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Exploring novel single nucleotide polymorphisms and haplotypes of the diacylglycerol O-acyltransferase 1 (DGAT1) gene and their effects on protein structure in Iranian buffalo

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Abstract

Background

Diacylglycerol O-acyltransferase 1 (DGAT1) plays a key role in the synthesis of triglycerides. Recent studies have shown that a transition mutation resulting in substitutions of guanine by adenine in the DGAT1 gene in cattle has considerable effects on milk yield and composition. Currently, there is no systematic research reporting on the utilization of this gene segment in Iranian buffalo (Bubalus bubalis).

Objective

In this study, the genetic differentiation of three indigenous Iranian buffalo populations was investigated in the region spanning exon 3 to exon 17 of the DGAT1 gene.

Methods

A total of 200 buffaloes were genotyped, all the samples were sequenced directly in both directions with forward and reverse sequencing primers.

Results

Sequence analysis showed novel SNPs compared to the reference GenBank sequence (DQ886485) at nucleotide positions g.6097A>G, g.7036C>T, g.7338G>A, g.7710C>T, g.8087C>T, g.8259G>A, g.8275G>A, g.8367C>T, and g.8426C>T. No polymorphisms were found within exon 8. Therefore, the K232A position was thought to be a conserved and fixed region for high milk fat content (K allele) in Bos indicus and all buffalo breeds. Comparison with Indian buffalo revealed three exonic SNPs, one of which was nonsynonymous. A unique 22 bp insertion was observed in intron 10 of DGAT1. Linkage disequilibrium analysis allowed the identification of nine haplotypes among the sampled animals. To our knowledge, this is the first report of sequencing analysis of the DGAT1 gene in Iranian buffalo.

Conclusion

Our results suggest that genetic diversity exists and could be useful in examining the association between the DGAT1 gene and milk production traits in buffalo.

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References

  • An XP, Hou JX, Zhao HB, Bai L, Peng JY, Zhu CM, Yan QM, Song YX, Wang JG, Cao BY (2013) Polymorphism identification in goat DGAT1 and STAT5A genes and association with milk production traits. Czech J Anim Sci 58(7):321–327

    Article  CAS  Google Scholar 

  • Angiolillo A, Amills M, Urrutia B, Domenech A, Sastre Y, Badaoui B, Jordana J (2007) Identification of a single nucleotide polymorphism at intron 16 of the caprine acyl-coenzyme a: diacylglycerol acyltransferase 1 (DGAT1) gene. J Dairy Res 74:41–57

    Article  Google Scholar 

  • Banos G, Woolliams JA, Woodward BW, Forbes AB, Coffey MP (2008) Impact of single nucleotide polymorphisms in leptin, leptin receptor, growth hormone receptor, and diacylglycerol acyltransferase (DGAT1) gene loci on milk production, feed, and body energy traits of UK dairy cows. J Dairy Sci 91:3190–3200

    Article  CAS  Google Scholar 

  • Cases S, Smith SJ, Zheng YW, Myers HM, Lear SR, Sande E, Novak S, Collins C, Welch CB, Lusis AJ, Erickson SK, Farese RV Jr (1998) Identification of a gene encoding an acyl CoA: diacylglycerol acyltransferase, a key enzyme in triacylglycerol synthesis. Proc Natl Acad Sci USA 95:13018–13023

    Article  CAS  Google Scholar 

  • Coppieters W, Riquet J, Arranz JJ, Berzi P, Cambisano N, Grisart B, Karim L, Marcq F, Moreau L, Nezer C, Simon P, Vanmanshoven P, Wagenaar D, Georges M (1998) A QTL with major effect on milk yield and composition maps to bovine chromosome 14. Mamm Genome 9:540–544

    Article  CAS  Google Scholar 

  • Fahim Uddin M (2000) Buffalo breeding, translated by Jalil Shoja and Seyed’abbas Raafat, Publication of West Azarbaijan Jihad Daneshgahi, First edition

  • FAOSTAT (2010) Statistical Division, Food and Agriculture Organization of the United Nations. Rome. Italy. http://faostat.fao.org. Accessed 9 May 2014

  • Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B et al (2002) The structure of haplotype blocks in the human genome. Science 296:2225–2229

    Article  CAS  Google Scholar 

  • Gregoret LM, Sauer RT (1998) Tolerance of a protein helix to multiple alanine and valine substitutions. Fold Des 3(2):119–126

    Article  CAS  Google Scholar 

  • Grisart B, Coppieters W, Farnir F, Karim L, Ford C, Berzi P, Cambisano N, Mni M, Reid S, Simon P, Spelman R, Georges M, 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 Res 12:222–231

    Article  CAS  Google Scholar 

  • Grisart B, Farnir F, Karim L, Cambisano N, Kim JJ, Alex K, Mni M, Simon P, Frere JM, Coppieters W, Georges M (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

    Article  CAS  Google Scholar 

  • Hastings ML, Krainer AR (2001) Pre-mRNA splicing in the new millennium. Curr Opin Cell Biol 13:302–309

    Article  CAS  Google Scholar 

  • Heydarian D, Miraei-Ashtiani SR, Sadeghi M (2014) Study on DGAT1-exon8 polymorphism in Iranian Buffalo. Int J Adv Biol Biomed Res 2(7):2276–2282

    CAS  Google Scholar 

  • Kierstein G, Vallinoto M, Silva A, Schneider MP, Iannuzzi L (2004) Analysis of mitochondrial D-loop region casts new light on domestic water buffalo (Bubalus bubalis) phylogeny. Mol Phylogenet Evol 30:308–324

    Article  CAS  Google Scholar 

  • LeHir H, Nott A, Moore M (2003) How introns influence and enhance eukaryotic gene expression. Trends Biochem Sci 28:215–220

    Article  CAS  Google Scholar 

  • Mishra B, Tantia MS, Bharani Kumar ST, Ramesh KV (2007) Short communication: characterization of the DGAT1 gene in the Indian buffalo (Bubalus bubalis). Genet Mol Biol 30:1097–1100

    Article  CAS  Google Scholar 

  • Molee A, Duanghaklang N, Na-Lampang P (2012) Effects of acyl-CoA: diacylglycerol acyl transferase 1 (DGAT1) gene on milk production traits in crossbred Holstein dairy cattle. Trop Anim Health Prod 44(4):751–755

    Article  Google Scholar 

  • Özdil F, İlhan F (2012) DGAT1-exon8 polymorphism in Anatolian buffalo. Livest Sci 149:83–87

    Article  Google Scholar 

  • Phillips MS, Lawrence R, Sachidanandam R, Morris AP, Balding DJ, Donaldson MA, Studebaker JF, Ankener WM, Alfisi SV, Kuo FS et al (2003) Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots. Nat Genet 33:382–387

    Article  CAS  Google Scholar 

  • Raut AA, Kumar A, Kala SN, Chhokar V, Rana N (2012) Identification of novel single nucleotide polymorphisms in the DGAT1 gene of buffaloes by PCR-SSCP. Genet Mol Biol 35:610–613

    Article  CAS  Google Scholar 

  • Scata MC, Napolitano F, Casu S, Carta A, De Matteis G et al (2009) Ovine acyl CoA: diacylglycerol acyltransferase 1-molecular characterization, polymorphisms and association with milk traits. Anim Genet 40:737–742

    Article  CAS  Google Scholar 

  • Smith SJ, Cases S, Jensen DR, Chen HC, Sande E, Tow B, Sanan DA, Raber J, Eckel RH, Farese RV Jr (2000) Obesity resistance and multiple mechanisms of triglyceride synthesis in mice lacking DGAT. Nat Genet 25:87–90

    Article  CAS  Google Scholar 

  • Spelman RJ, Ford CA, McElhinney P, Gregory GC, Snell RG (2002) Characterization of the DGAT1 gene in the New Zealand dairy population. J Dairy Sci 85:3514–3517

    Article  CAS  Google Scholar 

  • Statistical Center of Iran (2010) http://www.amar.org.ir. Accessed 14 July 2013

  • Tantia MS, Vijh RK, Mishra BP, Mishra B, Kumar BST et al (2006) DGAT1 and ABCG2 polymorphism in Indian cattle (Bos indicus) and buffalo (Bubalus bubalis) breeds. BMC Vet Res 2:32

    Article  Google Scholar 

  • Thaller G, Kühn C, Winter A, Ewald G, Bellmann O, Wegner J, Zühlke H, Fries R (2003) DGAT1, a new positional and functional candidate gene for intramuscular fat deposition in cattle. Anim Genet 34:354–357

    Article  CAS  Google Scholar 

  • Van der Werf JHJ, Marshall K, Lee S (2007) Methods and experimental designs for detection of QTL in sheep and goats. Small Rumin Res 70:21–31

    Article  Google Scholar 

  • Venkatachalapathy RT, Sharma A, Battacharta TK, Sukla S (2013) Single nucleotide polymorphism in DGAT1 locus of Indian cattle and buffalo breeds. Anim Genet Div 3:68–71

    Google Scholar 

  • Weller JI, Golik M, Seroussi E, Ezra E, Ron M (2003) Population-wide analysis of a QTL affecting milk-fat production in the Israelian Holstein population. J Dairy Sci 86:2219–2227

    Article  CAS  Google Scholar 

  • Winter A, Krämer W, Werner FA, Kollers S, Kata S, Durstewitz G, Buitkamp J, Womack JE, Thaller G, Fries R (2002) Association of alysine-232/alanine polymorphism in a bovine gene encoding acyl-CoA: diacylglycerol acyltransferase (DGAT1) with variation at a quantitative trait locus for milk fat content. Proc Natl Acad Sci USA 99:9300–9305

    Article  CAS  Google Scholar 

  • Yindee M, Vlamings BH, Wajjwalku W, Techakumphu M, Lohachit C (2010) Y-chromosomal variation confirms independent domestications of swamp and river buffalo. Anim Genet 41:433–435

    CAS  PubMed  Google Scholar 

  • Yu YH, Zhang YY, Oelkers P, Sturley SL, Rader DJ et al (2002) Posttranscriptional control of the expression and function of diacylglycerol acyltransferase-1 in mouse adipocytes. J Biol Chem 277:50876–50884

    Article  CAS  Google Scholar 

  • Yuan J, Zhou J, Deng X, Hu X, Li N (2007) Molecular cloning and single nucleotide polymorphism detection of buffalo DGAT1 gene. Biochem Genet 45:611–621

    Article  CAS  Google Scholar 

Download references

Acknowledgements

This study was supported financially by the National Research Foundation of Korea (Grant number 31Z20130012928). The authors are grateful to Mr. Javad Rahmaninia and Mr. Mehdi Mokhber for their assistance in sample collection, and the University of Tehran, Iran.

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Authors and Affiliations

  1. Department of Animal Science, University College of Agriculture and Natural Resources, University of Tehran, P.O. Box 4111, Karaj, 31587-11167, Iran

    Masoumeh Naserkheil, Seyed Reza Miraie-Ashtiani, Mostafa Sadeghi & Ardeshir Nejati-Javaremi

  2. Department of Animal Biotechnology, Graduate School of Future Convergence Technology, Hankyong National University, Joongang-Ro 327, Ansung, Kyeonggi-Do, 456-749, Korea

    Chae-Won Park, Kwan-Sik Min & Deukhwan Lee

Authors
  1. Masoumeh Naserkheil
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  2. Seyed Reza Miraie-Ashtiani
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  3. Mostafa Sadeghi
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  4. Ardeshir Nejati-Javaremi
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  6. Kwan-Sik Min
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  7. Deukhwan Lee
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Correspondence to Seyed Reza Miraie-Ashtiani or Deukhwan Lee.

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Conflict of interest

All authors (1) Masoumeh Naserkheil, (2) Seyed Reza Miraie-Ashtiani, (3) Mostafa Sadeghi, (4) Ardeshir Nejati-Javaremi, (5) Chae-Won Park, (6) Kwan-Sik Min, and (7) Deukhwan Lee declare that they have no conflict of interest.

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No ethics statement was required for the collection of DNA samples. DNA was extracted from fur samples obtained from different veterinary practitioners with the permission of the owners.

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Naserkheil, M., Miraie-Ashtiani, S.R., Sadeghi, M. et al. Exploring novel single nucleotide polymorphisms and haplotypes of the diacylglycerol O-acyltransferase 1 (DGAT1) gene and their effects on protein structure in Iranian buffalo. Genes Genom 41, 1265–1271 (2019). https://doi.org/10.1007/s13258-019-00854-2

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