The Relevance of Bioinformatic Tools in the Study of Polymorphisms of the B4GALNT2 Gene and its Association with Cancer

Eddaikra Atika, Haddouche Hayet, Touil-Boukoffa Chafia
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Abstract

The human gene B4GALNT2 encodes an enzyme (β1,4-N-acetylgalactosaminyltransferase II) that controls the expression of the blood group Sda carbohydrate’s antigen. This gene is located in position 17q21,32 and consists of 11 exons. The characterization and understanding of genetic variation is a real challenge in human genetics, both for healthy individuals and diseased ones. The in silico study of the B4GALNT2 gene’s polymorphism using a bioinformatic methodology by means of analyzing various databases and open source web browsers has shown that this gene is characterized by a polymorphic profile that has a very large number of Cosmic SNPs associated with different types of cancer. The prediction of the 3D structure in silico is an important step to better understand the overall architecture of the B4GALNT2 protein. The chosen model this study is one of chondroitin synthase with a recovery percentage of 20.10% relative to the target sequence. Our findings suggest that these cosmic polymorphisms are at the origin of a cellular disorder responsible for the initiation, birth and proliferation of tumors. Bioinformatics has become an indispensable tool in identifying and predicting the function of the B4GALNT2 gene and its relation to cancer.
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生物信息学工具在研究B4GALNT2基因多态性及其与癌症的相关性
人类基因B4GALNT2编码一种酶(β1,4- n -乙酰半乳糖氨基转移酶II),该酶控制血型Sda碳水化合物抗原的表达。该基因位于17q21,32位,由11个外显子组成。遗传变异的表征和理解是人类遗传学的一个真正的挑战,无论是对健康个体还是患病个体。利用生物信息学方法对B4GALNT2基因多态性进行的计算机研究,通过分析各种数据库和开源web浏览器,表明该基因具有多态性特征,该多态性具有大量与不同类型癌症相关的Cosmic snp。在计算机上预测三维结构是更好地了解B4GALNT2蛋白整体结构的重要一步。本研究选择的模型为软骨素合成酶模型,相对于目标序列的回收率为20.10%。我们的研究结果表明,这些宇宙多态性是负责肿瘤发生、产生和增殖的细胞紊乱的起源。生物信息学已成为鉴定和预测B4GALNT2基因功能及其与癌症关系的重要工具。
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