Single nucleotide polymorphisms in the CXCR1 gene and its association with clinical mastitis incidence in Polish Holstein-Friesian cows

Pokorska, Joanna; Dusza, Magdalena; Kułaj, Dominika; Żukowski, Kacper; Makulska, J.

doi:10.4238/gmr.15027247

Cited by 11 publications

(16 citation statements)

References 19 publications

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“…It was shown that only 1 SNP (c. +365T>C) out of the six was significantly associated with mastitis in Polish cows. Animals with genotype CC were affected by udder inflammation most frequently [Pokorska et al 2016].…”

Section: Discussionmentioning

confidence: 99%

Associations Between Interleukin-8 Receptor (Cxcr1) and Interleukin-6 (Il6) Polymorphism and Immunity to Mastitis in the Black-and-White Variety of Polish Holstein-Friesian Cows

Stanisławczyk¹,

Wojdak-Maksymiec²

2018

Acta Sci. Pol. Zootech.

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The study involved 448 Black-and-White Holstein-Friesian cows. All animals came from one herd, they were kept in the same barn and in the same environmental conditions. Complete phenotypic data on the studied animals was collected. The aim of the research was to search for possible associations between SNPs in the CXCR1 and IL6 genes and mastitis. Identification of specific SNPs was possible due to the use of the PCR-ARMS method. Statistically significant associations were found between the analysed SNPs and resistance to mastitis and selected milk production traits.

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Section: Discussionmentioning

confidence: 99%

Associations Between Interleukin-8 Receptor (Cxcr1) and Interleukin-6 (Il6) Polymorphism and Immunity to Mastitis in the Black-and-White Variety of Polish Holstein-Friesian Cows

Stanisławczyk¹,

Wojdak-Maksymiec²

2018

Acta Sci. Pol. Zootech.

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“…Particularly, the SNP c.365C>T located in exon II of the CXCR1 gene resulted in a non-synonymous mutation [GCC (Ala) > GTC (Val)], which suggests its possible negative effect on the host response against mastitis (Zhou et al, 2013). According to Pokorska et al (2016), a non-synonymous mutation c.+365T>C in the bovine CXCR1 gene provoked a change in the coded protein [GCC (Ala) to GTC (Val) at the 122nd amino acid], demonstrating stronger association with susceptibility of Polish Holstein-Friesian cows to clinical mastitis.…”

Section: Introductionmentioning

confidence: 99%

In silico prediction of the functional and structural consequences of the non-synonymous single nucleotide polymorphism A122V in bovine CXC chemokine receptor type 1

et al. 2020

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Abstract The current study aimed to assess whether the A122V causal polymorphism promotes alterations in the functional and structural proprieties of the CXC chemokine receptor type 1 protein (CXCR1) of cattle Bos taurus by in silico analyses. Two amino acid sequences of bovine CXCR1 was selected from database UniProtKB/Swiss-Prot: a) non-polymorphic sequence (A7KWG0) with alanine (A) at position 122, and b) polymorphic sequence harboring the A122V polymorphism, substituting alanine by valine (V) at same position. CXCR1 sequences were submitted as input to different Bioinformatics’ tools to examine the effects of this polymorphism on functional and structural stabilities, to predict eventual alterations in the 3-D structural modeling, and to estimate the quality and accuracy of the predictive models. The A122V polymorphism exerted tolerable and non-deleterious effects on the polymorphic CXCR1, and the predictive structural model for polymorphic CXCR1 revealed an alpha helix spatial structure typical of a receptor transmembrane polypeptide. Although higher variations in the distances between pairs of amino acid residues at target-positions are detected in the polymorphic CXCR1 protein, more than 97% of the amino acid residues in both models were located in favored and allowed conformational regions in Ramachandran plots. Evidences has supported that the A122V polymorphism in the CXCR1 protein is associated with increased clinical mastitis incidence in dairy cows. Thus, the findings described herein prove that the replacement of the alanine by valine amino acids provokes local conformational changes in the A122V-harboring CXCR1 protein, which could directly affect its post-translational folding mechanisms and biological functionality.

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“…Therefore, despite improvements in the breeding of disease-resistant cows, mastitis continues to be a notable challenge and the major profitable issue for dairy farmers. Previous studies reported that cow mastitis was a complex quantitative trait affected by multiple reasons, including genetic features, pathogen infections (HERTL et al 2014;MOOSAVI et al 2014;USMAN et al 2015;POKORSKA et al 2016;KIKU et al 2017). It's confirmed that bovine milk somatic cell count (SCC) or log-transformed SCC (somatic cell score, SCS) are the primary trait for detection of mastitis and have high hereditary capacity .…”

Section: Introductionmentioning

confidence: 99%

“…Thus, Screening and identifying susceptibility or resistance genes associated with mastitis traits will improve the properties of dairy cow populations and is worthwhile to reduce the incidence of mastitis (SAHANA et al 2014;KADRI et al 2015;WANG et al 2015). Different research strategies successfully used to identify significant genes associated with the mastitis traits, including SNP in a candidate gene, quantitative trait loci (QTL) and GWAS (BRONDUM et al 2015;POKORSKA et al 2016;ZHANG et al 2016).…”

Section: Introductionmentioning

confidence: 99%

“…Genetic variations in immune response, specific pathogen (LY75, DPP4, ITGB6 and NR4A2) and lymphocyte antigen-6 complex genes (LY6K, LY6D, LYNX1, LYPD2, SLURP1 and PSCA) might lead to clinical mastitis in American Holstein cows (TIEZZI et al 2015). Additionally, single gene polymorphisms (CXCR1, MAP4K4) and their signaling pathways (TLR4/NF-κB) served as genetic markers for mastitis in different cow populations (POKORSKA et al 2016;BHATTARAI et al 2017). These results suggested that genetic variations or polymorphisms associated with mastitis traits are inconsistent, should screen and validated in different populations.…”

Section: Introductionmentioning

confidence: 99%

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GWAS using 2b-RAD sequencing identified three mastitis important SNPs via two-stage association analysis in Chinese Holstein cows

Yang

Chen

et al. 2018

Preprint

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BackgroundBovine mastitis is a key disease restricting developing global dairy industry. Genomic wide association studies (GWAS) provided a convenient way to understand the biological basis of mastitis and better prevent or treat the disease. 2b-RADseq is a reduced-representation sequencing that offered a powerful method for genome-wide genetic marker development and genotyping. This study, GWAS using two-stage association analysis identified mastitis important genes’ single nucleotide polymorphisms (SNP) in Chinese Holstein cows.ResultsIn the selected Chinese Holstein cows’ population, we identified 10,058 SNPs and predicted their allele frequencies. In stage I, 42 significant SNPs screened out in Chinese Holstein cows via Bayesian (P<0.001), while logistic regression model identified 51 SNPs (P<0.01). Twenty-seven significant SNPs appeared simultaneously in both analytical models, which of them only three significant SNPs (rs75762330, C>T, PIC=0.2999; rs88640083, A>G, PIC=0.1676; rs20438858, G>A, PIC=0.3366) located in non-coding region (introns and intergenic) screened out associated with inflammation or immune response. GO enrichment analysis showed that they annotated to three genes (PTK2B, SYK and TNFRSF21), respectively. Stage II? case-control study used to verify three important SNPs associated with dairy cows mastitis traits in independent population. Data suggested that the correlation between these three SNPs (rs75762330, P<0.025; rs88640083, P<0.005; rs20438858, P<0.001) and mastitis traits in dairy cows were consistent with stage I.ConclusionTwo-stage association analysis approved that three significant SNPs associated with mastitis traits in Chinese Holstein cows. Gene function analysis indicated that three genes (PTK2B, SYK and TNFRSF21) involved in inflammation and immune response of dairy cows. Suggesting that they as new candidate genes have an impact on mastitis susceptibility (PTK2B and SYK, OR>1) or resistance (TNFRSF21, OR<1) in Chinese Holstein cows.

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Single nucleotide polymorphisms in the CXCR1 gene and its association with clinical mastitis incidence in Polish Holstein-Friesian cows

Cited by 11 publications

References 19 publications

Associations Between Interleukin-8 Receptor (Cxcr1) and Interleukin-6 (Il6) Polymorphism and Immunity to Mastitis in the Black-and-White Variety of Polish Holstein-Friesian Cows

Associations Between Interleukin-8 Receptor (Cxcr1) and Interleukin-6 (Il6) Polymorphism and Immunity to Mastitis in the Black-and-White Variety of Polish Holstein-Friesian Cows

In silico prediction of the functional and structural consequences of the non-synonymous single nucleotide polymorphism A122V in bovine CXC chemokine receptor type 1

GWAS using 2b-RAD sequencing identified three mastitis important SNPs via two-stage association analysis in Chinese Holstein cows

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