Kentucky Community & Technical College System

The Use of Bioinformatics to Explore the Evolution of Polycystin1 and Polycystin 2

Abstract

Polycystic kidney disease (PKD) is an autosomal dominant genetic disease which can result from a mutation in the PKD 1 gene on chromosome 16 or the PKD 2 gene on chromosome 4. The PKD 1 gene codes for a 4302-amino acid residue transmembrane protein Polycystin 1 which may be involved in cell-cell and cell-matrix interactions. The PKD 2 gene codes for a transmembrane protein Polycystin 2 which may serve as a calcium channel in conjunction with Polycystin 1. Mutations in the PKD 1 or PKD 2 gene cause cysts to form in the nephron and eventually lead to kidney failure. Bioinformatics analysis of PKD 1/Polycystin 1 and PKD 2/Polycystin 2 to decipher the mmolecular evolution of the proteins was conducted using the PsiBLAST program of the National Center for Biotechnology Information (NCBI). The goal is to collect ancestral sequences and use the bioinformatics MEGA6 (Molecular Evolutionary Genetic Analysis) software to construct a phylogenetic tree to determine universal ancestors for the PKD 1 and PKD 2 genes. The molecular evolution pattern will be used to analyze conserved domains across life forms that will enable the suggestion of therapeutic strategies involving molecular medical approaches to combat PKD.

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The Use of Bioinformatics to Explore the Evolution of Polycystin1 and Polycystin 2

Polycystic kidney disease (PKD) is an autosomal dominant genetic disease which can result from a mutation in the PKD 1 gene on chromosome 16 or the PKD 2 gene on chromosome 4. The PKD 1 gene codes for a 4302-amino acid residue transmembrane protein Polycystin 1 which may be involved in cell-cell and cell-matrix interactions. The PKD 2 gene codes for a transmembrane protein Polycystin 2 which may serve as a calcium channel in conjunction with Polycystin 1. Mutations in the PKD 1 or PKD 2 gene cause cysts to form in the nephron and eventually lead to kidney failure. Bioinformatics analysis of PKD 1/Polycystin 1 and PKD 2/Polycystin 2 to decipher the mmolecular evolution of the proteins was conducted using the PsiBLAST program of the National Center for Biotechnology Information (NCBI). The goal is to collect ancestral sequences and use the bioinformatics MEGA6 (Molecular Evolutionary Genetic Analysis) software to construct a phylogenetic tree to determine universal ancestors for the PKD 1 and PKD 2 genes. The molecular evolution pattern will be used to analyze conserved domains across life forms that will enable the suggestion of therapeutic strategies involving molecular medical approaches to combat PKD.