揭示埃及水牛二酰甘油 O-酰基转移酶 1 和 telethonin 基因的多态性和蛋白质结构预测见解

Sahar M. Helalia, Aida I. El Makawy, Neama I. Ali, Nagwa H. A. Hassan, Mohamed S. Hassanane
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摘要

埃及水牛对埃及的农业部门和粮食供应有着重大影响。它被视为主要的乳用动物和重要的红肉来源。本研究旨在检测埃及水牛 DGAT1 和 TCAP 基因的多态性,并评估所发现的 nsSNPs 对所选基因三级结构多肽稳定性的潜在影响。通过限制性片段长度多态性(RFLP)鉴定等位基因,并对纯化的 PCR 产物进行测序,确认单核苷酸多态性(SNPs)。蛋白质翻译显示了同义和非同义 SNP,并利用生物信息学工具分析了所选基因的肽三维三级结构,以及氨基酸替换对蛋白质结构的影响。数据分析显示,在 DGAT1 基因的一个测试区域检测到了一个 nsSNP,它导致了一个多肽的氨基酸替换,而该多肽被预测为中性,位于蛋白质的卷曲部分。对 TCAP 基因的分析表明,有四个 nsSNPs 导致位于 α 螺旋区域的四个氨基酸替换。蛋白质预测分析表明,DGAT1 和 TCAP 中的氨基酸替换是非保守的,对变异的敏感性较低。非保守氨基酸置换产生的氨基酸具有不同于原始氨基酸的新特性,从而改变了蛋白质的结构和功能。我们可以推断,DGAT1 和 TCAP 基因的 SNPs 可能会影响肉类相关性状,并可能改善肉质。
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Unveiling polymorphism and protein structure prediction insights in diacylglycerol O-acyltransferase 1 and telethonin genes of Egyptian buffalo
The Egyptian buffalo has a sizable impact on Egypt's agricultural sector and food supply. It is regarded as the main dairy animal and an important source of red meat. This study aimed to detect the polymorphisms of the DGAT1 and TCAP genes and assess the potential impact of the discovered nsSNPs on the stability of the tertiary structure polypeptides of selected genes in Egyptian buffalo. Allele identification was made by the restriction fragment length polymorphism (RFLP), and the single nucleotide polymorphisms (SNPs) were recognized by sequencing the purified PCR products. Protein translation indicated the synonymous and non-synonymous SNPs, and the peptides' 3D tertiary structure of selected genes, as well as the effect of amino acid substitution on the protein structure, was performed using bioinformatics tools. Analysis of the data revealed that an nsSNP was detected in a tested region of the DGAT1 gene and caused an amino acid substitution in a polypeptide that was predicted to be neutral and located in the coiled part of the protein. The analysis of the TCAP gene showed four nsSNPs that caused four substitutions located in the α-helix region. Protein prediction analysis showed that the amino acid substitutions in DGAT1 and TCAP were non-conserved with low sensitivity to variation. The non-conservative amino acid substitutions result in amino acids with new properties different from the original amino acid that change the protein's structure and function. We can infer that the DGAT1 and TCAP genes' SNPs may affect meat-related traits and may improve meat quality.
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