FUNCTIONAL EXPLORATION OF CHROMOSOMAL REARRANGEMENTS IN CELLULAR DISORDERS

Abstract

Chromosomal rearrangements such as translocations, inversions, and copy number variations are critical causes of genomic change and are important in the pathogenesis of cellular disorders. The purpose of this study is to functionally examine how chromosomal rearrangements in vivo can regulate the expression of genes and related biological processes in a bioinformatics-based manner. The dataset of gene expression was obtained in the Gene Expression Omnibus (GEO), which included disease samples with chromosomal instability but matched controls. The analysis of differential gene expression revealed 312 changed genes with 178 upregulated and 134 downregulated genes (|human|>The analysis of the upregulated and downregulated genes resulted in the identification of 312 significantly changed genes (|human|) including 178 upregulated genes and 134 downregulated genes (|human|) with the adjusted p value of 0. Functional enrichment analysis depicts that these genes mainly participate in DNA repair and cell cycle regulation, apoptosis, and chromatin remodeling pathways. The network analysis of protein-protein interactions found that TP53, BRCA1, RAD51 and ATM are central hub genes and play a significant role in genomic integrity maintenance. The receiver operating characteristic (ROC) analysis revealed excellent diagnostic performances of the genes that were selected, having area under the curve (AUC) values higher than 0.85. On the whole, this paper gives a functional overview of rearrangements of chromosomes and identifies key molecular targets that can become potential biomarkers of disease diagnosis and treatment.