Remarkable genetic diversity detected at river buffalo <i>prolactin receptor</i> (<i><scp>PRLR</scp></i>) gene and association studies with milk fatty acid composition

Cosenza, G.; Iannaccone, Marco; Auzino, Barbara; Macciotta, Nicolò Pietro Paolo; Kovitvadhi, Attawit; Nicolae, Ioana; Pauciullo, Alfredo

doi:10.1111/age.12645

Cited by 18 publications

(20 citation statements)

References 41 publications

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“…Recently, other fundamental genes for milk traits have been positively associated with OBCFA in river buffalo. For instance, Cosenza et al (2017) found higher contents of these FA associated with the SNP g.129C>T (P < 0.0006) at the oxytocin receptor gene (OXTR), whereas the marker g.11188A>G at the prolactin receptor gene (PRLR) tended to have a significant effect (P < 0.06) on the same traits (Cosenza et al, 2018). This class of FA in milk fat are mostly derived from rumen bacteria, although linear odd-chain FA might be synthesized de novo in the mammary gland (Vlaeminck et al, 2006).…”

Section: Abmentioning

confidence: 99%

The single nucleotide polymorphism g.133A>C in the stearoyl CoA desaturase gene (SCD) promoter affects gene expression and quali-quantitative properties of river buffalo milk

Cosenza

Iannaccone

et al. 2019

Journal of Dairy Science

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The stearoyl-CoA desaturase (SCD) gene has been investigated in depth in ruminants because of its effect on milk fat composition. In river buffalo, the single nucleotide polymorphism (SNP) g.133A>C in the gene promoter has been associated with milk quality and yield. However, the biological reason for such effects remains unexplored. In this study, we combined mRNA profile analysis, an electromobility shift assay, and quantitative PCR to elucidate the role of this SNP on gene transcription and its effects on milk fat traits. A preliminary genotyping of g.133A>C was carried out on a group of 303 river buffaloes to choose individuals for the downstream applications. Analysis of allele frequencies showed an increase in the minor allele C (0.25) compared with previous findings (0.16). Six animals (2 for each genotype) were chosen for cloning and 216 positive cDNA recombinant clones for SCD (72 per genotype) were analyzed by PCR. All clones showed the same length on agarose gel; therefore, random clones were chosen for sequencing. No qualitative differences were found and all gene transcripts assembled correctly. An electrophoretic mobility shift assay was performed to evaluate the binding of the transcription factor Sp1 to DNA sequences including g.133A>C. Genotype CC showed a higher binding (mean ± standard error of the mean) than genotype AA in 2 different conditions [Enzo buffer (EB), Enzo Life Science Inc., Farmingdale, NY: 201.77 ± 4.06 vs. 141.65 ± 3.77 band intensity values and Poletto buffer (PB): 95.90 ± 1.15 vs. 67.30 ± 2.14 band intensity values]. The subsequent quantitative PCR confirmed the upregulation of the CC genotype compared with the AA and AC genotypes. The association study with milk fat traits revealed a favorable effect of allele C. The heterozygous genotype had the highest values for monounsaturated fatty acids, oleic acid (C18: 1 cis-9), polyunsaturated fatty acids, and odd-and branched-chain fatty acids, and the lowest values for saturated fatty acids and atherogenic and thrombogenic indices; the heterozygous genotype differed significantly from the AA genotype. The AC genotype has previously been associated with higher milk yield. Therefore, the g.133A>C SNP is a marker with dual effects and is an interesting candidate for assisted selection programs in river buffalo. These data clarified the biological role of the SNP g.133A>C in the SCD promoter and how it affects gene function, providing important knowledge on the genetic background of lipid metabolism, including the future possibility of selecting alleles with quantitatively or qualitatively favorable effects.

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Section: Abmentioning

confidence: 99%

The single nucleotide polymorphism g.133A>C in the stearoyl CoA desaturase gene (SCD) promoter affects gene expression and quali-quantitative properties of river buffalo milk

Cosenza

Iannaccone

et al. 2019

Journal of Dairy Science

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“…Marker-assisted selection is a useful approach to assist animal breeding. Recently, candidate genes harboring single nucleotide polymorphisms (SNP) significantly associated with milk fat content (Li et al, 2018c;Gu et al, 2019), protein percentage (Manzoor et al, 2018(Manzoor et al, , 2020, and fatty acid composition (Cosenza et al, 2017(Cosenza et al, , 2018 have been identified on different buffalo chromosomes. As for milk yield, one of the most important economic traits in buffalo industry, associated polymorphisms have been identified at the whole genome level (Wu et al, 2013;Venturini et al, 2014;de Camargo et al, 2015;Menon et al, 2016;El-Halawany et al, 2017;Iamartino et al, 2017;da Costa Barros et al, 2018;Du et al, 2019).…”

Section: Introductionmentioning

confidence: 99%

Identification of candidate genes associated with milk yield trait in buffaloes ( Bubalus bubalis ) by restriction-site-associated DNA sequencing

et al. 2020

Revista Brasileira De Zootecnia

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Breeding and genetics Full-length research article Identification of candidate genes associated with milk yield trait in buffaloes (Bubalus bubalis) by restriction-site-associated DNA sequencing ABSTRACT-The objectives of our present study included the screening of single nucleotide polymorphisms (SNP) that show significant differences in allelic frequencies between two buffalo populations (Egyptian and Chinese buffaloes), categorization of functional genes associated with these SNP by gene ontology, and pathway analyses to further understand their potential values as candidate genes closely associated with milk yield trait in buffaloes. In this study, double digest restrictionsite associated DNA sequencing was performed on Illumina HiSeq 2500 platform for 20 and 25 female buffaloes from Egypt and China, respectively. Approximately 118 Gb of sequencing data were obtained, and a total of 110,129 and 150,535 putative SNP were detected in Egyptian and Chinese buffaloes, respectively. Focused only on those SNP that differed significantly in allelic frequencies between the two populations, we found that genes associated with these SNP were significantly over-represented in the ionotropic glutamate receptor pathway, the endothelin signaling pathway, and the gonadotropin-releasing hormone receptor pathway, which contained a total of 29 genes. Of these, nine genes (ADCY5, CACNA1A, CREB1, INHBA, INHBB, PIK3R1, PLCB1, PRKCE, and SMAD2) participating in the hormonal regulation of lactation, were considered to be promising candidate genes worthy of further investigations for favorable alleles associated with milk yield. Our results provide useful information about genetic variations in Egyptian and Chinese buffaloes. The potential influences of nine candidate genes and their associated SNP on milk yield need to be validated in more buffalo populations.

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“…Although most previous studies concluded that c.836T>A could be a causative SNP for the observed milk production and composition traits, we could not exclude the effects of other linked SNPs in the GHR (such as c.380G>A) or other genes in regions close to c.836T>A locus. A good example of these close genes is PRLR, which locates approximately 7 Mb from the GHR and its SNPs associated with milk yield, and fat and protein content in cattle [8,37]. Both GH and PRL hormones play a crucial role in the initiation and maintenance of lactation in addition to the development of the mammary gland and the development of their genes from a common ancestral gene [33,38].…”

Section: Association Of Ghr Polymorphisms With Gene and Protein Exprementioning

confidence: 99%

Association of GHR Polymorphisms with Milk Production in Buffaloes

El-Komy

Saleh

Abdel-Hamid

et al. 2020

Animals

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For its role in the mediation of growth hormone (GH) galactopoietic effect, growth hormone receptor (GHR) was considered a functional candidate gene for milk performance in cattle. However, its genetic variation and potential effect have not been investigated in Egyptian buffaloes. This study aimed to screen GHR for polymorphisms and study their associations with milk traits in Egyptian buffaloes. Polymerase chain reaction, single-strand conformation polymorphism, and sequencing were used to identify mutations in 4 exons (E4–E6 and E8) of the GHR gene in 400 Egyptian buffaloes. No polymorphisms were found in E4, while 2 SNPs (c.380G>A/p.Arg127Lys and c.387C>T/p.Gly129) in E5, one silent mutation (c.435A>G/p.Pro145) in E6, and another missense mutation (c.836T>A/p.Phe279Tyr) in E8 were detected. The c.380G>A SNP in the extracellular domain was associated with milk yield, fat %, protein %, and 305-day milk, fat and protein yield, with higher levels in animals carrying the mutant A allele. The c.836T>A SNP in the transmembrane domain was associated with milk yield, fat %, protein %, and 305-day milk, fat and protein yield, with higher milk yield and lower fat %, protein %, fat and protein yield in the mutant A allele-animals. Interestingly, animals with the two mutant AA alleles produced higher milk yield, fat %, protein %, fat and protein yield, accompanied with upregulated expressions of GHR, GH, insulin-like growth factor 1 (IGF1), prolactin (PRL), prolactin receptor (PRLR), β-casein (encoded by CSN2 gene), and diacylglycerol acyltransferase-1 (DGAT1) genes and proteins in milk somatic cells. Therefore, selection of Egyptian buffaloes with mutant AA haplotypes for the novel c.380G>A SNP and the well-known c.836T>A SNP could improve milk yield and quality in buffaloes.

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Remarkable genetic diversity detected at river buffalo prolactin receptor (PRLR) gene and association studies with milk fatty acid composition

Cited by 18 publications

References 41 publications

The single nucleotide polymorphism g.133A>C in the stearoyl CoA desaturase gene (SCD) promoter affects gene expression and quali-quantitative properties of river buffalo milk

The single nucleotide polymorphism g.133A>C in the stearoyl CoA desaturase gene (SCD) promoter affects gene expression and quali-quantitative properties of river buffalo milk

Identification of candidate genes associated with milk yield trait in buffaloes ( Bubalus bubalis ) by restriction-site-associated DNA sequencing

Association of GHR Polymorphisms with Milk Production in Buffaloes

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