter your name
Please enter a valid email address
Who would you like to send this to? *



Full text views

Total number of HTML views: 4
Total number of PDF views: 45 *
Loading metrics...

Abstract views

Total abstract views: 218 *
Loading metrics...

* Views captured on Cambridge Core between September 2016 - 17th October 2017. This data will be updated every 24 hours.