Molecular Characterization of CSN1S2 in Egyptian River Buffalo | ||
| Egyptian Journal of Veterinary Sciences | ||
| Articles in Press, Corrected Proof, Available Online from 22 September 2025 PDF (1.03 M) | ||
| Document Type: Original Article | ||
| DOI: 10.21608/ejvs.2025.407115.2991 | ||
| Authors | ||
| Alhassan Tarek Shahwan1; Nadia A. Aboul-Maaty2; Amal A. M. Hassan* 2; Eman M. Saleh3; Hanaa A. S. Oraby2; Usama A. Ibrahim3 | ||
| 1research assistant, national research center | ||
| 2Cell Biology Department, Biotechnology Research Institute, National Research Centre (NRC), Cairo, Egypt | ||
| 3Biochemistry Department, Faculty of Science, Ain Shams University, Cairo, Egypt | ||
| Abstract | ||
| In the process of elucidating the molecular characteristics of the CSN1S2 gene in Egyptian buffalo, various haplotypes for the complete coding sequence (CDS) of CSN1S2 in both river and swamp buffaloes were retrieved from GenBank. Two non-synonymous single-nucleotide polymorphisms (SNPs): c.484T>A (g.12803T>A) in exon 14 and c.568G>A (g.14067G>A) in exon 16, were the most frequent among the investigated haplotypes and were found exclusively in river buffalo. Therefore, DNA samples collected from thirty-eight Egyptian river buffalo were genotyped for these SNPs. An additional SNP in the splice donor site of CSN1S2 intron 7 (g.7197 G>C), known to cause exon 7 skipping, was also genotyped. The prevalent genotypes at g.7197 and g.12803 were GG and AA, respectively, with frequencies of 0.84. The genotypes CC and TT were not detected at these two sites (g.7197 and g.12803), respectively. The genotype frequencies at g.14067 were 0.21 for GG, 0.11 for GA, and 0.68 for AA. Results analysis revealed that Egyptian buffalo possesses a high frequency of the genotype GG at g.7197 in CSN1S2, suggesting a reduced likelihood of exon 7 skipping, while the prevalent AA genotype at g.14067 is more likely to be linked to increased palmitic acid in the milk, suggesting a possible health risk. To mitigate this, breeding programs utilizing marker-assisted selection should focus on enhancing the frequency of the CSN1S2 GG genotype at g.14067. Additionally, this study examined the genetic relationships among the CSN1S2 coding sequence haplotypes in buffalo and constructed a phylogenetic tree that differentiates between buffalo and cattle samples. | ||
| Keywords | ||
| αS2-casein; buffalo; DNA sequencing; genotyping; polymorphism | ||
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