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.

作者: M. Gu , G. Cosenza , M. Iannaccone , N.P.P. Macciotta , Y. Guo

DOI: 10.3168/JDS.2018-15059

关键词: AlleleBiologyPromoterMolecular biologyGenotypePolyunsaturated fatty acidGene expressionAllele frequencyGeneSingle-nucleotide polymorphism

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

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