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

Abstract

The human gene B4GALNT2 encodes an enzyme (β1,4-N-acetylgalactosaminyltransferase II) that controls the expression of the blood group Sd^a 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.