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Journal of applied genetics2018; 60(1); 71-78; doi: 10.1007/s13353-018-0473-2

5′-flanking variants of equine casein genes (CSN1S1, CSN1S2, CSN2, CSN3) and their relationship with gene expression and milk composition.

Abstract: Genes encoding casein proteins are important candidates for milk composition traits in mammals. In the case of the domestic horse, our knowledge of casein genes is limited mainly to coding sequence variants. This study involved screening for polymorphism in 5'-flanking regions of four genes encoding equine caseins (CSN1S1, CSN1S2, CSN2, and CSN3) and making a preliminary assessment of their effect on the gene expression (on the mRNA and protein levels) and milk composition traits in selected horse breeds. Altogether, 23 polymorphisms (21 described previously SNPs and two novel InDels) were found in the studied sequences, the majority of which are common in various horse breeds. Statistical analysis revealed that some are putatively associated with gene expression or milk composition - for example, the c.-2047_-2048insAT polymorphism (CSN1S1) turns out to be related to the total milk protein content in Polish Primitive Horse (p G SNP (CSN2) is related to beta-casein relative mRNA level and milk lactose concentration in the Polish Coldblood Horse breed (p < 0.05). We have also found significant effects of horse breed and lactation time-point on gene expression and mare's milk composition. Our study indicates that the 5'-regulatory regions of genes encoding casein proteins are interesting targets for functional studies of their expression and the composition traits of mare's milk.
Publication Date: 2018-10-16 PubMed ID: 30328055PubMed Central: PMC6373402DOI: 10.1007/s13353-018-0473-2Google Scholar: Lookup
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  • Journal Article

Summary

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This research article investigates the relationship between gene variants in equine casein (a milk protein) genes and variations in milk composition in different horse breeds. It suggests that polymorphisms, specifically variations in the 5′-flanking regions of these genes, may influence gene expression and milk protein content.

Research Context and Objective

  • The article starts by acknowledging the significance of casein protein genes for milk composition traits in mammals. However, it notes that there is limited understanding about these genes in domestic horses.
  • The objective of the research was to investigate polymorphism (variations in DNA sequence) in the 5′-flanking regions of four genes encoding equine caseins. Furthermore, the study aimed to preliminarily assess how these variations could be influencing gene expression and milk composition traits in selected horse breeds.

Methods and Findings

  • The study involved screening for polymorphisms, particularly in the 5′-flanking regions of four genes (CSN1S1, CSN1S2, CSN2, and CSN3) encoding for equine caseins.
  • The researchers discovered a total of 23 polymorphisms, 21 of which were previously described single-nucleotide polymorphisms (SNPs), and two were new insertion-deletion mutations (InDels). These variations were found common in various horse breeds.
  • Through statistical analysis, the researchers identified potential associations between some of these polymorphisms and gene expression or milk composition. For instance, the c.-2047_-2048insAT polymorphism in the CSN1S1 gene was associated with total milk protein content in Polish Primitive Horses. Conversely, the c.-2105C>G SNP in the CSN2 gene was associated with beta-casein relative mRNA level and milk lactose concentration in Polish Coldblood Horses.

Significance and Implications

  • From the findings, the research concluded that the breed of the horse and the lactation time-point significantly influences gene expression and the composition of the mare’s milk.
  • The study underscores the relevance of the 5′-regulatory regions of genes encoding casein proteins for functional studies of their expression and how this influences milk composition traits in mares.
  • Though preliminary, these findings add to our understanding of how genetic variations can influence milk protein content in horses and potentially other mammals. This could be of value in improving the nutritional content of milk or in the selection for certain traits in dairy farming.

Cite This Article

APA
Cieslak J, Wodas L, Borowska A, Pawlak P, Czyzak-Runowska G, Wojtowski J, Puppel K, Kuczynska B, Mackowski M. (2018). 5′-flanking variants of equine casein genes (CSN1S1, CSN1S2, CSN2, CSN3) and their relationship with gene expression and milk composition. J Appl Genet, 60(1), 71-78. https://doi.org/10.1007/s13353-018-0473-2

Publication

ISSN: 2190-3883
NlmUniqueID: 9514582
Country: England
Language: English
Volume: 60
Issue: 1
Pages: 71-78

Researcher Affiliations

Cieslak, Jakub
  • Department of Horse Breeding, Poznan University of Life Sciences, Wolynska 33, 60-637, Poznan, Poland. jcieslak@up.poznan.pl.
Wodas, Lukasz
  • Department of Horse Breeding, Poznan University of Life Sciences, Wolynska 33, 60-637, Poznan, Poland.
Borowska, Alicja
  • Department of Horse Breeding, Poznan University of Life Sciences, Wolynska 33, 60-637, Poznan, Poland.
Pawlak, Piotr
  • Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Wolynska 33, 60-637, Poznan, Poland.
Czyzak-Runowska, Grazyna
  • Department of Animal Breeding and Product QualityAssessment, Poznan University of Life Sciences, Sloneczna 1, 62-002, Zlotniki, Poland.
Wojtowski, Jacek
  • Department of Animal Breeding and Product QualityAssessment, Poznan University of Life Sciences, Sloneczna 1, 62-002, Zlotniki, Poland.
Puppel, Kamila
  • Department of Animal Science, Cattle Breeding Division, Warsaw University of Life Sciences, Ciszewskiego 8, 02-786, Warsaw, Poland.
Kuczynska, Beata
  • Department of Animal Science, Cattle Breeding Division, Warsaw University of Life Sciences, Ciszewskiego 8, 02-786, Warsaw, Poland.
Mackowski, Mariusz
  • Department of Horse Breeding, Poznan University of Life Sciences, Wolynska 33, 60-637, Poznan, Poland.
  • Horse Genetic Markers Laboratory, Poznan University of Life Sciences, Wolynska 33, 60-637, Poznan, Poland.

MeSH Terms

  • Animals
  • Breeding
  • Caseins / genetics
  • Female
  • Horses / genetics
  • Lactation
  • Lactose / analysis
  • Milk / chemistry
  • Polymorphism, Single Nucleotide

Grant Funding

  • 2011/03/D/NZ9/05337 / Narodowe Centrum Nauki

Conflict of Interest Statement

CONFLICT OF INTEREST: The authors declare that they have no conflict of interest. ETHICAL APPROVAL: All applicable international, national, and/or institutional guidelines for the care and use of animals were followed.

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Citations

This article has been cited 5 times.
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